Incidental Mutation 'R9385:Spata31d1b'
| ID |
710284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59860098-59867103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59863403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 184
(S184P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165133
AA Change: S184P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S184P
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,207,966 (GRCm39) |
I554T |
possibly damaging |
Het |
| Adamts7 |
C |
A |
9: 90,077,258 (GRCm39) |
C1308* |
probably null |
Het |
| Ank2 |
A |
G |
3: 126,753,366 (GRCm39) |
V305A |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,399 (GRCm39) |
N1627S |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,887 (GRCm39) |
Q1310L |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,322,551 (GRCm39) |
Y29* |
probably null |
Het |
| Card11 |
C |
A |
5: 140,871,276 (GRCm39) |
R742S |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,405,422 (GRCm39) |
D365G |
probably benign |
Het |
| Ccdc88b |
G |
A |
19: 6,833,533 (GRCm39) |
R211W |
probably benign |
Het |
| Cda |
T |
G |
4: 138,078,598 (GRCm39) |
I55L |
probably benign |
Het |
| Cdkl3 |
A |
C |
11: 51,926,779 (GRCm39) |
E577D |
probably benign |
Het |
| Cel |
T |
C |
2: 28,450,587 (GRCm39) |
D146G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,878 (GRCm39) |
L919S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,880 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,455,912 (GRCm39) |
S202L |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,473 (GRCm39) |
Q1045* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 16,034,756 (GRCm39) |
T2472A |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,601,069 (GRCm39) |
R22C |
probably benign |
Het |
| Ddit4 |
A |
G |
10: 59,787,178 (GRCm39) |
S53P |
probably damaging |
Het |
| Ddx52 |
G |
T |
11: 83,843,096 (GRCm39) |
C365F |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,361,972 (GRCm39) |
L3677I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,840,203 (GRCm39) |
T135A |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,207,185 (GRCm39) |
D216E |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,819,793 (GRCm39) |
D5175E |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,074,120 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Gm3264 |
T |
C |
14: 16,058,217 (GRCm39) |
I8T |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,675,486 (GRCm39) |
Y110N |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,413 (GRCm39) |
N286S |
probably benign |
Het |
| H2ac1 |
A |
T |
13: 24,118,679 (GRCm39) |
I79F |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,421,423 (GRCm39) |
D441G |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,994,349 (GRCm39) |
D762G |
probably damaging |
Het |
| Hyou1 |
C |
A |
9: 44,292,812 (GRCm39) |
Q141K |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,993 (GRCm39) |
I267T |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,396 (GRCm39) |
K770E |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,316,144 (GRCm39) |
R14H |
probably damaging |
Het |
| Nfxl1 |
C |
A |
5: 72,694,750 (GRCm39) |
V478F |
probably benign |
Het |
| Nhlrc3 |
A |
G |
3: 53,361,015 (GRCm39) |
W247R |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,876 (GRCm39) |
G527D |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,988,584 (GRCm39) |
E342G |
probably benign |
Het |
| Ntn1 |
C |
A |
11: 68,276,013 (GRCm39) |
G312C |
probably damaging |
Het |
| Opcml |
T |
C |
9: 28,586,459 (GRCm39) |
V59A |
possibly damaging |
Het |
| Opn1sw |
T |
G |
6: 29,379,425 (GRCm39) |
Y193S |
probably damaging |
Het |
| Or10ad1c |
C |
T |
15: 98,085,486 (GRCm39) |
S64N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,780 (GRCm39) |
*311K |
probably null |
Het |
| Pabpc4l |
A |
T |
3: 46,401,137 (GRCm39) |
V169E |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,982 (GRCm39) |
D1017G |
probably benign |
Het |
| Plagl2 |
C |
T |
2: 153,074,238 (GRCm39) |
C221Y |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,377 (GRCm39) |
N493K |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,431,724 (GRCm39) |
V571A |
possibly damaging |
Het |
| Pnma2 |
A |
G |
14: 67,153,371 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,929,467 (GRCm39) |
E1234D |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,528,561 (GRCm39) |
S74G |
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,645,563 (GRCm39) |
I330T |
probably damaging |
Het |
| Snrk |
A |
T |
9: 121,995,463 (GRCm39) |
D414V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,079,978 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
A |
T |
6: 133,032,241 (GRCm39) |
N172K |
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,700,356 (GRCm39) |
Q858K |
probably damaging |
Het |
| Tex55 |
T |
G |
16: 38,648,407 (GRCm39) |
D234A |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,044,209 (GRCm39) |
C102R |
unknown |
Het |
| Ugt8a |
A |
T |
3: 125,665,263 (GRCm39) |
D411E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,399,223 (GRCm39) |
D2404G |
|
Het |
| Vmn1r10 |
A |
C |
6: 57,090,833 (GRCm39) |
I142L |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,240,367 (GRCm39) |
T352A |
|
Het |
| Xpo7 |
A |
T |
14: 70,925,733 (GRCm39) |
D435E |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,683 (GRCm39) |
S33P |
probably 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 |
|
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 |
|
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 |
|
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'- TCTGGCAATATCAGTCATCAGC -3'
(R):5'- CTGTCCACCAGAGATCTCATGG -3'
Sequencing Primer
(F):5'- AGTCATCAGCTCTCCCAGG -3'
(R):5'- ACCAGAGATCTCATGGTTTCCAG -3'
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| Posted On |
2022-04-18 |
Incidental Mutation