Incidental Mutation 'R0409:Spata31g1'
ID |
36507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
038611-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R0409 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 42972203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 512
(K512T)
|
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: K512T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: K512T
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: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
G |
T |
10: 87,061,816 (GRCm39) |
A89S |
probably damaging |
Het |
Alkbh3 |
T |
A |
2: 93,831,793 (GRCm39) |
I146F |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,375,783 (GRCm39) |
I871F |
possibly damaging |
Het |
Birc2 |
A |
C |
9: 7,819,385 (GRCm39) |
V509G |
possibly damaging |
Het |
Car7 |
G |
A |
8: 105,275,056 (GRCm39) |
A165T |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,535,423 (GRCm39) |
V271A |
probably benign |
Het |
Cdc40 |
G |
T |
10: 40,723,164 (GRCm39) |
H302N |
probably damaging |
Het |
Cep104 |
C |
T |
4: 154,067,510 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
C |
A |
10: 92,612,075 (GRCm39) |
S3161I |
probably benign |
Het |
Chil5 |
A |
G |
3: 105,942,282 (GRCm39) |
|
probably benign |
Het |
Chil6 |
C |
T |
3: 106,311,492 (GRCm39) |
G96D |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,475,483 (GRCm39) |
K531E |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Disp3 |
T |
G |
4: 148,356,416 (GRCm39) |
E148A |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,922,893 (GRCm39) |
Y52C |
probably damaging |
Het |
Exph5 |
C |
A |
9: 53,285,643 (GRCm39) |
T908K |
probably benign |
Het |
Fat4 |
C |
T |
3: 39,031,562 (GRCm39) |
S2449F |
probably damaging |
Het |
Faxc |
T |
A |
4: 21,948,751 (GRCm39) |
N154K |
probably benign |
Het |
Fbxo43 |
C |
T |
15: 36,162,503 (GRCm39) |
A235T |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,371,180 (GRCm39) |
|
probably null |
Het |
Fsd1l |
T |
C |
4: 53,679,932 (GRCm39) |
L210P |
probably benign |
Het |
Gm6420 |
A |
C |
1: 23,295,119 (GRCm39) |
S123R |
unknown |
Het |
Gm8801 |
T |
G |
17: 36,258,268 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
T |
C |
14: 47,053,679 (GRCm39) |
I36V |
probably benign |
Het |
Gsap |
G |
A |
5: 21,427,443 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,829,339 (GRCm39) |
I969L |
possibly damaging |
Het |
Il21r |
G |
T |
7: 125,229,012 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,867,063 (GRCm39) |
F893L |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,472,739 (GRCm39) |
I1715V |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,287,628 (GRCm39) |
I1339T |
possibly damaging |
Het |
Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
Noc3l |
A |
G |
19: 38,806,371 (GRCm39) |
|
probably benign |
Het |
Nup93 |
A |
G |
8: 95,030,293 (GRCm39) |
D384G |
probably damaging |
Het |
Or5m9b |
T |
A |
2: 85,905,646 (GRCm39) |
C187* |
probably null |
Het |
Or5p54 |
T |
C |
7: 107,554,433 (GRCm39) |
I195T |
probably benign |
Het |
Or8b40 |
C |
T |
9: 38,027,547 (GRCm39) |
L152F |
probably benign |
Het |
Pls1 |
A |
T |
9: 95,668,972 (GRCm39) |
|
probably benign |
Het |
Prkcb |
A |
T |
7: 122,024,200 (GRCm39) |
H75L |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,113,449 (GRCm39) |
Y539* |
probably null |
Het |
Rnf10 |
A |
T |
5: 115,393,506 (GRCm39) |
|
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,843,582 (GRCm39) |
Y234C |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,741,717 (GRCm39) |
|
probably benign |
Het |
Sec23b |
T |
A |
2: 144,409,832 (GRCm39) |
M240K |
probably benign |
Het |
Sema5a |
A |
T |
15: 32,681,755 (GRCm39) |
N945Y |
probably damaging |
Het |
Snapc4 |
C |
A |
2: 26,257,228 (GRCm39) |
R799L |
probably benign |
Het |
Tctn3 |
T |
C |
19: 40,599,860 (GRCm39) |
|
probably benign |
Het |
Tex56 |
A |
T |
13: 35,108,532 (GRCm39) |
I5L |
probably benign |
Het |
Tfpt |
G |
A |
7: 3,623,898 (GRCm39) |
Q50* |
probably null |
Het |
Trim80 |
T |
C |
11: 115,332,039 (GRCm39) |
V77A |
probably damaging |
Het |
Trp73 |
T |
A |
4: 154,148,841 (GRCm39) |
D256V |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,519,345 (GRCm39) |
N2202K |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,858,926 (GRCm39) |
F2792Y |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCAACTCACAGTACCCGTGAC -3'
(R):5'- TCAGATCCCAGTGGGACACACATAG -3'
Sequencing Primer
(F):5'- CCCTGGATATGAAGCTCAGTG -3'
(R):5'- ACACACATAGGTGTGGCTTC -3'
|
Posted On |
2013-05-09 |