Incidental Mutation 'R8530:Spata31d1b'
ID |
659014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1b
|
Ensembl Gene |
ENSMUSG00000091311 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
Synonyms |
Gm4934, Fam75d1b |
MMRRC Submission |
068500-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R8530 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59864964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 704
(N704I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
AlphaFold |
E9QA57 |
Predicted Effect |
unknown
Transcript: ENSMUST00000165133
AA Change: N704I
|
SMART Domains |
Protein: ENSMUSP00000130813 Gene: ENSMUSG00000091311 AA Change: N704I
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
C |
3: 137,774,586 (GRCm39) |
E1258D |
probably damaging |
Het |
4930407I10Rik |
T |
A |
15: 81,949,587 (GRCm39) |
H1161Q |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,249,071 (GRCm39) |
S394G |
probably damaging |
Het |
Akr1c12 |
A |
T |
13: 4,320,160 (GRCm39) |
F310Y |
probably benign |
Het |
Ank |
G |
A |
15: 27,544,490 (GRCm39) |
A84T |
probably benign |
Het |
Bcas1 |
A |
T |
2: 170,229,868 (GRCm39) |
I244K |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,339,043 (GRCm39) |
|
probably null |
Het |
Car14 |
T |
C |
3: 95,807,670 (GRCm39) |
H79R |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,295,860 (GRCm39) |
Y735H |
probably damaging |
Het |
Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
Cfi |
C |
T |
3: 129,644,382 (GRCm39) |
T126I |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,957,704 (GRCm39) |
H40L |
probably benign |
Het |
Dbh |
A |
G |
2: 27,058,318 (GRCm39) |
D162G |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,492,511 (GRCm39) |
K1657R |
probably damaging |
Het |
E2f7 |
T |
A |
10: 110,614,859 (GRCm39) |
V521D |
probably benign |
Het |
Eif3g |
A |
C |
9: 20,809,026 (GRCm39) |
S93A |
possibly damaging |
Het |
Fa2h |
T |
C |
8: 112,082,788 (GRCm39) |
E143G |
probably benign |
Het |
Foxc1 |
C |
A |
13: 31,991,771 (GRCm39) |
P194Q |
probably benign |
Het |
Fyco1 |
A |
G |
9: 123,669,605 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,461,819 (GRCm39) |
S256P |
probably damaging |
Het |
Gcc1 |
C |
A |
6: 28,420,730 (GRCm39) |
D196Y |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,325,910 (GRCm39) |
D1461E |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hps6 |
A |
T |
19: 45,991,959 (GRCm39) |
|
probably benign |
Het |
Macc1 |
A |
T |
12: 119,409,474 (GRCm39) |
I81F |
probably damaging |
Het |
Man2c1 |
G |
T |
9: 57,038,922 (GRCm39) |
D111Y |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,240,877 (GRCm39) |
I240N |
possibly damaging |
Het |
Matn1 |
A |
T |
4: 130,677,447 (GRCm39) |
K219* |
probably null |
Het |
Nup210 |
C |
G |
6: 91,053,627 (GRCm39) |
A297P |
possibly damaging |
Het |
Or5d43 |
A |
T |
2: 88,105,154 (GRCm39) |
L80I |
probably damaging |
Het |
Or6d12 |
T |
A |
6: 116,493,530 (GRCm39) |
I264K |
probably damaging |
Het |
Pcare |
T |
C |
17: 72,059,101 (GRCm39) |
Y192C |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
Phactr3 |
A |
G |
2: 177,925,819 (GRCm39) |
N360D |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Potefam3a |
T |
C |
8: 20,356,984 (GRCm38) |
N242S |
probably benign |
Het |
Qtrt2 |
C |
A |
16: 43,689,407 (GRCm39) |
G197V |
probably damaging |
Het |
Rabep1 |
A |
T |
11: 70,810,068 (GRCm39) |
L500F |
probably damaging |
Het |
Rhof |
T |
A |
5: 123,257,581 (GRCm39) |
D183V |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,027,678 (GRCm39) |
V95A |
probably benign |
Het |
Tas1r2 |
A |
T |
4: 139,389,460 (GRCm39) |
Y452F |
probably benign |
Het |
Tc2n |
A |
T |
12: 101,617,444 (GRCm39) |
F325Y |
possibly damaging |
Het |
Tiam2 |
G |
T |
17: 3,501,087 (GRCm39) |
V909L |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,139,524 (GRCm39) |
Y57F |
probably benign |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
A |
T |
7: 41,513,576 (GRCm39) |
W356R |
probably damaging |
Het |
Wars1 |
G |
A |
12: 108,848,818 (GRCm39) |
A43V |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,770,852 (GRCm39) |
I694N |
possibly damaging |
Het |
Zfp120 |
A |
G |
2: 149,959,168 (GRCm39) |
Y385H |
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 |
R8078:Spata31d1b
|
UTSW |
13 |
59,863,263 (GRCm39) |
missense |
probably damaging |
0.99 |
R8176:Spata31d1b
|
UTSW |
13 |
59,865,117 (GRCm39) |
missense |
probably benign |
|
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'- AAAGAACCGGGGACTCTCTTG -3'
(R):5'- ATGTTCACAGAATGCCTCGAC -3'
Sequencing Primer
(F):5'- GGATCACTTTCTTTAAGTACCAAGGC -3'
(R):5'- ACCTATCCACTGTGGTAGGGATC -3'
|
Posted On |
2021-01-18 |