Incidental Mutation 'R7824:Spata31d1b'
| ID |
602088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
045878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R7824 (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 T
at 59865047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 732
(R732W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165133
AA Change: R732W
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: R732W
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7a |
T |
C |
15: 77,273,275 (GRCm39) |
R396G |
probably damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,376,666 (GRCm39) |
R267S |
probably damaging |
Het |
| Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
| Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
| Bub1b |
T |
G |
2: 118,457,448 (GRCm39) |
|
probably null |
Het |
| Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
| Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,936 (GRCm39) |
N148D |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
| Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
| Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
| Ica1l |
T |
G |
1: 60,047,029 (GRCm39) |
M241L |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,426 (GRCm39) |
D283E |
|
Het |
| Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
| Ism2 |
A |
C |
12: 87,326,634 (GRCm39) |
V435G |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,354,002 (GRCm39) |
H271R |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
| Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
| Map3k21 |
C |
G |
8: 126,637,702 (GRCm39) |
P96R |
probably benign |
Het |
| Mfge8 |
G |
T |
7: 78,795,135 (GRCm39) |
|
probably null |
Het |
| Mical2 |
T |
A |
7: 112,006,844 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,284 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
| Or6c5c |
A |
G |
10: 129,298,665 (GRCm39) |
N40S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,388,295 (GRCm39) |
|
probably null |
Het |
| Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
| Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
| Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,703,037 (GRCm39) |
S533T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,865,375 (GRCm39) |
S671P |
probably damaging |
Het |
| Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
| Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,360,661 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
| Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,011,746 (GRCm39) |
M476K |
probably benign |
Het |
| Tpgs2 |
G |
T |
18: 25,262,922 (GRCm39) |
F232L |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,991,566 (GRCm39) |
H1992Q |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,635,778 (GRCm39) |
K270E |
|
Het |
| Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
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 |
|
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'- TAGCTCTCGAAATCGGATGCC -3'
(R):5'- ACATGCCATTGGTGCCAGATC -3'
Sequencing Primer
(F):5'- CTAGAAGGCATTCTCTACGGG -3'
(R):5'- ATTGGTGCCAGATCTTTCATTCG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation