Incidental Mutation 'R8078:Spata31d1b'
ID |
629159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1b
|
Ensembl Gene |
ENSMUSG00000091311 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
Synonyms |
Gm4934, Fam75d1b |
MMRRC Submission |
067512-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R8078 (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 59863263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 137
(D137G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
AlphaFold |
E9QA57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165133
AA Change: D137G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130813 Gene: ENSMUSG00000091311 AA Change: D137G
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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.9%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,251,279 (GRCm39) |
V2884I |
probably benign |
Het |
Actl10 |
T |
A |
2: 154,394,490 (GRCm39) |
N147K |
probably benign |
Het |
Agpat2 |
C |
A |
2: 26,494,113 (GRCm39) |
C37F |
possibly damaging |
Het |
Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
Ankrd26 |
T |
A |
6: 118,494,854 (GRCm39) |
|
probably null |
Het |
Bcas1 |
T |
C |
2: 170,260,532 (GRCm39) |
E49G |
possibly damaging |
Het |
Birc2 |
A |
G |
9: 7,858,742 (GRCm39) |
V331A |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,168,626 (GRCm39) |
V314A |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,408,749 (GRCm39) |
V2407A |
probably benign |
Het |
Chd5 |
C |
A |
4: 152,445,448 (GRCm39) |
N446K |
possibly damaging |
Het |
Clec9a |
A |
G |
6: 129,385,996 (GRCm39) |
S27G |
probably benign |
Het |
Coro1c |
G |
T |
5: 114,020,164 (GRCm39) |
A17E |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
Ddx55 |
G |
A |
5: 124,704,451 (GRCm39) |
V353M |
probably damaging |
Het |
Farp1 |
T |
A |
14: 121,513,712 (GRCm39) |
S836T |
probably benign |
Het |
Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
Flg2 |
T |
G |
3: 93,107,582 (GRCm39) |
D22E |
probably damaging |
Het |
Glis1 |
T |
A |
4: 107,425,099 (GRCm39) |
C237S |
probably damaging |
Het |
Gm5519 |
T |
C |
19: 33,800,357 (GRCm39) |
V17A |
possibly damaging |
Het |
Gucy2c |
C |
A |
6: 136,674,919 (GRCm39) |
G1055C |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,235,333 (GRCm39) |
Y123H |
probably damaging |
Het |
Idh1 |
T |
A |
1: 65,200,225 (GRCm39) |
I380F |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,577 (GRCm39) |
N584K |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,498,942 (GRCm39) |
E363G |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,098,289 (GRCm39) |
T1829S |
|
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Luzp2 |
T |
A |
7: 54,702,510 (GRCm39) |
Y24* |
probably null |
Het |
Masp2 |
A |
T |
4: 148,698,235 (GRCm39) |
T439S |
probably benign |
Het |
Meioc |
G |
A |
11: 102,559,226 (GRCm39) |
W49* |
probably null |
Het |
Mtor |
T |
G |
4: 148,552,744 (GRCm39) |
I749S |
probably benign |
Het |
Myo16 |
T |
A |
8: 10,612,078 (GRCm39) |
V1241D |
unknown |
Het |
Ncam2 |
G |
T |
16: 81,240,136 (GRCm39) |
R199L |
possibly damaging |
Het |
Nyap2 |
A |
G |
1: 81,218,772 (GRCm39) |
S265G |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,813,615 (GRCm39) |
D268V |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,061,519 (GRCm39) |
F175I |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,022,054 (GRCm39) |
T823A |
|
Het |
Phc2 |
T |
A |
4: 128,604,855 (GRCm39) |
I197N |
probably damaging |
Het |
Plaat3 |
C |
T |
19: 7,556,526 (GRCm39) |
T109I |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,750,107 (GRCm39) |
I518M |
probably benign |
Het |
Prg2 |
T |
A |
2: 84,812,604 (GRCm39) |
C105S |
probably benign |
Het |
Rab39 |
A |
G |
9: 53,617,255 (GRCm39) |
L54P |
possibly damaging |
Het |
Rell1 |
T |
A |
5: 64,097,064 (GRCm39) |
|
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Slc4a4 |
T |
C |
5: 89,327,566 (GRCm39) |
Y668H |
probably benign |
Het |
Sncg |
C |
A |
14: 34,096,727 (GRCm39) |
|
probably benign |
Het |
Tas1r1 |
C |
T |
4: 152,112,803 (GRCm39) |
G750D |
probably damaging |
Het |
Tcea3 |
A |
T |
4: 135,981,825 (GRCm39) |
D61V |
probably damaging |
Het |
Tfap2c |
T |
A |
2: 172,393,392 (GRCm39) |
H102Q |
probably damaging |
Het |
Tmem150a |
T |
A |
6: 72,335,306 (GRCm39) |
L95H |
probably damaging |
Het |
Tnfrsf11a |
A |
T |
1: 105,745,409 (GRCm39) |
D149V |
probably damaging |
Het |
Tsc22d2 |
C |
A |
3: 58,323,453 (GRCm39) |
A115E |
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,810,507 (GRCm39) |
F431Y |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r85 |
C |
A |
10: 130,265,364 (GRCm39) |
E40* |
probably null |
Het |
Zfp606 |
G |
A |
7: 12,214,942 (GRCm39) |
A57T |
possibly damaging |
Het |
Zfp760 |
T |
C |
17: 21,942,436 (GRCm39) |
V537A |
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 |
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'- CAAAATAGGCTGCCTTTCATGG -3'
(R):5'- TCAAGGGAAGTGTGGACTCTGG -3'
Sequencing Primer
(F):5'- ATGGCCCCACAGCTTGATG -3'
(R):5'- GCTGAGTAGAAGCCTTCTAGG -3'
|
Posted On |
2020-06-30 |