Incidental Mutation 'R9258:Son'
| ID |
702064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Son
|
| Ensembl Gene |
ENSMUSG00000022961 |
| Gene Name |
Son DNA binding protein |
| Synonyms |
2900011L12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R9258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91444712-91476080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91474570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 2418
(H2418L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000133942]
[ENSMUST00000136699]
[ENSMUST00000138560]
[ENSMUST00000139324]
[ENSMUST00000140312]
[ENSMUST00000144461]
[ENSMUST00000145833]
|
| AlphaFold |
Q9QX47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023682
|
| SMART Domains |
Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114031
|
| SMART Domains |
Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114037
AA Change: H2418L
|
| SMART Domains |
Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961
AA Change: H2418L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
350 |
1.71e-7 |
PROSPERO |
|
internal_repeat_2
|
214 |
362 |
7.05e-6 |
PROSPERO |
|
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
507 |
750 |
1.71e-7 |
PROSPERO |
|
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1208 |
1347 |
7.05e-6 |
PROSPERO |
|
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
|
low complexity region
|
1838 |
2067 |
N/A |
INTRINSIC |
|
low complexity region
|
2080 |
2091 |
N/A |
INTRINSIC |
|
low complexity region
|
2094 |
2105 |
N/A |
INTRINSIC |
|
low complexity region
|
2149 |
2155 |
N/A |
INTRINSIC |
|
G_patch
|
2321 |
2367 |
1.15e-17 |
SMART |
|
Pfam:DND1_DSRM
|
2388 |
2442 |
5.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117159
|
| SMART Domains |
Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000117633
AA Change: H2418L
|
| SMART Domains |
Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961
AA Change: H2418L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
350 |
1.59e-7 |
PROSPERO |
|
internal_repeat_2
|
214 |
362 |
6.63e-6 |
PROSPERO |
|
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
507 |
750 |
1.59e-7 |
PROSPERO |
|
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1208 |
1347 |
6.63e-6 |
PROSPERO |
|
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
|
Pfam:RSRP
|
1909 |
2216 |
1e-12 |
PFAM |
|
G_patch
|
2321 |
2367 |
1.15e-17 |
SMART |
|
DSRM
|
2390 |
2458 |
5.37e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122302
AA Change: H428L
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113615
Gene: ENSMUSG00000022961
AA Change: H428L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
165 |
N/A |
INTRINSIC |
|
G_patch
|
331 |
377 |
1.15e-17 |
SMART |
|
Pfam:DND1_DSRM
|
398 |
452 |
7.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133942
|
| SMART Domains |
Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138560
|
| SMART Domains |
Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139324
|
| SMART Domains |
Protein: ENSMUSP00000120957
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140312
|
| SMART Domains |
Protein: ENSMUSP00000122320
Gene: ENSMUSG00000022961
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
350 |
2.93e-7 |
PROSPERO |
|
internal_repeat_2
|
214 |
362 |
1.1e-5 |
PROSPERO |
|
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
507 |
750 |
2.93e-7 |
PROSPERO |
|
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1208 |
1347 |
1.1e-5 |
PROSPERO |
|
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
|
low complexity region
|
1838 |
2067 |
N/A |
INTRINSIC |
|
low complexity region
|
2080 |
2091 |
N/A |
INTRINSIC |
|
low complexity region
|
2094 |
2105 |
N/A |
INTRINSIC |
|
low complexity region
|
2149 |
2155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144461
|
| SMART Domains |
Protein: ENSMUSP00000123648
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147891
|
| SMART Domains |
Protein: ENSMUSP00000122544
Gene: ENSMUSG00000022961
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSRP
|
61 |
358 |
2.9e-13 |
PFAM |
|
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231459
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
A |
8: 124,709,347 (GRCm39) |
Q69L |
probably benign |
Het |
| Abtb2 |
A |
C |
2: 103,546,410 (GRCm39) |
Q930P |
probably null |
Het |
| Adam18 |
G |
A |
8: 25,158,574 (GRCm39) |
T73I |
probably benign |
Het |
| Ankrd54 |
A |
T |
15: 78,946,996 (GRCm39) |
M1K |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,277,400 (GRCm39) |
V1106A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,351,515 (GRCm39) |
I701F |
probably damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,465,387 (GRCm39) |
R2152H |
probably damaging |
Het |
| Arnt2 |
C |
T |
7: 84,010,798 (GRCm39) |
G37E |
probably damaging |
Het |
| Arpp21 |
G |
A |
9: 111,953,956 (GRCm39) |
T581M |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,216,957 (GRCm39) |
N428S |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,098,026 (GRCm39) |
E1471G |
|
Het |
| Cadm1 |
A |
G |
9: 47,710,730 (GRCm39) |
K211R |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,064,462 (GRCm39) |
S143P |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,421,356 (GRCm39) |
Q1125* |
probably null |
Het |
| Cfap54 |
A |
C |
10: 92,770,960 (GRCm39) |
S2095A |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,613,645 (GRCm39) |
T67A |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,700,703 (GRCm39) |
N3216S |
unknown |
Het |
| Cpeb2 |
T |
A |
5: 43,391,455 (GRCm39) |
L217Q |
|
Het |
| Ctbp2 |
A |
T |
7: 132,597,021 (GRCm39) |
N119K |
probably damaging |
Het |
| Des |
G |
T |
1: 75,340,289 (GRCm39) |
V399L |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,368,079 (GRCm39) |
H1753Q |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,475,813 (GRCm39) |
V562A |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,791,155 (GRCm39) |
D99G |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,127,561 (GRCm39) |
I165V |
probably benign |
Het |
| Eme2 |
C |
T |
17: 25,112,053 (GRCm39) |
V241M |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,810,376 (GRCm39) |
L860P |
possibly damaging |
Het |
| Eogt |
T |
A |
6: 97,089,043 (GRCm39) |
K521M |
possibly damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,506,701 (GRCm39) |
T489A |
probably benign |
Het |
| Fmo5 |
G |
T |
3: 97,558,802 (GRCm39) |
V421L |
probably benign |
Het |
| Gabpa |
C |
T |
16: 84,653,403 (GRCm39) |
P268S |
probably benign |
Het |
| Gas2l3 |
G |
T |
10: 89,262,315 (GRCm39) |
H136N |
probably benign |
Het |
| Gm5592 |
C |
T |
7: 40,938,407 (GRCm39) |
A563V |
possibly damaging |
Het |
| Gpn3 |
A |
T |
5: 122,519,508 (GRCm39) |
D205V |
probably benign |
Het |
| H13 |
T |
C |
2: 152,522,999 (GRCm39) |
L104S |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,599,105 (GRCm39) |
V125E |
probably benign |
Het |
| Ifih1 |
A |
G |
2: 62,442,242 (GRCm39) |
F374S |
probably damaging |
Het |
| Ildr2 |
A |
G |
1: 166,131,158 (GRCm39) |
D338G |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,281,893 (GRCm39) |
N1162K |
probably null |
Het |
| Lmntd1 |
T |
C |
6: 145,359,256 (GRCm39) |
D298G |
probably damaging |
Het |
| Lrrc32 |
T |
A |
7: 98,148,345 (GRCm39) |
V375E |
probably benign |
Het |
| Lrrc37a |
A |
C |
11: 103,393,022 (GRCm39) |
I801R |
probably benign |
Het |
| Matcap1 |
A |
G |
8: 106,008,775 (GRCm39) |
V414A |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,657,121 (GRCm39) |
E935G |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,588,238 (GRCm39) |
T917S |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,467,545 (GRCm39) |
E1204D |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,550,243 (GRCm39) |
E1829V |
probably damaging |
Het |
| Nccrp1 |
C |
T |
7: 28,245,632 (GRCm39) |
G150D |
probably damaging |
Het |
| Nlrp4b |
G |
T |
7: 10,444,087 (GRCm39) |
W12L |
probably damaging |
Het |
| Nmb |
T |
C |
7: 80,554,001 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ogfod2 |
T |
A |
5: 124,250,505 (GRCm39) |
H35Q |
probably benign |
Het |
| Ola1 |
A |
T |
2: 72,929,732 (GRCm39) |
S290R |
probably damaging |
Het |
| Or1e30 |
T |
G |
11: 73,678,281 (GRCm39) |
N172K |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,452,329 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or51v15-ps1 |
T |
G |
7: 103,278,543 (GRCm39) |
Y208S |
unknown |
Het |
| Or52e2 |
C |
A |
7: 102,804,409 (GRCm39) |
E182* |
probably null |
Het |
| Or5p68 |
T |
G |
7: 107,945,886 (GRCm39) |
T101P |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,099 (GRCm39) |
L285* |
probably null |
Het |
| Pcsk9 |
T |
C |
4: 106,316,047 (GRCm39) |
D132G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,444,174 (GRCm39) |
V2296E |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,365,297 (GRCm39) |
I151L |
probably damaging |
Het |
| Prl3d3 |
A |
T |
13: 27,344,931 (GRCm39) |
D101V |
possibly damaging |
Het |
| Prrt1 |
A |
G |
17: 34,850,120 (GRCm39) |
Y178C |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,793,155 (GRCm39) |
I87F |
possibly damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,614 (GRCm39) |
Y814* |
probably null |
Het |
| Rpl3l |
T |
G |
17: 24,951,447 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
C |
A |
2: 143,853,161 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,364 (GRCm39) |
S4158P |
probably damaging |
Het |
| Scube2 |
G |
T |
7: 109,398,515 (GRCm39) |
S951Y |
probably damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,041,002 (GRCm39) |
V396A |
probably benign |
Het |
| Sh3gl1 |
T |
A |
17: 56,325,911 (GRCm39) |
K173* |
probably null |
Het |
| Shank3 |
A |
T |
15: 89,388,521 (GRCm39) |
E371V |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,066,751 (GRCm39) |
T302A |
probably damaging |
Het |
| Slc25a41 |
A |
T |
17: 57,348,580 (GRCm39) |
H4Q |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,723,071 (GRCm39) |
V271D |
possibly damaging |
Het |
| Smad6 |
A |
T |
9: 63,927,573 (GRCm39) |
L245Q |
probably damaging |
Het |
| Smad7 |
C |
A |
18: 75,527,317 (GRCm39) |
Q388K |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,532,799 (GRCm39) |
D348Y |
possibly damaging |
Het |
| Sppl3 |
G |
A |
5: 115,233,922 (GRCm39) |
V331M |
probably damaging |
Het |
| St13 |
T |
G |
15: 81,272,569 (GRCm39) |
T92P |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,963,643 (GRCm39) |
W222R |
probably damaging |
Het |
| Stk32a |
T |
A |
18: 43,444,999 (GRCm39) |
N264K |
probably benign |
Het |
| Stoml3 |
T |
A |
3: 53,405,397 (GRCm39) |
I26N |
possibly damaging |
Het |
| Taf7 |
T |
C |
18: 37,776,021 (GRCm39) |
E182G |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,590,129 (GRCm39) |
V39A |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,889,823 (GRCm39) |
S418G |
possibly damaging |
Het |
| Tbr1 |
T |
A |
2: 61,642,723 (GRCm39) |
C663S |
probably benign |
Het |
| Tmc5 |
A |
T |
7: 118,222,501 (GRCm39) |
Y67F |
probably benign |
Het |
| Tnfsf4 |
A |
C |
1: 161,244,814 (GRCm39) |
I168L |
probably benign |
Het |
| Trav5-1 |
T |
G |
14: 52,860,347 (GRCm39) |
S51A |
probably benign |
Het |
| Trmt10c |
A |
T |
16: 55,854,646 (GRCm39) |
C330S |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,884,713 (GRCm39) |
M798T |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
CATGCC |
CATGCCTCCGATGCC |
11: 115,959,007 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,566,822 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,999 (GRCm39) |
C100S |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,452,302 (GRCm39) |
I494K |
possibly damaging |
Het |
| Wdr17 |
G |
A |
8: 55,112,654 (GRCm39) |
Q816* |
probably null |
Het |
|
| Other mutations in Son |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Son
|
APN |
16 |
91,461,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01024:Son
|
APN |
16 |
91,452,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Son
|
APN |
16 |
91,457,024 (GRCm39) |
intron |
probably benign |
|
|
IGL01083:Son
|
APN |
16 |
91,454,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Son
|
APN |
16 |
91,456,346 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01467:Son
|
APN |
16 |
91,454,165 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01506:Son
|
APN |
16 |
91,454,174 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01933:Son
|
APN |
16 |
91,454,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02156:Son
|
APN |
16 |
91,452,992 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02473:Son
|
APN |
16 |
91,455,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02498:Son
|
APN |
16 |
91,453,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02517:Son
|
APN |
16 |
91,452,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02530:Son
|
APN |
16 |
91,455,359 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02865:Son
|
APN |
16 |
91,448,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Son
|
APN |
16 |
91,453,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Son
|
UTSW |
16 |
91,448,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0036:Son
|
UTSW |
16 |
91,457,054 (GRCm39) |
intron |
probably benign |
|
|
R0037:Son
|
UTSW |
16 |
91,461,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Son
|
UTSW |
16 |
91,456,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Son
|
UTSW |
16 |
91,455,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0048:Son
|
UTSW |
16 |
91,455,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0056:Son
|
UTSW |
16 |
91,475,043 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0227:Son
|
UTSW |
16 |
91,453,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0256:Son
|
UTSW |
16 |
91,453,472 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0302:Son
|
UTSW |
16 |
91,453,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Son
|
UTSW |
16 |
91,452,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1225:Son
|
UTSW |
16 |
91,454,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1255:Son
|
UTSW |
16 |
91,461,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Son
|
UTSW |
16 |
91,453,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Son
|
UTSW |
16 |
91,452,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1535:Son
|
UTSW |
16 |
91,456,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1587:Son
|
UTSW |
16 |
91,456,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Son
|
UTSW |
16 |
91,454,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Son
|
UTSW |
16 |
91,454,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Son
|
UTSW |
16 |
91,457,114 (GRCm39) |
intron |
probably benign |
|
|
R2138:Son
|
UTSW |
16 |
91,456,260 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2245:Son
|
UTSW |
16 |
91,444,848 (GRCm39) |
splice site |
probably null |
|
|
R2351:Son
|
UTSW |
16 |
91,454,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2434:Son
|
UTSW |
16 |
91,451,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Son
|
UTSW |
16 |
91,461,205 (GRCm39) |
splice site |
probably null |
|
|
R2871:Son
|
UTSW |
16 |
91,461,205 (GRCm39) |
splice site |
probably null |
|
|
R2872:Son
|
UTSW |
16 |
91,461,205 (GRCm39) |
splice site |
probably null |
|
|
R2889:Son
|
UTSW |
16 |
91,456,787 (GRCm39) |
unclassified |
probably benign |
|
|
R3712:Son
|
UTSW |
16 |
91,453,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3913:Son
|
UTSW |
16 |
91,456,999 (GRCm39) |
intron |
probably benign |
|
|
R4172:Son
|
UTSW |
16 |
91,456,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Son
|
UTSW |
16 |
91,455,299 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4302:Son
|
UTSW |
16 |
91,455,299 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4770:Son
|
UTSW |
16 |
91,455,756 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4881:Son
|
UTSW |
16 |
91,472,397 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5020:Son
|
UTSW |
16 |
91,453,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Son
|
UTSW |
16 |
91,454,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Son
|
UTSW |
16 |
91,452,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Son
|
UTSW |
16 |
91,451,910 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5215:Son
|
UTSW |
16 |
91,453,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5243:Son
|
UTSW |
16 |
91,451,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Son
|
UTSW |
16 |
91,452,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5529:Son
|
UTSW |
16 |
91,452,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Son
|
UTSW |
16 |
91,468,301 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5763:Son
|
UTSW |
16 |
91,454,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Son
|
UTSW |
16 |
91,461,875 (GRCm39) |
intron |
probably benign |
|
|
R5788:Son
|
UTSW |
16 |
91,456,940 (GRCm39) |
intron |
probably benign |
|
|
R5992:Son
|
UTSW |
16 |
91,455,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6314:Son
|
UTSW |
16 |
91,457,298 (GRCm39) |
intron |
probably benign |
|
|
R6371:Son
|
UTSW |
16 |
91,471,629 (GRCm39) |
|
|
|
|
R6429:Son
|
UTSW |
16 |
91,455,054 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6451:Son
|
UTSW |
16 |
91,454,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6489:Son
|
UTSW |
16 |
91,452,044 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6513:Son
|
UTSW |
16 |
91,456,835 (GRCm39) |
intron |
probably benign |
|
|
R6753:Son
|
UTSW |
16 |
91,454,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6916:Son
|
UTSW |
16 |
91,451,673 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7070:Son
|
UTSW |
16 |
91,453,729 (GRCm39) |
unclassified |
probably benign |
|
|
R7079:Son
|
UTSW |
16 |
91,453,729 (GRCm39) |
unclassified |
probably benign |
|
|
R7110:Son
|
UTSW |
16 |
91,453,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7120:Son
|
UTSW |
16 |
91,467,414 (GRCm39) |
missense |
unknown |
|
|
R7120:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R7167:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7205:Son
|
UTSW |
16 |
91,457,183 (GRCm39) |
small deletion |
probably benign |
|
|
R7208:Son
|
UTSW |
16 |
91,458,990 (GRCm39) |
missense |
unknown |
|
|
R7219:Son
|
UTSW |
16 |
91,461,889 (GRCm39) |
missense |
unknown |
|
|
R7249:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7328:Son
|
UTSW |
16 |
91,455,278 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7330:Son
|
UTSW |
16 |
91,453,486 (GRCm39) |
unclassified |
probably benign |
|
|
R7374:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7405:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R7420:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7424:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7464:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R7514:Son
|
UTSW |
16 |
91,451,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7555:Son
|
UTSW |
16 |
91,455,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7645:Son
|
UTSW |
16 |
91,457,183 (GRCm39) |
small deletion |
probably benign |
|
|
R7716:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R7718:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7778:Son
|
UTSW |
16 |
91,453,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7824:Son
|
UTSW |
16 |
91,453,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7856:Son
|
UTSW |
16 |
91,456,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7870:Son
|
UTSW |
16 |
91,453,486 (GRCm39) |
unclassified |
probably benign |
|
|
R7928:Son
|
UTSW |
16 |
91,453,729 (GRCm39) |
unclassified |
probably benign |
|
|
R7972:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R7978:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8000:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8192:Son
|
UTSW |
16 |
91,452,437 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8221:Son
|
UTSW |
16 |
91,453,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8227:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R8233:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8255:Son
|
UTSW |
16 |
91,461,824 (GRCm39) |
missense |
unknown |
|
|
R8292:Son
|
UTSW |
16 |
91,453,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8407:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8468:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R8495:Son
|
UTSW |
16 |
91,457,183 (GRCm39) |
small deletion |
probably benign |
|
|
R8772:Son
|
UTSW |
16 |
91,454,826 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8796:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8862:Son
|
UTSW |
16 |
91,453,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Son
|
UTSW |
16 |
91,455,057 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8972:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R8991:Son
|
UTSW |
16 |
91,453,608 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8991:Son
|
UTSW |
16 |
91,453,366 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9086:Son
|
UTSW |
16 |
91,467,418 (GRCm39) |
missense |
unknown |
|
|
R9138:Son
|
UTSW |
16 |
91,452,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9232:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R9241:Son
|
UTSW |
16 |
91,454,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9328:Son
|
UTSW |
16 |
91,452,645 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9420:Son
|
UTSW |
16 |
91,454,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9468:Son
|
UTSW |
16 |
91,454,439 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9500:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R9516:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R9595:Son
|
UTSW |
16 |
91,454,241 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9679:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R9719:Son
|
UTSW |
16 |
91,456,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9749:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
R9772:Son
|
UTSW |
16 |
91,457,222 (GRCm39) |
small deletion |
probably benign |
|
|
R9782:Son
|
UTSW |
16 |
91,444,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9788:Son
|
UTSW |
16 |
91,453,699 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Son
|
UTSW |
16 |
91,456,257 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
RF041:Son
|
UTSW |
16 |
91,453,579 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Son
|
UTSW |
16 |
91,452,689 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATCAGGTGAGCACTGCCC -3'
(R):5'- GAAAATACATTTTGCCCATACCCTC -3'
Sequencing Primer
(F):5'- TGAGCACTGCCCTGTGAC -3'
(R):5'- GCCCATACCCTCCCTTTAATTTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation