Incidental Mutation 'R8176:Spata31d1b'
| ID |
634365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
067601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59865117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 755
(N755S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165133
AA Change: N755S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: N755S
| 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: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
A |
12: 31,235,135 (GRCm39) |
F172I |
noncoding transcript |
Het |
| Aatk |
A |
G |
11: 119,907,241 (GRCm39) |
V154A |
probably damaging |
Het |
| Abca6 |
A |
C |
11: 110,135,020 (GRCm39) |
V255G |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,568,786 (GRCm39) |
K211E |
probably benign |
Het |
| Alg12 |
A |
G |
15: 88,690,084 (GRCm39) |
V470A |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 89,905,353 (GRCm39) |
H231Q |
probably damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,528 (GRCm39) |
Y28C |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,395,411 (GRCm39) |
F45L |
probably damaging |
Het |
| Btd |
T |
A |
14: 31,384,073 (GRCm39) |
F20I |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,844 (GRCm39) |
S51P |
probably benign |
Het |
| Capn7 |
C |
A |
14: 31,069,729 (GRCm39) |
F184L |
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,932,390 (GRCm39) |
|
probably benign |
Het |
| Cdc34 |
T |
C |
10: 79,518,362 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,851 (GRCm39) |
K429E |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,784,114 (GRCm39) |
N473S |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,806,926 (GRCm39) |
T136I |
probably damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,574,175 (GRCm39) |
L1032F |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,153,916 (GRCm39) |
V392I |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,484,598 (GRCm39) |
S1590L |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,786 (GRCm39) |
Y1524H |
possibly damaging |
Het |
| Dusp13b |
T |
C |
14: 21,797,549 (GRCm39) |
I103V |
possibly damaging |
Het |
| Eeig1 |
A |
G |
2: 32,453,624 (GRCm39) |
T158A |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,707,874 (GRCm39) |
Y763C |
probably damaging |
Het |
| Fam117a |
G |
T |
11: 95,227,965 (GRCm39) |
R25L |
unknown |
Het |
| Fcgbp |
T |
C |
7: 27,791,174 (GRCm39) |
S812P |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,965 (GRCm39) |
N399K |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,017 (GRCm39) |
I168N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,562,761 (GRCm39) |
I582K |
possibly damaging |
Het |
| Gm21915 |
T |
A |
9: 40,582,266 (GRCm39) |
S120T |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,460,429 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
T |
13: 14,422,286 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
A |
10: 57,381,290 (GRCm39) |
Y293* |
probably null |
Het |
| Ints10 |
T |
A |
8: 69,255,603 (GRCm39) |
Y198N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,001,957 (GRCm39) |
E399G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,645,597 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,285,122 (GRCm39) |
S1031P |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,387 (GRCm39) |
T279A |
probably benign |
Het |
| Ly6a |
C |
T |
15: 74,868,300 (GRCm39) |
|
probably null |
Het |
| Marchf4 |
T |
C |
1: 72,573,998 (GRCm39) |
E100G |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,084,456 (GRCm39) |
E84G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,467,886 (GRCm39) |
Y808C |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,858 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,126,977 (GRCm39) |
S428P |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,931 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,383 (GRCm39) |
V134I |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or6c5 |
T |
G |
10: 129,074,747 (GRCm39) |
M243R |
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,687 (GRCm39) |
D512G |
probably damaging |
Het |
| Pex11b |
G |
T |
3: 96,551,027 (GRCm39) |
V171L |
probably benign |
Het |
| Potefam2 |
T |
C |
7: 62,432,783 (GRCm39) |
|
probably null |
Het |
| Ppil3 |
A |
T |
1: 58,480,078 (GRCm39) |
C32* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,095,656 (GRCm39) |
Y387H |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,605 (GRCm39) |
H518N |
possibly damaging |
Het |
| Rhot2 |
T |
C |
17: 26,063,068 (GRCm39) |
Y58C |
probably damaging |
Het |
| Sec16b |
C |
A |
1: 157,362,981 (GRCm39) |
H271N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,252 (GRCm39) |
D812G |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,878 (GRCm39) |
E261G |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,767,689 (GRCm39) |
M419K |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,270,465 (GRCm39) |
C1281Y |
probably damaging |
Het |
| Tm9sf2 |
T |
G |
14: 122,374,913 (GRCm39) |
S196R |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,292,837 (GRCm39) |
H946L |
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 |
|
R7064:Spata31d1b
|
UTSW |
13 |
59,863,955 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- AGGGGCCACAATGACCAATC -3'
(R):5'- GGTGATGTGTTCTTCCAGCATC -3'
Sequencing Primer
(F):5'- CAATCCTGGGGTAACAACTTTCAGG -3'
(R):5'- CTCTTTGCTAGGACTAAGCGCTAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation