Incidental Mutation 'R1688:Spata31d1b'
| ID |
189520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
039721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1688 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59863274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 141
(S141T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165133
AA Change: S141T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S141T
| 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 |
0.1638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
| Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
| Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
| Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
A |
G |
10: 79,864,929 (GRCm39) |
Y964C |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
| Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
| Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
| Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
| Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
| Dsc3 |
T |
A |
18: 20,099,284 (GRCm39) |
D744V |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,117,093 (GRCm39) |
F379L |
probably damaging |
Het |
| Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
| Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
| Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
| Immt |
A |
T |
6: 71,833,995 (GRCm39) |
H208L |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
| Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
| Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
| Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,416,363 (GRCm39) |
D47V |
possibly damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
| Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
| Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
| Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
| Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
| Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
possibly damaging |
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 |
|
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 |
|
|
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'- TGTTCATATCTCTCACAGCTCTCTGGAA -3'
(R):5'- GTTTGTCTTACACAGCCAGTGCCTT -3'
Sequencing Primer
(F):5'- TCTCTGGAAGAGCCCTCTGAG -3'
(R):5'- CATTGAGTCTGTCCACCAGAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation