Incidental Mutation 'R6054:Spata31d1b'
ID |
484327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1b
|
Ensembl Gene |
ENSMUSG00000091311 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
Synonyms |
Gm4934, Fam75d1b |
MMRRC Submission |
044222-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6054 (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 G
at 59863464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 204
(H204R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
AlphaFold |
E9QA57 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165133
AA Change: H204R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130813 Gene: ENSMUSG00000091311 AA Change: H204R
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: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,653,729 (GRCm39) |
S93P |
unknown |
Het |
Adam28 |
T |
A |
14: 68,879,601 (GRCm39) |
N149I |
probably benign |
Het |
Adam4 |
A |
C |
12: 81,466,828 (GRCm39) |
F598V |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,151,136 (GRCm39) |
H33R |
possibly damaging |
Het |
Apoh |
A |
G |
11: 108,286,801 (GRCm39) |
N75S |
probably damaging |
Het |
Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
Atm |
T |
C |
9: 53,371,173 (GRCm39) |
D2225G |
probably damaging |
Het |
Atp6v0a1 |
C |
T |
11: 100,930,715 (GRCm39) |
P514L |
possibly damaging |
Het |
Brd9 |
T |
A |
13: 74,088,860 (GRCm39) |
M195K |
probably damaging |
Het |
Cacna1a |
T |
G |
8: 85,283,414 (GRCm39) |
S755A |
probably damaging |
Het |
Ccdc85c |
T |
A |
12: 108,241,028 (GRCm39) |
H122L |
unknown |
Het |
Ccs |
A |
T |
19: 4,875,893 (GRCm39) |
D192E |
probably benign |
Het |
Cd3e |
G |
A |
9: 44,913,459 (GRCm39) |
T92M |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,314,279 (GRCm39) |
F1249L |
possibly damaging |
Het |
Col16a1 |
G |
A |
4: 129,955,515 (GRCm39) |
|
probably benign |
Het |
Col17a1 |
A |
G |
19: 47,668,859 (GRCm39) |
Y122H |
probably damaging |
Het |
Col28a1 |
G |
A |
6: 8,083,748 (GRCm39) |
P570S |
possibly damaging |
Het |
Dchs2 |
A |
T |
3: 83,253,543 (GRCm39) |
I2318L |
probably benign |
Het |
Dhx35 |
T |
A |
2: 158,660,219 (GRCm39) |
Y184N |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 49,990,453 (GRCm39) |
N297K |
probably benign |
Het |
Dsp |
G |
A |
13: 38,351,585 (GRCm39) |
G135S |
probably benign |
Het |
Efhb |
C |
T |
17: 53,706,027 (GRCm39) |
V837I |
possibly damaging |
Het |
Efs |
C |
T |
14: 55,158,614 (GRCm39) |
D15N |
probably damaging |
Het |
Fbxl19 |
C |
T |
7: 127,351,681 (GRCm39) |
T314I |
probably damaging |
Het |
Gm11595 |
A |
T |
11: 99,663,474 (GRCm39) |
C69S |
unknown |
Het |
Grxcr2 |
A |
G |
18: 42,119,743 (GRCm39) |
V199A |
probably benign |
Het |
Hadha |
T |
C |
5: 30,328,682 (GRCm39) |
E468G |
probably benign |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hps1 |
A |
T |
19: 42,759,217 (GRCm39) |
V125E |
probably damaging |
Het |
Hrg |
A |
T |
16: 22,772,412 (GRCm39) |
T74S |
probably benign |
Het |
Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
Leng8 |
C |
A |
7: 4,148,522 (GRCm39) |
|
probably null |
Het |
Maml2 |
TCAGCAGCAGCAGCAGCAGC |
TCAGCAGCAGCAGCAGC |
9: 13,532,695 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,908,851 (GRCm39) |
H154R |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,347,636 (GRCm39) |
E777G |
probably benign |
Het |
Miip |
A |
G |
4: 147,950,135 (GRCm39) |
S154P |
probably benign |
Het |
Mprip |
T |
C |
11: 59,649,251 (GRCm39) |
V985A |
probably benign |
Het |
Nmrk2 |
G |
A |
10: 81,035,468 (GRCm39) |
R158W |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,039,505 (GRCm39) |
S180P |
probably damaging |
Het |
Oga |
A |
G |
19: 45,764,571 (GRCm39) |
S190P |
probably damaging |
Het |
Opa1 |
T |
G |
16: 29,433,952 (GRCm39) |
S596A |
probably damaging |
Het |
Or1ad1 |
G |
A |
11: 50,875,631 (GRCm39) |
M34I |
probably benign |
Het |
Or51b4 |
A |
G |
7: 103,531,033 (GRCm39) |
V139A |
probably damaging |
Het |
Pcdha2 |
A |
G |
18: 37,073,857 (GRCm39) |
E496G |
probably damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,454,133 (GRCm39) |
V171G |
probably damaging |
Het |
Pramel6 |
A |
G |
2: 87,339,003 (GRCm39) |
T68A |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,418,219 (GRCm39) |
Y1719C |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,490,727 (GRCm39) |
N412S |
probably benign |
Het |
Rb1cc1 |
G |
T |
1: 6,320,058 (GRCm39) |
R1159L |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,700,146 (GRCm39) |
S1548T |
probably benign |
Het |
Rora |
A |
G |
9: 69,286,084 (GRCm39) |
I471M |
probably benign |
Het |
Scube1 |
C |
A |
15: 83,535,877 (GRCm39) |
V266L |
probably benign |
Het |
Sema6a |
C |
T |
18: 47,416,470 (GRCm39) |
D386N |
possibly damaging |
Het |
Siglecf |
T |
A |
7: 43,004,430 (GRCm39) |
L253Q |
probably damaging |
Het |
Syt17 |
T |
C |
7: 118,007,356 (GRCm39) |
T313A |
possibly damaging |
Het |
Tbc1d32 |
T |
C |
10: 56,038,304 (GRCm39) |
T578A |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,450 (GRCm39) |
S597G |
probably benign |
Het |
Vmn2r9 |
T |
A |
5: 108,996,126 (GRCm39) |
H174L |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,436,975 (GRCm39) |
S281T |
probably benign |
Het |
Wdr48 |
A |
G |
9: 119,736,843 (GRCm39) |
D22G |
probably damaging |
Het |
Zfp408 |
C |
A |
2: 91,479,636 (GRCm39) |
V61L |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,689 (GRCm39) |
A205T |
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 |
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'- ATCAGTCATCAGCTCTCCCAGG -3'
(R):5'- ATCTCATTGAGTCTGTCCACCAG -3'
Sequencing Primer
(F):5'- AGATGGTAAAGCCTCTTACTTGTGC -3'
(R):5'- ACCAGAGATCTCATGGTTTCCAG -3'
|
Posted On |
2017-07-14 |