Incidental Mutation 'R7519:Spata31d1b'
| ID |
582582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
045591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R7519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59864726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 625
(D625N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165133
AA Change: D625N
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: D625N
| 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: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,155 (GRCm39) |
R132K |
|
Het |
| Acaca |
T |
C |
11: 84,136,682 (GRCm39) |
S571P |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,223,869 (GRCm39) |
K1286N |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,079,132 (GRCm39) |
D1477G |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,054,039 (GRCm39) |
T207I |
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGCGG |
CGGCGGTGGCGG |
17: 5,046,128 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,418,074 (GRCm39) |
N2934K |
possibly damaging |
Het |
| Axin2 |
T |
G |
11: 108,833,072 (GRCm39) |
V419G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,644,257 (GRCm39) |
T108A |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 135,998,494 (GRCm39) |
R174Q |
probably damaging |
Het |
| Cdh18 |
G |
T |
15: 23,474,298 (GRCm39) |
A723S |
possibly damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,851 (GRCm39) |
M307T |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,203,124 (GRCm39) |
I1193F |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,683,332 (GRCm39) |
G945W |
probably damaging |
Het |
| Ctnna1 |
T |
G |
18: 35,307,424 (GRCm39) |
I140M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,390,629 (GRCm39) |
S3213P |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,785 (GRCm39) |
S258G |
probably benign |
Het |
| Fbxo15 |
T |
G |
18: 84,982,359 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,785,724 (GRCm39) |
Y387C |
probably damaging |
Het |
| Flt3l |
G |
A |
7: 44,783,269 (GRCm39) |
T176I |
unknown |
Het |
| Galk2 |
G |
A |
2: 125,825,172 (GRCm39) |
R456H |
possibly damaging |
Het |
| Gm10840 |
T |
C |
11: 106,051,716 (GRCm39) |
L14P |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,220,094 (GRCm39) |
T260A |
possibly damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,638 (GRCm39) |
D274E |
probably damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,556 (GRCm39) |
D484E |
probably damaging |
Het |
| Hbp1 |
A |
T |
12: 31,983,374 (GRCm39) |
V360D |
probably damaging |
Het |
| Heatr5b |
G |
T |
17: 79,062,646 (GRCm39) |
Q1968K |
probably benign |
Het |
| Igsf8 |
C |
T |
1: 172,143,874 (GRCm39) |
T72M |
probably benign |
Het |
| Kera |
A |
T |
10: 97,444,884 (GRCm39) |
N81I |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,900 (GRCm39) |
V176I |
probably benign |
Het |
| Klrb1 |
A |
T |
6: 128,689,252 (GRCm39) |
V73E |
probably damaging |
Het |
| Krtap31-2 |
T |
C |
11: 99,827,501 (GRCm39) |
L111P |
possibly damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,799,725 (GRCm39) |
S106P |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,324,128 (GRCm39) |
T792A |
probably benign |
Het |
| Ndufaf4 |
A |
C |
4: 24,901,847 (GRCm39) |
T132P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,785,348 (GRCm39) |
V1453A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,523,753 (GRCm39) |
I158V |
probably benign |
Het |
| Or6c76 |
A |
C |
10: 129,612,091 (GRCm39) |
I103L |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,139,319 (GRCm39) |
L316* |
probably null |
Het |
| Pcdha7 |
T |
C |
18: 37,109,285 (GRCm39) |
M770T |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,258,984 (GRCm39) |
S253P |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,876,435 (GRCm39) |
Y12H |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,268 (GRCm39) |
N508S |
probably benign |
Het |
| Pla1a |
A |
G |
16: 38,235,208 (GRCm39) |
I162T |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,502,048 (GRCm39) |
L446M |
probably damaging |
Het |
| Retn |
A |
T |
8: 3,706,079 (GRCm39) |
S22C |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,569,309 (GRCm39) |
L196P |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 177,988,126 (GRCm39) |
*1501W |
probably null |
Het |
| Tarbp1 |
T |
G |
8: 127,160,639 (GRCm39) |
T1271P |
possibly damaging |
Het |
| Uba1y |
T |
C |
Y: 821,567 (GRCm39) |
F154L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,705,925 (GRCm39) |
I1513F |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,524 (GRCm39) |
Q132L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,644,506 (GRCm39) |
T2454S |
|
Het |
| Wdr33 |
C |
A |
18: 32,029,823 (GRCm39) |
F1007L |
unknown |
Het |
| Zfp398 |
A |
G |
6: 47,836,407 (GRCm39) |
H201R |
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 |
|
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'- AGACGAGCAGCTTCTCAGTTC -3'
(R):5'- CCCGTAGAGAATGCCTTCTAGG -3'
Sequencing Primer
(F):5'- GGTTTACCCCTCATGGTCAAAAAGTC -3'
(R):5'- TAGGCATCCGATTTCGAGAGCTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation