Incidental Mutation 'R7273:Spata31d1b'
| ID |
565414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1b
|
| Ensembl Gene |
ENSMUSG00000091311 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1B |
| Synonyms |
Gm4934, Fam75d1b |
| MMRRC Submission |
045357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7273 (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 59865446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 865
(V865I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165133]
|
| AlphaFold |
E9QA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165133
AA Change: V865I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: V865I
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
| Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
| Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,284,467 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,151,167 (GRCm39) |
T141A |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
| Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
| Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
| Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
| Nisch |
A |
G |
14: 30,896,364 (GRCm39) |
V946A |
unknown |
Het |
| Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
| Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,417,608 (GRCm39) |
D26G |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
| Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
| Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
possibly damaging |
Het |
| Zhx2 |
C |
T |
15: 57,686,824 (GRCm39) |
A731V |
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 |
|
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'- ACCAATGGCATGTAAGGAGC -3'
(R):5'- TGGGGTTACGCTAAGGTCTC -3'
Sequencing Primer
(F):5'- CACATGCTGACGAGGCAC -3'
(R):5'- GGGTTACGCTAAGGTCTCTATCTAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation