Incidental Mutation 'R4742:Spata31d1b'
ID |
358147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1b
|
Ensembl Gene |
ENSMUSG00000091311 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
Synonyms |
Gm4934, Fam75d1b |
MMRRC Submission |
041966-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4742 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59864426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 525
(H525N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
AlphaFold |
E9QA57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165133
AA Change: H525N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130813 Gene: ENSMUSG00000091311 AA Change: H525N
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 |
0.3128 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
94% (51/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8030423J24Rik |
G |
T |
13: 71,031,644 (GRCm39) |
R17L |
unknown |
Het |
Acan |
T |
C |
7: 78,750,517 (GRCm39) |
F1763L |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,401,328 (GRCm39) |
L108* |
probably null |
Het |
Anapc2 |
T |
A |
2: 25,163,555 (GRCm39) |
|
probably null |
Het |
Apbb1ip |
A |
G |
2: 22,716,928 (GRCm39) |
K177E |
unknown |
Het |
Azgp1 |
T |
A |
5: 137,987,888 (GRCm39) |
Y223* |
probably null |
Het |
Cfap44 |
T |
G |
16: 44,269,615 (GRCm39) |
|
probably null |
Het |
Chfr |
C |
T |
5: 110,291,464 (GRCm39) |
T94I |
probably benign |
Het |
Chrna10 |
T |
G |
7: 101,762,344 (GRCm39) |
Q282P |
probably damaging |
Het |
Col9a3 |
G |
T |
2: 180,245,180 (GRCm39) |
G130W |
unknown |
Het |
Dcaf1 |
A |
G |
9: 106,735,754 (GRCm39) |
T901A |
probably benign |
Het |
Dock2 |
T |
G |
11: 34,244,170 (GRCm39) |
|
probably null |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Fdxacb1 |
A |
G |
9: 50,679,968 (GRCm39) |
|
probably benign |
Het |
Fhip1b |
A |
G |
7: 105,033,518 (GRCm39) |
V566A |
probably damaging |
Het |
Il31ra |
G |
T |
13: 112,660,501 (GRCm39) |
S615* |
probably null |
Het |
Itgam |
C |
T |
7: 127,712,245 (GRCm39) |
S827F |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,847,299 (GRCm39) |
V512E |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nab2 |
T |
C |
10: 127,498,696 (GRCm39) |
T458A |
probably benign |
Het |
Nadsyn1 |
A |
G |
7: 143,352,367 (GRCm39) |
|
probably benign |
Het |
Nek10 |
A |
G |
14: 14,861,624 (GRCm38) |
D560G |
probably null |
Het |
Or2ag13 |
A |
T |
7: 106,472,635 (GRCm39) |
N272K |
probably damaging |
Het |
Or2ak6 |
A |
G |
11: 58,592,685 (GRCm39) |
R53G |
probably benign |
Het |
Or8b46 |
T |
C |
9: 38,450,952 (GRCm39) |
S254P |
probably damaging |
Het |
Pou1f1 |
C |
A |
16: 65,320,367 (GRCm39) |
P19T |
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,773,783 (GRCm39) |
D329E |
probably damaging |
Het |
Prkn |
T |
A |
17: 11,456,591 (GRCm39) |
|
probably null |
Het |
Ptprm |
A |
C |
17: 67,051,746 (GRCm39) |
Y962* |
probably null |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,839,144 (GRCm39) |
T154A |
possibly damaging |
Het |
Slitrk3 |
T |
C |
3: 72,955,898 (GRCm39) |
D958G |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,227,697 (GRCm39) |
R1461G |
probably benign |
Het |
Tas2r105 |
G |
A |
6: 131,663,814 (GRCm39) |
H205Y |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,446,691 (GRCm39) |
N809D |
probably damaging |
Het |
Thoc2l |
A |
T |
5: 104,666,723 (GRCm39) |
N415I |
probably benign |
Het |
Tns1 |
A |
G |
1: 74,163,449 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,490 (GRCm39) |
|
probably null |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,026,765 (GRCm39) |
D135G |
possibly damaging |
Het |
Usp3 |
A |
G |
9: 66,427,959 (GRCm39) |
Y339H |
probably damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,963,236 (GRCm39) |
K304* |
probably null |
Het |
Vmn2r92 |
A |
G |
17: 18,387,119 (GRCm39) |
T153A |
probably benign |
Het |
Xkr5 |
A |
T |
8: 18,998,746 (GRCm39) |
*55K |
probably null |
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 |
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 |
|
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'- GCATTGGTCTGCTTCAACAG -3'
(R):5'- AGGAGCGACTTCCCAACAAG -3'
Sequencing Primer
(F):5'- GAGGCCTCCATTGCTGACTAC -3'
(R):5'- GACTTCCCAACAAGACCTTGG -3'
|
Posted On |
2015-11-11 |