Incidental Mutation 'R7064:Spata31d1b'
| ID |
548468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
045160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R7064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59863955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 368
(S368P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165133
AA Change: S368P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S368P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
65 |
149 |
3.9e-10 |
PFAM |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
360 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
402 |
774 |
1.1e-116 |
PFAM |
|
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1152 |
1162 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,984,746 (GRCm39) |
I263T |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,278 (GRCm39) |
P830S |
possibly damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,456 (GRCm39) |
F218S |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,746,919 (GRCm39) |
|
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,986 (GRCm39) |
V244E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,419,181 (GRCm39) |
E757G |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,685,865 (GRCm39) |
D147G |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,810,134 (GRCm39) |
M92L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,983 (GRCm39) |
D2458G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,250,772 (GRCm39) |
I259V |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,077,218 (GRCm39) |
V250A |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,678 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
A |
T |
7: 26,011,732 (GRCm39) |
M318L |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,412,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Decr1 |
C |
A |
4: 15,945,392 (GRCm39) |
|
|
Het |
| Dmbx1 |
T |
C |
4: 115,775,465 (GRCm39) |
N272D |
probably damaging |
Het |
| Dsel |
C |
A |
1: 111,790,577 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,804 (GRCm39) |
D389A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,049 (GRCm39) |
T52A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,557 (GRCm39) |
E2229G |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,472,803 (GRCm39) |
V127M |
probably damaging |
Het |
| Gpc2 |
A |
T |
5: 138,277,172 (GRCm39) |
F85Y |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,764 (GRCm39) |
L793S |
probably benign |
Het |
| Irag1 |
C |
G |
7: 110,495,061 (GRCm39) |
E455Q |
probably damaging |
Het |
| Itpr3 |
G |
C |
17: 27,308,269 (GRCm39) |
G298R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,038,261 (GRCm39) |
C1024S |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,430,954 (GRCm39) |
Y185C |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,121,615 (GRCm39) |
D227N |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,524 (GRCm39) |
L1184* |
probably null |
Het |
| Or10s1 |
T |
A |
9: 39,986,109 (GRCm39) |
Y173N |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,634 (GRCm39) |
R227W |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,759,853 (GRCm39) |
M269L |
probably benign |
Het |
| Parp9 |
T |
G |
16: 35,774,042 (GRCm39) |
V338G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,446 (GRCm39) |
E888K |
possibly damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,585 (GRCm39) |
E862K |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,608,317 (GRCm39) |
T3040A |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,464 (GRCm39) |
E1026G |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,580 (GRCm39) |
R282* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,990,148 (GRCm39) |
K765* |
probably null |
Het |
| Rprd2 |
G |
A |
3: 95,672,328 (GRCm39) |
T1025M |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,212,983 (GRCm39) |
Y1341H |
possibly damaging |
Het |
| Scn5a |
C |
G |
9: 119,318,977 (GRCm39) |
D1554H |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,870 (GRCm39) |
I102V |
probably benign |
Het |
| Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,925,834 (GRCm39) |
G291R |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,720 (GRCm39) |
V418A |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,076,078 (GRCm39) |
T24A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 7,012,925 (GRCm39) |
D53G |
probably benign |
Het |
| Stk36 |
T |
C |
1: 74,649,979 (GRCm39) |
W245R |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,189,156 (GRCm39) |
|
probably null |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,194,288 (GRCm39) |
P1163S |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,186 (GRCm39) |
N263K |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,883,995 (GRCm39) |
M333V |
probably benign |
Het |
| Tmem45a |
T |
C |
16: 56,642,767 (GRCm39) |
M135V |
probably benign |
Het |
| Trmt13 |
T |
A |
3: 116,376,346 (GRCm39) |
K348N |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,070,868 (GRCm39) |
M534L |
probably damaging |
Het |
| Ttll13 |
G |
A |
7: 79,906,778 (GRCm39) |
R513K |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Washc3 |
T |
C |
10: 88,081,635 (GRCm39) |
V173A |
possibly damaging |
Het |
| Zc2hc1b |
A |
T |
10: 13,047,049 (GRCm39) |
C21S |
probably damaging |
Het |
| Zfp944 |
T |
A |
17: 22,558,560 (GRCm39) |
H229L |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,573 (GRCm39) |
I147N |
probably benign |
Het |
|
| Other mutations in Spata31d1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Spata31d1b
|
APN |
13 |
59,860,280 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02317:Spata31d1b
|
APN |
13 |
59,865,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02885:Spata31d1b
|
APN |
13 |
59,866,941 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0017:Spata31d1b
|
UTSW |
13 |
59,863,883 (GRCm39) |
missense |
probably benign |
|
|
R0071:Spata31d1b
|
UTSW |
13 |
59,863,163 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0071:Spata31d1b
|
UTSW |
13 |
59,863,163 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0595:Spata31d1b
|
UTSW |
13 |
59,864,091 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0961:Spata31d1b
|
UTSW |
13 |
59,865,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1054:Spata31d1b
|
UTSW |
13 |
59,865,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1124:Spata31d1b
|
UTSW |
13 |
59,864,468 (GRCm39) |
missense |
probably benign |
|
|
R1338:Spata31d1b
|
UTSW |
13 |
59,865,975 (GRCm39) |
frame shift |
probably null |
|
|
R1539:Spata31d1b
|
UTSW |
13 |
59,863,733 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1662:Spata31d1b
|
UTSW |
13 |
59,864,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1688:Spata31d1b
|
UTSW |
13 |
59,863,274 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1776:Spata31d1b
|
UTSW |
13 |
59,864,381 (GRCm39) |
missense |
probably benign |
|
|
R1793:Spata31d1b
|
UTSW |
13 |
59,863,779 (GRCm39) |
missense |
probably benign |
|
|
R1838:Spata31d1b
|
UTSW |
13 |
59,865,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1838:Spata31d1b
|
UTSW |
13 |
59,863,671 (GRCm39) |
missense |
probably benign |
|
|
R1861:Spata31d1b
|
UTSW |
13 |
59,865,150 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1903:Spata31d1b
|
UTSW |
13 |
59,865,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1940:Spata31d1b
|
UTSW |
13 |
59,865,835 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1994:Spata31d1b
|
UTSW |
13 |
59,864,194 (GRCm39) |
missense |
probably benign |
|
|
R1995:Spata31d1b
|
UTSW |
13 |
59,864,194 (GRCm39) |
missense |
probably benign |
|
|
R2407:Spata31d1b
|
UTSW |
13 |
59,864,660 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3692:Spata31d1b
|
UTSW |
13 |
59,865,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4576:Spata31d1b
|
UTSW |
13 |
59,864,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Spata31d1b
|
UTSW |
13 |
59,866,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Spata31d1b
|
UTSW |
13 |
59,864,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4749:Spata31d1b
|
UTSW |
13 |
59,866,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Spata31d1b
|
UTSW |
13 |
59,863,535 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4808:Spata31d1b
|
UTSW |
13 |
59,863,535 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4844:Spata31d1b
|
UTSW |
13 |
59,866,169 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4942:Spata31d1b
|
UTSW |
13 |
59,864,917 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4953:Spata31d1b
|
UTSW |
13 |
59,864,097 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5093:Spata31d1b
|
UTSW |
13 |
59,863,838 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5169:Spata31d1b
|
UTSW |
13 |
59,864,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Spata31d1b
|
UTSW |
13 |
59,866,032 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5386:Spata31d1b
|
UTSW |
13 |
59,866,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5502:Spata31d1b
|
UTSW |
13 |
59,864,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5751:Spata31d1b
|
UTSW |
13 |
59,866,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6054:Spata31d1b
|
UTSW |
13 |
59,863,464 (GRCm39) |
missense |
probably benign |
|
|
R6433:Spata31d1b
|
UTSW |
13 |
59,864,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6571:Spata31d1b
|
UTSW |
13 |
59,865,269 (GRCm39) |
missense |
probably benign |
|
|
R6980:Spata31d1b
|
UTSW |
13 |
59,863,236 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7047:Spata31d1b
|
UTSW |
13 |
59,860,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Spata31d1b
|
UTSW |
13 |
59,866,028 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7273:Spata31d1b
|
UTSW |
13 |
59,865,446 (GRCm39) |
missense |
probably benign |
|
|
R7359:Spata31d1b
|
UTSW |
13 |
59,860,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Spata31d1b
|
UTSW |
13 |
59,864,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Spata31d1b
|
UTSW |
13 |
59,863,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7519:Spata31d1b
|
UTSW |
13 |
59,864,726 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7548:Spata31d1b
|
UTSW |
13 |
59,864,468 (GRCm39) |
missense |
probably benign |
|
|
R7586:Spata31d1b
|
UTSW |
13 |
59,866,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Spata31d1b
|
UTSW |
13 |
59,863,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7778:Spata31d1b
|
UTSW |
13 |
59,865,047 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7824:Spata31d1b
|
UTSW |
13 |
59,865,047 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7989:Spata31d1b
|
UTSW |
13 |
59,866,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8078:Spata31d1b
|
UTSW |
13 |
59,863,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8176:Spata31d1b
|
UTSW |
13 |
59,865,117 (GRCm39) |
missense |
probably benign |
|
|
R8530:Spata31d1b
|
UTSW |
13 |
59,864,964 (GRCm39) |
missense |
unknown |
|
|
R8776:Spata31d1b
|
UTSW |
13 |
59,863,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8776-TAIL:Spata31d1b
|
UTSW |
13 |
59,863,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9385:Spata31d1b
|
UTSW |
13 |
59,863,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9476:Spata31d1b
|
UTSW |
13 |
59,863,467 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9522:Spata31d1b
|
UTSW |
13 |
59,864,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9786:Spata31d1b
|
UTSW |
13 |
59,866,155 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9789:Spata31d1b
|
UTSW |
13 |
59,860,196 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Spata31d1b
|
UTSW |
13 |
59,866,674 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1177:Spata31d1b
|
UTSW |
13 |
59,863,265 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Spata31d1b
|
UTSW |
13 |
59,860,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCAGGGAGACACAAGG -3'
(R):5'- AACGGTCATAGGCGTTAGTGG -3'
Sequencing Primer
(F):5'- ACACAAGGGCCTGCCATGTAG -3'
(R):5'- TCAGGGCCTCACTGTGTAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation