Incidental Mutation 'R4942:Spata31d1b'
| ID |
383221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59864917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 688
(E688D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165133
AA Change: E688D
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: E688D
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,045,364 (GRCm39) |
S23P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,259,451 (GRCm39) |
C824* |
probably null |
Het |
| Adgre1 |
A |
G |
17: 57,713,903 (GRCm39) |
Y196C |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,051,009 (GRCm39) |
D542G |
possibly damaging |
Het |
| B3gat1 |
A |
G |
9: 26,666,894 (GRCm39) |
D42G |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,930,045 (GRCm39) |
A2412T |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,122,232 (GRCm39) |
R420G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,678 (GRCm39) |
Y3459H |
unknown |
Het |
| Cacnb1 |
T |
C |
11: 97,893,809 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cdk2ap2 |
G |
A |
19: 4,147,508 (GRCm39) |
|
probably null |
Het |
| Cep57 |
A |
G |
9: 13,724,723 (GRCm39) |
S265P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,710,524 (GRCm39) |
I893T |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,263 (GRCm39) |
E491V |
probably damaging |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,204,185 (GRCm39) |
I832N |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,910,316 (GRCm39) |
V487A |
possibly damaging |
Het |
| Cse1l |
C |
T |
2: 166,771,714 (GRCm39) |
T325I |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,863,468 (GRCm39) |
Q30R |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,948,116 (GRCm39) |
V1902A |
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,635,965 (GRCm39) |
F542L |
possibly damaging |
Het |
| Emid1 |
T |
G |
11: 5,079,430 (GRCm39) |
M323L |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,125 (GRCm39) |
D886G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,730,649 (GRCm39) |
E461G |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,225,536 (GRCm39) |
C572F |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,811,556 (GRCm39) |
H714R |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,428,391 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lypd6b |
C |
A |
2: 49,836,132 (GRCm39) |
H104Q |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,586 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,277 (GRCm39) |
D449V |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,556,599 (GRCm39) |
V1003A |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,552,944 (GRCm39) |
W1096L |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,133 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,547 (GRCm39) |
E171G |
possibly damaging |
Het |
| Nell1 |
T |
C |
7: 49,770,397 (GRCm39) |
V152A |
possibly damaging |
Het |
| Nherf4 |
C |
A |
9: 44,159,915 (GRCm39) |
G402* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,198,673 (GRCm39) |
V255E |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,928 (GRCm39) |
F27Y |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,375 (GRCm39) |
M1L |
probably null |
Het |
| Or52h7 |
A |
G |
7: 104,214,212 (GRCm39) |
I261M |
probably benign |
Het |
| Or52z14 |
G |
A |
7: 103,253,401 (GRCm39) |
R180H |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,407,171 (GRCm39) |
I50T |
probably damaging |
Het |
| P2ry13 |
G |
A |
3: 59,116,983 (GRCm39) |
T265I |
probably benign |
Het |
| Pde4d |
A |
G |
13: 108,996,733 (GRCm39) |
S12G |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,154 (GRCm39) |
N219K |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,509 (GRCm39) |
|
probably null |
Het |
| Psd2 |
A |
T |
18: 36,111,717 (GRCm39) |
D114V |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,672,884 (GRCm39) |
I770N |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,524,290 (GRCm39) |
M481K |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,078,814 (GRCm39) |
M45R |
probably damaging |
Het |
| Rpsa |
T |
A |
9: 119,960,129 (GRCm39) |
W231R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,998 (GRCm39) |
T2797N |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,602 (GRCm39) |
M1468K |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,137,589 (GRCm39) |
Y244H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,009,049 (GRCm39) |
D462V |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,737 (GRCm39) |
I181N |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,791,836 (GRCm39) |
F1785L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,811 (GRCm39) |
D2174E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,623,600 (GRCm39) |
V15326I |
probably damaging |
Het |
| Ubap2 |
T |
A |
4: 41,245,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
C |
T |
17: 23,177,321 (GRCm39) |
P702S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,980 (GRCm39) |
W142R |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,582 (GRCm39) |
Y459H |
probably damaging |
Het |
| Wsb2 |
C |
T |
5: 117,515,550 (GRCm39) |
T385M |
probably damaging |
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 |
|
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 |
|
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'- TCATGAGTCCCCAGTCAGAAC -3'
(R):5'- TCCACTGTGGTAGGGATCTC -3'
Sequencing Primer
(F):5'- GTCAGAACTGATCGACTTCTCTGAG -3'
(R):5'- GGGATCTCACCCCTGCTGATTTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation