Incidental Mutation 'R4844:Spata31d1b'
| ID |
372067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
042457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59866169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1106
(R1106C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165133
AA Change: R1106C
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: R1106C
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,634,824 (GRCm39) |
T147A |
probably benign |
Het |
| Acvrl1 |
T |
C |
15: 101,033,409 (GRCm39) |
S99P |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,825,675 (GRCm39) |
S1055C |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,658,667 (GRCm39) |
|
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,611,764 (GRCm39) |
K363E |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,562,967 (GRCm39) |
V886A |
possibly damaging |
Het |
| Atad5 |
G |
A |
11: 80,005,137 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
A |
G |
4: 35,213,565 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ccnf |
G |
T |
17: 24,449,331 (GRCm39) |
Y482* |
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,622,712 (GRCm39) |
D34G |
possibly damaging |
Het |
| Chst11 |
G |
T |
10: 83,026,923 (GRCm39) |
E117* |
probably null |
Het |
| Cobl |
A |
T |
11: 12,204,740 (GRCm39) |
L572Q |
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,477 (GRCm39) |
G263S |
probably damaging |
Het |
| Coq4 |
T |
C |
2: 29,686,026 (GRCm39) |
I205T |
possibly damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,915,813 (GRCm39) |
I62K |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,273,655 (GRCm39) |
S84P |
probably damaging |
Het |
| Dennd10 |
GTCT |
GT |
19: 60,823,435 (GRCm39) |
|
probably null |
Het |
| G6pc3 |
G |
A |
11: 102,084,057 (GRCm39) |
|
probably null |
Het |
| Gm10576 |
T |
C |
4: 100,911,707 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17511 |
G |
A |
7: 126,885,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,002,831 (GRCm39) |
S80P |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,216,508 (GRCm39) |
|
probably benign |
Het |
| Gpr107 |
T |
A |
2: 31,078,686 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,478,242 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ighv14-1 |
T |
G |
12: 113,895,622 (GRCm39) |
Q101P |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,737 (GRCm39) |
D885G |
probably benign |
Het |
| Il15ra |
G |
A |
2: 11,723,082 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,115,517 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,134,299 (GRCm39) |
N467I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,067,248 (GRCm39) |
V1023A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,111 (GRCm39) |
T2000A |
probably benign |
Het |
| Lpxn |
A |
G |
19: 12,810,536 (GRCm39) |
T327A |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,151 (GRCm39) |
T362A |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,651 (GRCm39) |
I1560T |
possibly damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,062,574 (GRCm39) |
S17P |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,393,742 (GRCm39) |
H335L |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,902 (GRCm39) |
D191G |
probably damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,214,201 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
C |
A |
7: 138,835,502 (GRCm39) |
S314R |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,500,524 (GRCm39) |
Q95* |
probably null |
Het |
| Serpine2 |
A |
T |
1: 79,777,241 (GRCm39) |
L192* |
probably null |
Het |
| Smpdl3b |
T |
C |
4: 132,465,369 (GRCm39) |
I322M |
probably damaging |
Het |
| Sprr2k |
T |
G |
3: 92,336,732 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
A |
6: 142,774,996 (GRCm39) |
R194S |
possibly damaging |
Het |
| Sv2a |
T |
A |
3: 96,095,695 (GRCm39) |
V337D |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,385,281 (GRCm39) |
R637W |
possibly damaging |
Het |
| Tcp11l2 |
G |
T |
10: 84,449,555 (GRCm39) |
V507L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,321,630 (GRCm39) |
Y2262H |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,230,588 (GRCm39) |
E529G |
probably damaging |
Het |
| Vash2 |
C |
T |
1: 190,710,691 (GRCm39) |
|
probably benign |
Het |
| Vmn1r194 |
T |
C |
13: 22,429,223 (GRCm39) |
V280A |
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,380,297 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp111 |
C |
T |
7: 23,898,801 (GRCm39) |
C270Y |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,340 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,225 (GRCm39) |
Y498F |
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 |
|
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 |
|
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'- CAGGGAATGTCATTTCTCCACAAC -3'
(R):5'- TGAACACAGTGTCCCTTCCC -3'
Sequencing Primer
(F):5'- GAATGTCATTTCTCCACAACTCTGAG -3'
(R):5'- ACAGTGTCCCTTCCCTGTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation