Incidental Mutation 'R7047:Spata31d1b'
ID |
547383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1b
|
Ensembl Gene |
ENSMUSG00000091311 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
Synonyms |
Gm4934, Fam75d1b |
MMRRC Submission |
045145-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R7047 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59860249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 41
(Y41H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
[ENSMUST00000224982]
|
AlphaFold |
E9QA57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165133
AA Change: Y41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130813 Gene: ENSMUSG00000091311 AA Change: Y41H
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224982
|
Meta Mutation Damage Score |
0.2017 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
Capn11 |
G |
T |
17: 45,949,622 (GRCm39) |
S448* |
probably null |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,422 (GRCm39) |
N221S |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
Pan3 |
G |
A |
5: 147,483,175 (GRCm39) |
G452D |
probably damaging |
Het |
Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,591,148 (GRCm39) |
E181G |
possibly damaging |
Het |
Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
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 |
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'- CTCAGAAACCCTTGTGACTCTC -3'
(R):5'- ATTTATCCCAGACATCCCTCTGACA -3'
Sequencing Primer
(F):5'- TGGGACTCTAGTCAAGCTCAG -3'
(R):5'- TCCCTCTGACAGCCAAGCTC -3'
|
Posted On |
2019-05-13 |