Incidental Mutation 'R7891:Spata31d1a'
| ID |
609351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1a
|
| Ensembl Gene |
ENSMUSG00000050876 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
| Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59848139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1330
(C1330R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066510
AA Change: C1330R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: C1330R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
|
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
|
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224469
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224982
AA Change: C1330R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 164,920,864 (GRCm39) |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 48,910,543 (GRCm39) |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,054,098 (GRCm39) |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 (GRCm39) |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,681,305 (GRCm39) |
A612V |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,599,961 (GRCm39) |
D115E |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,197,513 (GRCm39) |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,600 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,824,139 (GRCm39) |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,717,442 (GRCm39) |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,146 (GRCm39) |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,084,557 (GRCm39) |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,939 (GRCm39) |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,931,263 (GRCm39) |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,609,590 (GRCm39) |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,123,387 (GRCm39) |
N130S |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,306,964 (GRCm39) |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 (GRCm39) |
E136K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,478 (GRCm39) |
S1100G |
probably benign |
Het |
| Gask1b |
G |
A |
3: 79,793,591 (GRCm39) |
A20T |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,132,972 (GRCm39) |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,434 (GRCm39) |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,696 (GRCm39) |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,472,918 (GRCm39) |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,468,940 (GRCm39) |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,235,832 (GRCm39) |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,840,517 (GRCm39) |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,505,109 (GRCm39) |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,220,742 (GRCm39) |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,428,967 (GRCm39) |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,299,192 (GRCm39) |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,299,591 (GRCm39) |
L1309P |
probably benign |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,421 (GRCm39) |
T99S |
possibly damaging |
Het |
| Or13c25 |
C |
T |
4: 52,911,663 (GRCm39) |
V44I |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,289 (GRCm39) |
V121I |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,049,141 (GRCm39) |
M284T |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,848,244 (GRCm39) |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,577,714 (GRCm39) |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,144,297 (GRCm39) |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,552,232 (GRCm39) |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,714,748 (GRCm39) |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,069,434 (GRCm39) |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,334,443 (GRCm39) |
I955M |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,677,935 (GRCm39) |
T97I |
probably benign |
Het |
| Rasef |
T |
C |
4: 73,709,201 (GRCm39) |
T11A |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,588,995 (GRCm39) |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,851,328 (GRCm39) |
A721T |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,349,915 (GRCm39) |
D560G |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,660 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,083 (GRCm39) |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,754,074 (GRCm39) |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,616,510 (GRCm39) |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,280,059 (GRCm39) |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,422 (GRCm39) |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,491,036 (GRCm39) |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,668,003 (GRCm39) |
S63R |
probably benign |
Het |
|
| Other mutations in Spata31d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Spata31d1a
|
UTSW |
13 |
59,848,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
|
R6985:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8379:Spata31d1a
|
UTSW |
13 |
59,850,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAATCCTCTGCCACCCATG -3'
(R):5'- AAGCTCAGAACTGTGTGAGG -3'
Sequencing Primer
(F):5'- CCACCCATGGGCTTACAC -3'
(R):5'- CTCAGAACTGTGTGAGGGAGCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation