Incidental Mutation 'R4993:Sun1'
| ID |
384998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun1
|
| Ensembl Gene |
ENSMUSG00000036817 |
| Gene Name |
Sad1 and UNC84 domain containing 1 |
| Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
| MMRRC Submission |
042587-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4993 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 139211088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 20
(S20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000143562]
[ENSMUST00000146715]
[ENSMUST00000129079]
[ENSMUST00000135720]
[ENSMUST00000148772]
[ENSMUST00000127045]
|
| AlphaFold |
Q9D666 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
AA Change: S114A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
334 |
450 |
2e-3 |
SMART |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
coiled coil region
|
492 |
527 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
572 |
689 |
3e-3 |
SMART |
|
Pfam:Sad1_UNC
|
777 |
911 |
2.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078690
AA Change: S114A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
270 |
386 |
2e-3 |
SMART |
|
low complexity region
|
402 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
463 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
508 |
625 |
2e-3 |
SMART |
|
Pfam:Sad1_UNC
|
713 |
847 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100517
AA Change: S114A
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098086
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110882
AA Change: S114A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
371 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
416 |
533 |
4e-3 |
SMART |
|
Pfam:Sad1_UNC
|
621 |
755 |
7.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110883
AA Change: S114A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
233 |
327 |
4e-3 |
SMART |
|
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
coiled coil region
|
369 |
404 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
449 |
566 |
3e-3 |
SMART |
|
Pfam:Sad1_UNC
|
654 |
788 |
1.7e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110884
AA Change: S114A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
Pfam:MRP
|
274 |
381 |
1.8e-8 |
PFAM |
|
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
|
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
535 |
652 |
4e-3 |
SMART |
|
Pfam:Sad1_UNC
|
740 |
874 |
2e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126110
AA Change: S9A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143562
AA Change: S114A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116364
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:MRP
|
62 |
158 |
7e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146715
AA Change: S114A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117679
Gene: ENSMUSG00000036817
AA Change: S114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:MRP
|
62 |
160 |
4.8e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129079
AA Change: S123A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119582
Gene: ENSMUSG00000036817
AA Change: S123A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
Pfam:MRP
|
71 |
131 |
8.6e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142473
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135720
AA Change: S20A
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122785
Gene: ENSMUSG00000036817
AA Change: S20A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
98 |
120 |
5.2e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148772
AA Change: S155A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114869
Gene: ENSMUSG00000036817
AA Change: S155A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
Pfam:MRP
|
103 |
176 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135926
|
| SMART Domains |
Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
11 |
33 |
5.2e0 |
SMART |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
227 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127045
|
| SMART Domains |
Protein: ENSMUSP00000123211
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| 9130008F23Rik |
G |
T |
17: 41,191,052 (GRCm39) |
Q126K |
probably benign |
Het |
| Abca15 |
C |
A |
7: 120,000,941 (GRCm39) |
N1492K |
probably damaging |
Het |
| Afap1l2 |
C |
T |
19: 56,906,472 (GRCm39) |
D402N |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,750,408 (GRCm39) |
F660L |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,554,102 (GRCm39) |
T89A |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,467,251 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cdk19 |
A |
G |
10: 40,352,214 (GRCm39) |
D288G |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,502,530 (GRCm39) |
D202V |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,625,259 (GRCm39) |
Y584* |
probably null |
Het |
| Dpf3 |
A |
T |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Emid1 |
G |
T |
11: 5,081,512 (GRCm39) |
Q212K |
probably benign |
Het |
| Esm1 |
C |
T |
13: 113,349,933 (GRCm39) |
Q118* |
probably null |
Het |
| Fahd2a |
T |
G |
2: 127,278,284 (GRCm39) |
I308L |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,085,126 (GRCm39) |
*851Q |
probably null |
Het |
| Fastkd1 |
C |
A |
2: 69,533,084 (GRCm39) |
V428F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,918 (GRCm39) |
I2265N |
probably damaging |
Het |
| Gale |
C |
A |
4: 135,694,171 (GRCm39) |
H191Q |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,426,403 (GRCm39) |
V153E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,861,951 (GRCm39) |
N289S |
possibly damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,537 (GRCm39) |
Y153F |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,814 (GRCm39) |
T139A |
probably benign |
Het |
| Irf2bp2 |
A |
G |
8: 127,319,410 (GRCm39) |
S256P |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,640 (GRCm39) |
P148Q |
probably damaging |
Het |
| Loxl1 |
T |
G |
9: 58,219,820 (GRCm39) |
H117P |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,348,445 (GRCm39) |
K225E |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,344 (GRCm39) |
V1678D |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,054,730 (GRCm39) |
F398Y |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,742,889 (GRCm39) |
*186Q |
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,586,182 (GRCm39) |
L105P |
probably damaging |
Het |
| Mlxip |
T |
G |
5: 123,533,357 (GRCm39) |
I122S |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,355 (GRCm39) |
Y107F |
probably damaging |
Het |
| Mtg1 |
G |
T |
7: 139,720,196 (GRCm39) |
D88Y |
probably null |
Het |
| Mutyh |
T |
A |
4: 116,675,132 (GRCm39) |
S426R |
probably benign |
Het |
| Myo16 |
C |
T |
8: 10,526,094 (GRCm39) |
T878I |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,768,755 (GRCm39) |
Y912* |
probably null |
Het |
| Ncor1 |
A |
C |
11: 62,234,167 (GRCm39) |
I669R |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,202,935 (GRCm39) |
I210V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,357,194 (GRCm39) |
C657R |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,442 (GRCm39) |
T260I |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,334,042 (GRCm39) |
M102K |
probably benign |
Het |
| Obscn |
G |
A |
11: 59,015,587 (GRCm39) |
R1054C |
possibly damaging |
Het |
| Or10ag58 |
T |
A |
2: 87,265,496 (GRCm39) |
F222I |
probably benign |
Het |
| Or1j20 |
C |
A |
2: 36,760,000 (GRCm39) |
Q141K |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,390 (GRCm39) |
M283V |
possibly damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,524 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
| Or5p75-ps1 |
G |
A |
7: 108,107,450 (GRCm39) |
M62I |
probably damaging |
Het |
| Otol1 |
C |
A |
3: 69,926,211 (GRCm39) |
Q129K |
probably benign |
Het |
| Otx1 |
A |
T |
11: 21,948,532 (GRCm39) |
|
probably null |
Het |
| Pcdhac2 |
C |
A |
18: 37,279,304 (GRCm39) |
N761K |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,127,609 (GRCm39) |
M452K |
probably damaging |
Het |
| Phkg2 |
T |
C |
7: 127,173,113 (GRCm39) |
Y24H |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prg4 |
C |
T |
1: 150,336,432 (GRCm39) |
C97Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,093,352 (GRCm39) |
V64A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,289,231 (GRCm39) |
K324E |
probably damaging |
Het |
| Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
| Riiad1 |
T |
C |
3: 94,380,170 (GRCm39) |
T42A |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,317,841 (GRCm39) |
V640A |
possibly damaging |
Het |
| Rnpep |
G |
T |
1: 135,190,770 (GRCm39) |
S592Y |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,207,458 (GRCm39) |
L431P |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,915,281 (GRCm39) |
I1437F |
possibly damaging |
Het |
| Skic3 |
T |
A |
13: 76,331,055 (GRCm39) |
M1495K |
probably damaging |
Het |
| Skint1 |
T |
C |
4: 111,885,530 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
A |
G |
4: 53,543,644 (GRCm39) |
E396G |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,639,867 (GRCm39) |
F521S |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,129 (GRCm39) |
S394R |
probably damaging |
Het |
| Socs1 |
A |
G |
16: 10,602,549 (GRCm39) |
S63P |
probably benign |
Het |
| Spopfm2 |
C |
T |
3: 94,083,623 (GRCm39) |
G63R |
probably damaging |
Het |
| Tac4 |
A |
T |
11: 95,156,068 (GRCm39) |
K50* |
probably null |
Het |
| Tasor |
T |
A |
14: 27,151,071 (GRCm39) |
W16R |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,574 (GRCm39) |
I151T |
probably damaging |
Het |
| Tcf4 |
T |
C |
18: 69,814,840 (GRCm39) |
V587A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,253 (GRCm39) |
K24801* |
probably null |
Het |
| Tuba3b |
G |
T |
6: 145,566,999 (GRCm39) |
M413I |
possibly damaging |
Het |
| Ufl1 |
C |
T |
4: 25,267,832 (GRCm39) |
A280T |
possibly damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,532 (GRCm39) |
I212L |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,459 (GRCm39) |
T685A |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,773,878 (GRCm39) |
V183D |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,642,917 (GRCm39) |
N4093S |
probably benign |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,653 (GRCm39) |
S121N |
probably damaging |
Het |
| Vmn1r47 |
A |
G |
6: 89,999,740 (GRCm39) |
S291G |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,701,449 (GRCm39) |
V17A |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,176 (GRCm39) |
H573L |
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,847,858 (GRCm39) |
V342I |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,051,204 (GRCm39) |
M2226V |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,963 (GRCm39) |
H230Y |
probably damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,465 (GRCm39) |
K599N |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,720 (GRCm39) |
T401K |
probably benign |
Het |
|
| Other mutations in Sun1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Sun1
|
APN |
5 |
139,220,440 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01364:Sun1
|
APN |
5 |
139,220,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Sun1
|
APN |
5 |
139,216,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02251:Sun1
|
APN |
5 |
139,227,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Sun1
|
APN |
5 |
139,221,243 (GRCm39) |
splice site |
probably benign |
|
|
IGL03253:Sun1
|
APN |
5 |
139,209,341 (GRCm39) |
splice site |
probably benign |
|
|
IGL03370:Sun1
|
APN |
5 |
139,216,886 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4418001:Sun1
|
UTSW |
5 |
139,212,343 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0124:Sun1
|
UTSW |
5 |
139,232,434 (GRCm39) |
unclassified |
probably benign |
|
|
R0145:Sun1
|
UTSW |
5 |
139,227,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0376:Sun1
|
UTSW |
5 |
139,212,454 (GRCm39) |
unclassified |
probably benign |
|
|
R0512:Sun1
|
UTSW |
5 |
139,220,602 (GRCm39) |
splice site |
probably benign |
|
|
R0729:Sun1
|
UTSW |
5 |
139,223,619 (GRCm39) |
unclassified |
probably benign |
|
|
R0733:Sun1
|
UTSW |
5 |
139,216,918 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1188:Sun1
|
UTSW |
5 |
139,224,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1724:Sun1
|
UTSW |
5 |
139,221,480 (GRCm39) |
missense |
probably benign |
|
|
R1733:Sun1
|
UTSW |
5 |
139,216,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1913:Sun1
|
UTSW |
5 |
139,221,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2033:Sun1
|
UTSW |
5 |
139,211,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2200:Sun1
|
UTSW |
5 |
139,216,974 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3084:Sun1
|
UTSW |
5 |
139,221,356 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3085:Sun1
|
UTSW |
5 |
139,221,356 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3771:Sun1
|
UTSW |
5 |
139,224,575 (GRCm39) |
unclassified |
probably benign |
|
|
R3772:Sun1
|
UTSW |
5 |
139,224,575 (GRCm39) |
unclassified |
probably benign |
|
|
R3804:Sun1
|
UTSW |
5 |
139,211,117 (GRCm39) |
nonsense |
probably null |
|
|
R4300:Sun1
|
UTSW |
5 |
139,213,349 (GRCm39) |
unclassified |
probably benign |
|
|
R4428:Sun1
|
UTSW |
5 |
139,220,230 (GRCm39) |
intron |
probably benign |
|
|
R5075:Sun1
|
UTSW |
5 |
139,212,646 (GRCm39) |
splice site |
probably null |
|
|
R5363:Sun1
|
UTSW |
5 |
139,220,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Sun1
|
UTSW |
5 |
139,231,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Sun1
|
UTSW |
5 |
139,201,014 (GRCm39) |
splice site |
probably null |
|
|
R7218:Sun1
|
UTSW |
5 |
139,212,442 (GRCm39) |
missense |
unknown |
|
|
R7320:Sun1
|
UTSW |
5 |
139,234,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Sun1
|
UTSW |
5 |
139,232,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Sun1
|
UTSW |
5 |
139,221,475 (GRCm39) |
missense |
probably benign |
|
|
R8398:Sun1
|
UTSW |
5 |
139,222,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Sun1
|
UTSW |
5 |
139,222,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8772:Sun1
|
UTSW |
5 |
139,209,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8804:Sun1
|
UTSW |
5 |
139,216,920 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8924:Sun1
|
UTSW |
5 |
139,209,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Sun1
|
UTSW |
5 |
139,231,121 (GRCm39) |
nonsense |
probably null |
|
|
R9169:Sun1
|
UTSW |
5 |
139,219,273 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9262:Sun1
|
UTSW |
5 |
139,200,918 (GRCm39) |
missense |
unknown |
|
|
R9558:Sun1
|
UTSW |
5 |
139,211,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACGTTGTGTATGTTCCCTGG -3'
(R):5'- GATGAAGGCAGCATCCACATC -3'
Sequencing Primer
(F):5'- TGTTCCCTGGCACAAATTTTATG -3'
(R):5'- TGGAGACCCTGACCTCACTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation