Incidental Mutation 'R8837:Spata31d1a'
| ID |
674238 |
| 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 |
068665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59850596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 511
(S511T)
|
| 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: S511T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S511T
| 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: S511T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
G |
5: 8,986,873 (GRCm39) |
F764C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,078 (GRCm39) |
D739G |
possibly damaging |
Het |
| Atosb |
A |
G |
4: 43,034,531 (GRCm39) |
S355P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,677,980 (GRCm39) |
Y1012C |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,929,133 (GRCm39) |
T206A |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,456,199 (GRCm39) |
A650S |
possibly damaging |
Het |
| Catsper1 |
A |
C |
19: 5,386,070 (GRCm39) |
N101T |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,160,755 (GRCm39) |
S2070R |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,737,518 (GRCm39) |
V2775A |
probably benign |
Het |
| Clybl |
G |
A |
14: 122,419,194 (GRCm39) |
|
probably null |
Het |
| Cog4 |
T |
A |
8: 111,579,004 (GRCm39) |
N148K |
probably benign |
Het |
| Dbnl |
G |
A |
11: 5,741,839 (GRCm39) |
G44D |
possibly damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,667,630 (GRCm39) |
N276K |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,746,060 (GRCm39) |
T4018S |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,774,539 (GRCm39) |
L72P |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,928,374 (GRCm39) |
D84G |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,271,105 (GRCm39) |
T51A |
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,430,409 (GRCm39) |
I279N |
probably damaging |
Het |
| Fas |
A |
T |
19: 34,296,049 (GRCm39) |
Q164L |
probably benign |
Het |
| Focad |
A |
G |
4: 88,072,905 (GRCm39) |
K107E |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,479,305 (GRCm39) |
S338L |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,940 (GRCm39) |
R91G |
probably damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,942 (GRCm39) |
D94G |
possibly damaging |
Het |
| Kank3 |
G |
C |
17: 34,036,627 (GRCm39) |
R165P |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,762,048 (GRCm39) |
L434Q |
unknown |
Het |
| Krt18 |
A |
G |
15: 101,938,265 (GRCm39) |
T163A |
possibly damaging |
Het |
| Lcn10 |
T |
A |
2: 25,575,298 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,394,795 (GRCm39) |
P210Q |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,548 (GRCm39) |
S2183T |
probably benign |
Het |
| Mga |
G |
A |
2: 119,769,272 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
G |
A |
15: 77,661,137 (GRCm39) |
A818V |
possibly damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,703 (GRCm39) |
I31T |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,807 (GRCm39) |
Y249* |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,597 (GRCm39) |
I91F |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,314,469 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,936,117 (GRCm39) |
Y772N |
possibly damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prl3d2 |
A |
T |
13: 27,307,926 (GRCm39) |
D69V |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,172,596 (GRCm39) |
F871L |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,045,432 (GRCm39) |
P152S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,204,167 (GRCm39) |
E270G |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,691,656 (GRCm39) |
T209A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,621,410 (GRCm39) |
L669P |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,506,106 (GRCm39) |
C933* |
probably null |
Het |
| Serpina3k |
G |
T |
12: 104,309,292 (GRCm39) |
M245I |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,305,823 (GRCm39) |
I280N |
probably damaging |
Het |
| Soat1 |
A |
G |
1: 156,261,772 (GRCm39) |
V412A |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,253,384 (GRCm39) |
V1455E |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 39,048,364 (GRCm39) |
M403I |
|
Het |
| Tln2 |
A |
T |
9: 67,157,866 (GRCm39) |
C1158S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,778,811 (GRCm39) |
T98A |
possibly damaging |
Het |
| Ttc23 |
T |
C |
7: 67,319,494 (GRCm39) |
L118P |
probably damaging |
Het |
| Tyr |
T |
A |
7: 87,087,223 (GRCm39) |
I430L |
probably damaging |
Het |
| Uck2 |
A |
G |
1: 167,070,715 (GRCm39) |
F5L |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,485,847 (GRCm39) |
V2986I |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,888 (GRCm39) |
D266G |
probably benign |
Het |
| Yrdc |
A |
G |
4: 124,747,677 (GRCm39) |
D213G |
probably benign |
Het |
| Zfp612 |
C |
A |
8: 110,815,603 (GRCm39) |
T270K |
probably damaging |
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 |
|
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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 |
|
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'- GCATGGACCTTGGATGAATTTC -3'
(R):5'- TTCAACAAAGTGGCTCAGGC -3'
Sequencing Primer
(F):5'- ACCTTGGATGAATTTCTGGTTGAG -3'
(R):5'- CCTCCACAGGCAGTCATTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation