Incidental Mutation 'IGL02802:Donson'
| ID |
392117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Donson
|
| Ensembl Gene |
ENSMUSG00000022960 |
| Gene Name |
downstream neighbor of SON |
| Synonyms |
1110025J21Rik, ORF60, Donson |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02802 (G1)
|
| Quality Score |
95 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91478196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 435
(D435G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000138560]
[ENSMUST00000133942]
[ENSMUST00000136699]
[ENSMUST00000144461]
[ENSMUST00000139324]
[ENSMUST00000145833]
[ENSMUST00000140312]
[ENSMUST00000159295]
|
| AlphaFold |
Q9QXP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023682
AA Change: D465G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: D465G
| 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 |
probably benign
Transcript: ENSMUST00000114037
|
| SMART Domains |
Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961
| 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 |
probably benign
Transcript: ENSMUST00000117633
|
| SMART Domains |
Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961
| 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 |
probably benign
Transcript: ENSMUST00000122302
|
| SMART Domains |
Protein: ENSMUSP00000113615
Gene: ENSMUSG00000022961
| 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 |
noncoding transcript
Transcript: ENSMUST00000123893
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138560
AA Change: D435G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: D435G
| 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 |
possibly damaging
Transcript: ENSMUST00000133942
AA Change: D253G
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
AA Change: D253G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136699
|
| 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: 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: ENSMUST00000145833
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000231425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159295
|
| SMART Domains |
Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSCP
|
1 |
89 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231459
AA Change: D1G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232108
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is early embryonic lethal. Heterozygous knockout causes no observable phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
C |
1: 130,671,130 (GRCm39) |
T451P |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,310 (GRCm39) |
E215G |
probably damaging |
Het |
| Adh6b |
A |
G |
3: 138,058,545 (GRCm39) |
T198A |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,531,804 (GRCm39) |
K349E |
probably damaging |
Het |
| Bsnd |
T |
A |
4: 106,349,231 (GRCm39) |
D3V |
probably damaging |
Het |
| Cd83 |
T |
A |
13: 43,953,147 (GRCm39) |
L142Q |
probably null |
Het |
| Cdh20 |
A |
G |
1: 110,065,655 (GRCm39) |
E643G |
probably damaging |
Het |
| Ces1b |
T |
G |
8: 93,783,594 (GRCm39) |
E542A |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,738,762 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,769,186 (GRCm39) |
D471G |
probably damaging |
Het |
| Cntn5 |
C |
A |
9: 10,048,683 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,147,179 (GRCm39) |
D475V |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,679 (GRCm39) |
F906S |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,928,663 (GRCm39) |
S888T |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,223,103 (GRCm39) |
R105Q |
probably benign |
Het |
| Ctnnd1 |
C |
A |
2: 84,454,806 (GRCm39) |
M1I |
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,352,481 (GRCm39) |
Q354* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,304,930 (GRCm39) |
D324G |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,887,218 (GRCm39) |
K474E |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 104,004,638 (GRCm39) |
L130P |
probably damaging |
Het |
| Fam221a |
C |
T |
6: 49,355,411 (GRCm39) |
T171I |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,456,332 (GRCm39) |
E5G |
probably damaging |
Het |
| Fblim1 |
A |
G |
4: 141,317,431 (GRCm39) |
S85P |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,162,761 (GRCm39) |
C251* |
probably null |
Het |
| Glis2 |
T |
C |
16: 4,429,735 (GRCm39) |
|
probably null |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,031,999 (GRCm39) |
P127S |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,651,762 (GRCm39) |
L246P |
probably damaging |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,457 (GRCm39) |
P100S |
probably benign |
Het |
| Jup |
T |
C |
11: 100,269,204 (GRCm39) |
D403G |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,388,963 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcna3 |
G |
A |
3: 106,944,369 (GRCm39) |
E211K |
probably damaging |
Het |
| Klc3 |
A |
T |
7: 19,129,049 (GRCm39) |
I440N |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,709 (GRCm39) |
T280A |
probably benign |
Het |
| Nat3 |
A |
T |
8: 68,000,160 (GRCm39) |
Q13L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,372,963 (GRCm39) |
N272S |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
T |
C |
8: 26,130,922 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntaq1 |
A |
G |
15: 58,011,833 (GRCm39) |
S65G |
probably benign |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,131 (GRCm39) |
R43C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,310 (GRCm39) |
Q7074L |
unknown |
Het |
| Or4p20 |
A |
G |
2: 88,253,832 (GRCm39) |
V179A |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,733 (GRCm39) |
S222P |
probably damaging |
Het |
| Or5p78 |
A |
T |
7: 108,211,669 (GRCm39) |
I52F |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,136 (GRCm39) |
|
probably null |
Het |
| Or8b37 |
T |
G |
9: 37,959,345 (GRCm39) |
Y276D |
probably damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,290 (GRCm39) |
N162K |
probably benign |
Het |
| P4htm |
C |
T |
9: 108,460,055 (GRCm39) |
D240N |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,835 (GRCm39) |
|
probably benign |
Het |
| Plppr5 |
T |
C |
3: 117,456,228 (GRCm39) |
S250P |
probably damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,919 (GRCm39) |
K12E |
probably benign |
Het |
| Ppox |
A |
T |
1: 171,105,066 (GRCm39) |
L374* |
probably null |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,883,004 (GRCm39) |
|
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,285,449 (GRCm39) |
N436K |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,389 (GRCm39) |
I326T |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,622,654 (GRCm39) |
M18L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,604,924 (GRCm39) |
V18337I |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,601 (GRCm39) |
S34P |
possibly damaging |
Het |
| Vps72 |
T |
A |
3: 95,026,545 (GRCm39) |
C163* |
probably null |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
|
| Other mutations in Donson |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Donson
|
APN |
16 |
91,479,479 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02458:Donson
|
APN |
16 |
91,478,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03238:Donson
|
APN |
16 |
91,478,134 (GRCm39) |
nonsense |
probably null |
|
|
R0525:Donson
|
UTSW |
16 |
91,483,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Donson
|
UTSW |
16 |
91,480,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Donson
|
UTSW |
16 |
91,483,049 (GRCm39) |
unclassified |
probably benign |
|
|
R4191:Donson
|
UTSW |
16 |
91,485,480 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4746:Donson
|
UTSW |
16 |
91,479,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Donson
|
UTSW |
16 |
91,484,721 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4947:Donson
|
UTSW |
16 |
91,479,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:Donson
|
UTSW |
16 |
91,478,181 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5439:Donson
|
UTSW |
16 |
91,476,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Donson
|
UTSW |
16 |
91,478,117 (GRCm39) |
splice site |
probably null |
|
|
R5809:Donson
|
UTSW |
16 |
91,484,738 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6964:Donson
|
UTSW |
16 |
91,478,107 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7022:Donson
|
UTSW |
16 |
91,478,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Donson
|
UTSW |
16 |
91,479,009 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Donson
|
UTSW |
16 |
91,485,599 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7826:Donson
|
UTSW |
16 |
91,485,344 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8354:Donson
|
UTSW |
16 |
91,480,685 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Donson
|
UTSW |
16 |
91,485,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACAAGTGACATTTACCCC -3'
(R):5'- TAGACAAGCAGCTTGACCAAGTC -3'
Sequencing Primer
(F):5'- TTTACCCCAGCAAGAGGATATAG -3'
(R):5'- CAAGTCGCATTCCCAGGAGTTTTG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation