Incidental Mutation 'R8206:Spata31d1d'
ID |
635932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1d
|
Ensembl Gene |
ENSMUSG00000043986 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1D |
Synonyms |
4932411G14Rik, Fam75d1d |
MMRRC Submission |
067629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8206 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59873739-59879566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59879344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 64
(V64G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052978]
|
AlphaFold |
E9Q5W2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052978
AA Change: V64G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000128200 Gene: ENSMUSG00000043986 AA Change: V64G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:DUF4599
|
70 |
155 |
5.4e-28 |
PFAM |
low complexity region
|
228 |
238 |
N/A |
INTRINSIC |
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
Pfam:FAM75
|
383 |
733 |
2.6e-93 |
PFAM |
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1129 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
G |
10: 88,860,958 (GRCm39) |
Y342H |
probably damaging |
Het |
Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
Arhgap26 |
C |
A |
18: 39,439,803 (GRCm39) |
S247* |
probably null |
Het |
Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
Nrp1 |
A |
G |
8: 129,184,438 (GRCm39) |
D361G |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,258,611 (GRCm39) |
|
probably null |
Het |
Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,612,717 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Spata31d1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01474:Spata31d1d
|
APN |
13 |
59,878,029 (GRCm39) |
splice site |
probably benign |
|
IGL02399:Spata31d1d
|
APN |
13 |
59,877,954 (GRCm39) |
splice site |
probably benign |
|
IGL02531:Spata31d1d
|
APN |
13 |
59,875,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02687:Spata31d1d
|
APN |
13 |
59,875,678 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02815:Spata31d1d
|
APN |
13 |
59,874,678 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02893:Spata31d1d
|
APN |
13 |
59,873,793 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03037:Spata31d1d
|
APN |
13 |
59,873,947 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02796:Spata31d1d
|
UTSW |
13 |
59,876,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0612:Spata31d1d
|
UTSW |
13 |
59,875,787 (GRCm39) |
missense |
probably benign |
0.06 |
R1345:Spata31d1d
|
UTSW |
13 |
59,873,838 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1572:Spata31d1d
|
UTSW |
13 |
59,876,005 (GRCm39) |
missense |
probably benign |
0.01 |
R1736:Spata31d1d
|
UTSW |
13 |
59,874,311 (GRCm39) |
missense |
probably benign |
0.02 |
R1750:Spata31d1d
|
UTSW |
13 |
59,876,509 (GRCm39) |
missense |
probably benign |
0.33 |
R1894:Spata31d1d
|
UTSW |
13 |
59,875,936 (GRCm39) |
missense |
probably benign |
0.09 |
R2202:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2203:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2204:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2913:Spata31d1d
|
UTSW |
13 |
59,874,769 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3942:Spata31d1d
|
UTSW |
13 |
59,875,276 (GRCm39) |
missense |
probably benign |
0.18 |
R4513:Spata31d1d
|
UTSW |
13 |
59,876,368 (GRCm39) |
missense |
probably benign |
0.32 |
R4824:Spata31d1d
|
UTSW |
13 |
59,877,055 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4959:Spata31d1d
|
UTSW |
13 |
59,875,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Spata31d1d
|
UTSW |
13 |
59,875,334 (GRCm39) |
missense |
probably benign |
0.33 |
R5406:Spata31d1d
|
UTSW |
13 |
59,876,592 (GRCm39) |
missense |
probably benign |
0.33 |
R5618:Spata31d1d
|
UTSW |
13 |
59,874,214 (GRCm39) |
missense |
probably benign |
0.01 |
R5688:Spata31d1d
|
UTSW |
13 |
59,874,322 (GRCm39) |
missense |
probably damaging |
0.98 |
R5741:Spata31d1d
|
UTSW |
13 |
59,876,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5867:Spata31d1d
|
UTSW |
13 |
59,875,054 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5930:Spata31d1d
|
UTSW |
13 |
59,874,829 (GRCm39) |
missense |
probably benign |
|
R6263:Spata31d1d
|
UTSW |
13 |
59,873,797 (GRCm39) |
missense |
probably benign |
0.18 |
R6267:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6296:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6597:Spata31d1d
|
UTSW |
13 |
59,873,871 (GRCm39) |
missense |
probably benign |
0.01 |
R6985:Spata31d1d
|
UTSW |
13 |
59,879,429 (GRCm39) |
missense |
probably benign |
0.00 |
R7032:Spata31d1d
|
UTSW |
13 |
59,876,046 (GRCm39) |
missense |
probably benign |
|
R7174:Spata31d1d
|
UTSW |
13 |
59,876,394 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7322:Spata31d1d
|
UTSW |
13 |
59,874,790 (GRCm39) |
missense |
probably benign |
|
R7444:Spata31d1d
|
UTSW |
13 |
59,875,007 (GRCm39) |
missense |
probably benign |
0.33 |
R7946:Spata31d1d
|
UTSW |
13 |
59,878,606 (GRCm39) |
missense |
probably benign |
0.02 |
R8912:Spata31d1d
|
UTSW |
13 |
59,875,136 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8995:Spata31d1d
|
UTSW |
13 |
59,874,421 (GRCm39) |
missense |
probably benign |
0.33 |
R9215:Spata31d1d
|
UTSW |
13 |
59,875,823 (GRCm39) |
missense |
probably benign |
0.32 |
R9800:Spata31d1d
|
UTSW |
13 |
59,874,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1176:Spata31d1d
|
UTSW |
13 |
59,873,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGATGAAACTAATGCCTTCCATC -3'
(R):5'- GCCCCTGAGATTCACACTATG -3'
Sequencing Primer
(F):5'- TGAAACTAATGCCTTCCATCCCAGG -3'
(R):5'- AAAGGTTCTCTCCATTCTCAATAGC -3'
|
Posted On |
2020-07-13 |