Incidental Mutation 'R0031:Spata31g1'
| ID |
18645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31g1
|
| Ensembl Gene |
ENSMUSG00000028451 |
| Gene Name |
SPATA31 subfamily G member 1 |
| Synonyms |
1700022I11Rik |
| MMRRC Submission |
038325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0031 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42973712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 1015
(K1015M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030163]
[ENSMUST00000139127]
[ENSMUST00000185904]
[ENSMUST00000190902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030163
AA Change: K1015M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: K1015M
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 73.5%
- 10x: 52.2%
- 20x: 32.1%
|
| Validation Efficiency |
93% (95/102) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
G |
A |
2: 69,115,652 (GRCm39) |
R571C |
probably damaging |
Het |
| Agr3 |
T |
C |
12: 35,997,590 (GRCm39) |
M100T |
probably benign |
Het |
| Ankrd7 |
T |
A |
6: 18,870,007 (GRCm39) |
Y253* |
probably null |
Het |
| Atp2c2 |
A |
T |
8: 120,475,801 (GRCm39) |
T565S |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,151 (GRCm39) |
S597Y |
possibly damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,379 (GRCm39) |
N811S |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,583,657 (GRCm39) |
D907E |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,736 (GRCm39) |
S812F |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cmss1 |
T |
G |
16: 57,131,612 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,204,945 (GRCm39) |
T579A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csrp2 |
C |
T |
10: 110,774,601 (GRCm39) |
S172L |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,717,770 (GRCm39) |
S235P |
probably damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,388,462 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,125 (GRCm39) |
I173T |
probably benign |
Het |
| Gucy2c |
T |
A |
6: 136,674,997 (GRCm39) |
I1005F |
probably damaging |
Het |
| Irak3 |
T |
A |
10: 120,012,225 (GRCm39) |
K88* |
probably null |
Het |
| Klc1 |
T |
C |
12: 111,743,467 (GRCm39) |
Y265H |
probably damaging |
Het |
| Lamb1 |
G |
A |
12: 31,351,155 (GRCm39) |
V754I |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,020,431 (GRCm39) |
Q58H |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,882,741 (GRCm39) |
D2902G |
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,383,244 (GRCm39) |
I207N |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,643,901 (GRCm39) |
|
probably null |
Het |
| Nup160 |
A |
G |
2: 90,547,931 (GRCm39) |
|
probably null |
Het |
| Ormdl1 |
A |
G |
1: 53,338,318 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
G |
3: 122,596,704 (GRCm39) |
M432V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,255,088 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,545,942 (GRCm39) |
V581A |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,942,243 (GRCm39) |
N281K |
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,721,760 (GRCm39) |
I422T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,103 (GRCm39) |
N1199S |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,726 (GRCm39) |
L406P |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 80,033,525 (GRCm39) |
P84L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,066,941 (GRCm39) |
I2361V |
probably benign |
Het |
| Slc25a12 |
C |
T |
2: 71,163,958 (GRCm39) |
V106M |
possibly damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,340,274 (GRCm39) |
Y232C |
probably damaging |
Het |
| Taf1c |
A |
T |
8: 120,325,829 (GRCm39) |
C678S |
probably benign |
Het |
| Tcp11l2 |
G |
T |
10: 84,427,004 (GRCm39) |
C156F |
probably damaging |
Het |
| Tmem62 |
A |
G |
2: 120,829,594 (GRCm39) |
T316A |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,102,048 (GRCm39) |
I10T |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,262,899 (GRCm39) |
I824T |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,037,161 (GRCm39) |
V2042E |
probably damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,779 (GRCm39) |
E36V |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
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 |
|
IGL03174:Spata31g1
|
APN |
4 |
42,970,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03188:Spata31g1
|
APN |
4 |
42,971,225 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
2013-03-25 |
Incidental Mutation