Incidental Mutation 'IGL03174:Spata31g1'
| ID |
411949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31g1
|
| Ensembl Gene |
ENSMUSG00000028451 |
| Gene Name |
SPATA31 subfamily G member 1 |
| Synonyms |
1700022I11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42970975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 67
(Y67H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030163]
[ENSMUST00000139127]
[ENSMUST00000185904]
[ENSMUST00000190902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030163
AA Change: Y103H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: Y103H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
322 |
432 |
6.53e-5 |
PROSPERO |
|
low complexity region
|
434 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
610 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
622 |
738 |
6.53e-5 |
PROSPERO |
|
low complexity region
|
847 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139127
|
| SMART Domains |
Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185904
AA Change: Y43H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
AA Change: Y43H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
99 |
149 |
2e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190902
AA Change: Y67H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
AA Change: Y67H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,877,752 (GRCm39) |
L703P |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,435,110 (GRCm39) |
K602R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,733,744 (GRCm39) |
D622G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,054,969 (GRCm39) |
L287Q |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,962 (GRCm39) |
E774G |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,487,983 (GRCm39) |
S558P |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,282,666 (GRCm39) |
I781T |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,607 (GRCm39) |
R448* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,266,053 (GRCm39) |
I511F |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,542 (GRCm39) |
E23G |
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,360,100 (GRCm39) |
|
probably null |
Het |
| Grin3a |
T |
A |
4: 49,771,107 (GRCm39) |
D555V |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,251,215 (GRCm39) |
Y107C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,515 (GRCm39) |
D73G |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,767,773 (GRCm39) |
D52G |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,597,036 (GRCm39) |
R189L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,296,609 (GRCm39) |
D3315V |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,247 (GRCm39) |
S24P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,909,383 (GRCm39) |
L1616P |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,622,789 (GRCm39) |
|
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,477 (GRCm39) |
M197K |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,457,433 (GRCm39) |
M43T |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,954,331 (GRCm39) |
R1595H |
possibly damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,000 (GRCm39) |
S247N |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,999,077 (GRCm39) |
D235G |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,020,463 (GRCm39) |
I215N |
probably damaging |
Het |
| Sfrp4 |
A |
T |
13: 19,816,377 (GRCm39) |
Q137L |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,544 (GRCm39) |
W679* |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,285,213 (GRCm39) |
L398H |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,642,870 (GRCm39) |
T99S |
probably benign |
Het |
|
| Other mutations in Spata31g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Spata31g1
|
APN |
4 |
42,973,982 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01340:Spata31g1
|
APN |
4 |
42,971,984 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02078:Spata31g1
|
APN |
4 |
42,972,685 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02082:Spata31g1
|
APN |
4 |
42,970,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02993:Spata31g1
|
APN |
4 |
42,971,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Spata31g1
|
APN |
4 |
42,971,225 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0031:Spata31g1
|
UTSW |
4 |
42,973,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0179:Spata31g1
|
UTSW |
4 |
42,972,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0409:Spata31g1
|
UTSW |
4 |
42,972,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0422:Spata31g1
|
UTSW |
4 |
42,972,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0462:Spata31g1
|
UTSW |
4 |
42,973,429 (GRCm39) |
missense |
probably benign |
|
|
R0467:Spata31g1
|
UTSW |
4 |
42,972,715 (GRCm39) |
missense |
probably benign |
|
|
R0677:Spata31g1
|
UTSW |
4 |
42,970,952 (GRCm39) |
nonsense |
probably null |
|
|
R0723:Spata31g1
|
UTSW |
4 |
42,971,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1479:Spata31g1
|
UTSW |
4 |
42,972,543 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1586:Spata31g1
|
UTSW |
4 |
42,971,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1956:Spata31g1
|
UTSW |
4 |
42,970,105 (GRCm39) |
splice site |
probably null |
|
|
R2030:Spata31g1
|
UTSW |
4 |
42,974,131 (GRCm39) |
nonsense |
probably null |
|
|
R2074:Spata31g1
|
UTSW |
4 |
42,974,171 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2162:Spata31g1
|
UTSW |
4 |
42,972,238 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2419:Spata31g1
|
UTSW |
4 |
42,974,146 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2939:Spata31g1
|
UTSW |
4 |
42,972,946 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3615:Spata31g1
|
UTSW |
4 |
42,971,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3616:Spata31g1
|
UTSW |
4 |
42,971,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3981:Spata31g1
|
UTSW |
4 |
42,971,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5037:Spata31g1
|
UTSW |
4 |
42,972,195 (GRCm39) |
missense |
probably benign |
|
|
R5252:Spata31g1
|
UTSW |
4 |
42,971,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5526:Spata31g1
|
UTSW |
4 |
42,972,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5642:Spata31g1
|
UTSW |
4 |
42,971,831 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5935:Spata31g1
|
UTSW |
4 |
42,971,465 (GRCm39) |
missense |
probably benign |
|
|
R6082:Spata31g1
|
UTSW |
4 |
42,972,511 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6136:Spata31g1
|
UTSW |
4 |
42,972,853 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6361:Spata31g1
|
UTSW |
4 |
42,972,695 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6494:Spata31g1
|
UTSW |
4 |
42,971,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6641:Spata31g1
|
UTSW |
4 |
42,971,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7289:Spata31g1
|
UTSW |
4 |
42,973,252 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7289:Spata31g1
|
UTSW |
4 |
42,972,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7777:Spata31g1
|
UTSW |
4 |
42,971,095 (GRCm39) |
missense |
probably benign |
|
|
R7777:Spata31g1
|
UTSW |
4 |
42,970,171 (GRCm39) |
nonsense |
probably null |
|
|
R7893:Spata31g1
|
UTSW |
4 |
42,971,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8066:Spata31g1
|
UTSW |
4 |
42,971,929 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8311:Spata31g1
|
UTSW |
4 |
42,973,169 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8706:Spata31g1
|
UTSW |
4 |
42,971,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8743:Spata31g1
|
UTSW |
4 |
42,971,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Spata31g1
|
UTSW |
4 |
42,971,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Spata31g1
|
UTSW |
4 |
42,971,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Spata31g1
|
UTSW |
4 |
42,971,261 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8916:Spata31g1
|
UTSW |
4 |
42,973,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Spata31g1
|
UTSW |
4 |
42,972,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Spata31g1
|
UTSW |
4 |
42,972,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Spata31g1
|
UTSW |
4 |
42,972,097 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9193:Spata31g1
|
UTSW |
4 |
42,971,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9569:Spata31g1
|
UTSW |
4 |
42,971,740 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2016-08-02 |
Incidental Mutation