Incidental Mutation 'R1656:Spata31'
| ID |
189131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
039692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R1656 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65068953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 367
(E367G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070216]
[ENSMUST00000221202]
|
| AlphaFold |
E9QAF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070216
AA Change: E367G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: E367G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
149 |
431 |
1.7e-83 |
PFAM |
|
Pfam:FAM75
|
426 |
462 |
4.5e-9 |
PFAM |
|
low complexity region
|
478 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221202
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
96% (79/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
A |
T |
14: 32,099,901 (GRCm39) |
I42N |
possibly damaging |
Het |
| Adarb2 |
T |
A |
13: 8,253,287 (GRCm39) |
S11T |
unknown |
Het |
| Adgrg1 |
C |
T |
8: 95,738,438 (GRCm39) |
Q644* |
probably null |
Het |
| Akr1c18 |
T |
G |
13: 4,195,252 (GRCm39) |
I69L |
probably benign |
Het |
| Anxa9 |
C |
T |
3: 95,207,884 (GRCm39) |
V219I |
probably benign |
Het |
| Aqp9 |
T |
C |
9: 71,045,385 (GRCm39) |
T101A |
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,613,057 (GRCm39) |
R251W |
probably damaging |
Het |
| Arl13b |
T |
A |
16: 62,627,007 (GRCm39) |
E231D |
possibly damaging |
Het |
| Atosa |
C |
T |
9: 74,916,241 (GRCm39) |
A280V |
probably benign |
Het |
| Bcl2l11 |
C |
T |
2: 128,000,176 (GRCm39) |
A173V |
probably benign |
Het |
| Ccni |
A |
T |
5: 93,335,933 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,474,485 (GRCm39) |
E785G |
probably benign |
Het |
| Cdk4 |
A |
G |
10: 126,900,849 (GRCm39) |
Y167C |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,768,466 (GRCm39) |
V757G |
possibly damaging |
Het |
| Ctsc |
T |
C |
7: 87,930,616 (GRCm39) |
V65A |
possibly damaging |
Het |
| Cuedc2 |
G |
A |
19: 46,320,427 (GRCm39) |
S48L |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 43,978,510 (GRCm39) |
M4K |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,074,577 (GRCm39) |
S733G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,488 (GRCm39) |
S4017P |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,096,694 (GRCm39) |
I255T |
probably benign |
Het |
| Fam83e |
T |
C |
7: 45,371,687 (GRCm39) |
V28A |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,054,936 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,478,567 (GRCm39) |
Q2538* |
probably null |
Het |
| Fshr |
A |
G |
17: 89,508,009 (GRCm39) |
F11S |
unknown |
Het |
| Gab1 |
G |
T |
8: 81,515,388 (GRCm39) |
P310Q |
probably damaging |
Het |
| Galnt18 |
A |
G |
7: 111,215,699 (GRCm39) |
|
probably benign |
Het |
| Gm28042 |
C |
A |
2: 119,869,370 (GRCm39) |
P355Q |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,357,116 (GRCm39) |
T205A |
possibly damaging |
Het |
| Hnf4g |
A |
T |
3: 3,718,011 (GRCm39) |
D420V |
probably benign |
Het |
| Ift70b |
T |
C |
2: 75,767,760 (GRCm39) |
K331R |
probably benign |
Het |
| Il1b |
A |
G |
2: 129,207,989 (GRCm39) |
V164A |
probably damaging |
Het |
| Irf4 |
C |
A |
13: 30,941,485 (GRCm39) |
H279Q |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,409,364 (GRCm39) |
T203A |
possibly damaging |
Het |
| Lsamp |
C |
T |
16: 41,775,682 (GRCm39) |
P178S |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,277,155 (GRCm39) |
S223G |
possibly damaging |
Het |
| Misp |
G |
T |
10: 79,661,777 (GRCm39) |
V65L |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
| Myef2 |
G |
T |
2: 124,939,860 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,303,216 (GRCm39) |
I1079N |
probably damaging |
Het |
| Nisch |
G |
T |
14: 30,899,228 (GRCm39) |
|
probably benign |
Het |
| Obox7 |
T |
C |
7: 14,399,346 (GRCm39) |
S191P |
probably benign |
Het |
| Or11h7 |
T |
C |
14: 50,891,465 (GRCm39) |
V257A |
probably benign |
Het |
| Or13p10 |
A |
G |
4: 118,523,385 (GRCm39) |
I224V |
probably damaging |
Het |
| Or14c40 |
C |
T |
7: 86,313,331 (GRCm39) |
L154F |
probably benign |
Het |
| Or1j11 |
G |
A |
2: 36,311,658 (GRCm39) |
V83M |
probably benign |
Het |
| Or5w14 |
A |
T |
2: 87,541,422 (GRCm39) |
V276D |
possibly damaging |
Het |
| Or7d9 |
A |
G |
9: 20,197,873 (GRCm39) |
R301G |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,333 (GRCm39) |
S492P |
possibly damaging |
Het |
| Phyh |
A |
T |
2: 4,943,164 (GRCm39) |
N337I |
probably damaging |
Het |
| Poteg |
A |
T |
8: 27,985,060 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
G |
T |
8: 36,571,500 (GRCm39) |
K694N |
probably damaging |
Het |
| Proser2 |
C |
T |
2: 6,107,870 (GRCm39) |
E49K |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,656,389 (GRCm39) |
V355A |
possibly damaging |
Het |
| Psmc2 |
T |
C |
5: 22,004,549 (GRCm39) |
V182A |
possibly damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,124,333 (GRCm39) |
|
probably benign |
Het |
| Slc26a7 |
A |
T |
4: 14,621,221 (GRCm39) |
I55K |
possibly damaging |
Het |
| Slc5a8 |
G |
A |
10: 88,761,648 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
C |
3: 72,957,672 (GRCm39) |
R367G |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
A |
T |
5: 135,863,892 (GRCm39) |
|
probably null |
Het |
| Ssmem1 |
T |
C |
6: 30,517,507 (GRCm39) |
S6P |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,821,034 (GRCm39) |
D6G |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,776 (GRCm39) |
E295G |
probably damaging |
Het |
| Tap2 |
A |
T |
17: 34,424,927 (GRCm39) |
I192F |
possibly damaging |
Het |
| Tgoln1 |
C |
T |
6: 72,591,068 (GRCm39) |
R348H |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,134,389 (GRCm39) |
V1373I |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,089,854 (GRCm39) |
D613G |
possibly damaging |
Het |
| Tmem62 |
T |
A |
2: 120,837,483 (GRCm39) |
Y597N |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,084,185 (GRCm39) |
T272S |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,372,198 (GRCm39) |
S3P |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,089,313 (GRCm39) |
I627N |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,478,076 (GRCm39) |
S3564P |
probably damaging |
Het |
| Zfp467 |
T |
G |
6: 48,416,013 (GRCm39) |
E213A |
possibly damaging |
Het |
| Zfp746 |
T |
G |
6: 48,041,411 (GRCm39) |
K437N |
probably damaging |
Het |
| Zfp853 |
A |
G |
5: 143,274,840 (GRCm39) |
|
probably benign |
Het |
| Zranb1 |
T |
A |
7: 132,551,496 (GRCm39) |
V49D |
probably benign |
Het |
|
| Other mutations in Spata31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Spata31
|
APN |
13 |
65,070,602 (GRCm39) |
nonsense |
probably null |
|
|
IGL01143:Spata31
|
APN |
13 |
65,068,630 (GRCm39) |
nonsense |
probably null |
|
|
IGL01321:Spata31
|
APN |
13 |
65,069,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Spata31
|
APN |
13 |
65,069,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01844:Spata31
|
APN |
13 |
65,068,968 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02259:Spata31
|
APN |
13 |
65,069,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02358:Spata31
|
APN |
13 |
65,069,032 (GRCm39) |
missense |
probably benign |
|
|
IGL02377:Spata31
|
APN |
13 |
65,068,194 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02723:Spata31
|
APN |
13 |
65,068,463 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03125:Spata31
|
APN |
13 |
65,068,703 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03343:Spata31
|
APN |
13 |
65,067,587 (GRCm39) |
missense |
probably benign |
0.41 |
|
BB006:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
|
BB016:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
|
F5770:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02991:Spata31
|
UTSW |
13 |
65,068,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
P0043:Spata31
|
UTSW |
13 |
65,068,820 (GRCm39) |
splice site |
probably null |
|
|
PIT4366001:Spata31
|
UTSW |
13 |
65,069,319 (GRCm39) |
nonsense |
probably null |
|
|
PIT4458001:Spata31
|
UTSW |
13 |
65,069,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4687001:Spata31
|
UTSW |
13 |
65,069,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0042:Spata31
|
UTSW |
13 |
65,070,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0042:Spata31
|
UTSW |
13 |
65,070,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Spata31
|
UTSW |
13 |
65,069,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Spata31
|
UTSW |
13 |
65,069,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0639:Spata31
|
UTSW |
13 |
65,070,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1253:Spata31
|
UTSW |
13 |
65,069,838 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1536:Spata31
|
UTSW |
13 |
65,069,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Spata31
|
UTSW |
13 |
65,070,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1813:Spata31
|
UTSW |
13 |
65,069,612 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1916:Spata31
|
UTSW |
13 |
65,070,359 (GRCm39) |
nonsense |
probably null |
|
|
R1917:Spata31
|
UTSW |
13 |
65,068,679 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1933:Spata31
|
UTSW |
13 |
65,068,424 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2910:Spata31
|
UTSW |
13 |
65,068,250 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3750:Spata31
|
UTSW |
13 |
65,069,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3876:Spata31
|
UTSW |
13 |
65,068,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3980:Spata31
|
UTSW |
13 |
65,070,468 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4056:Spata31
|
UTSW |
13 |
65,069,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4300:Spata31
|
UTSW |
13 |
65,067,575 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4797:Spata31
|
UTSW |
13 |
65,070,556 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Spata31
|
UTSW |
13 |
65,067,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Spata31
|
UTSW |
13 |
65,065,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5366:Spata31
|
UTSW |
13 |
65,068,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5539:Spata31
|
UTSW |
13 |
65,070,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5704:Spata31
|
UTSW |
13 |
65,069,855 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5748:Spata31
|
UTSW |
13 |
65,068,127 (GRCm39) |
makesense |
probably null |
|
|
R5834:Spata31
|
UTSW |
13 |
65,070,480 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5926:Spata31
|
UTSW |
13 |
65,068,539 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6476:Spata31
|
UTSW |
13 |
65,065,456 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6603:Spata31
|
UTSW |
13 |
65,070,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Spata31
|
UTSW |
13 |
65,067,571 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6965:Spata31
|
UTSW |
13 |
65,070,648 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7086:Spata31
|
UTSW |
13 |
65,070,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7140:Spata31
|
UTSW |
13 |
65,068,913 (GRCm39) |
missense |
probably benign |
|
|
R7396:Spata31
|
UTSW |
13 |
65,068,547 (GRCm39) |
missense |
probably benign |
|
|
R7545:Spata31
|
UTSW |
13 |
65,070,359 (GRCm39) |
nonsense |
probably null |
|
|
R7575:Spata31
|
UTSW |
13 |
65,070,726 (GRCm39) |
missense |
unknown |
|
|
R7607:Spata31
|
UTSW |
13 |
65,069,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8024:Spata31
|
UTSW |
13 |
65,070,618 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8088:Spata31
|
UTSW |
13 |
65,068,679 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8323:Spata31
|
UTSW |
13 |
65,070,065 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8362:Spata31
|
UTSW |
13 |
65,070,044 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8870:Spata31
|
UTSW |
13 |
65,068,818 (GRCm39) |
missense |
probably benign |
|
|
R9429:Spata31
|
UTSW |
13 |
65,070,336 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9465:Spata31
|
UTSW |
13 |
65,068,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Spata31
|
UTSW |
13 |
65,070,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9627:Spata31
|
UTSW |
13 |
65,065,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
V7580:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
V7581:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
V7583:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1176:Spata31
|
UTSW |
13 |
65,069,786 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Spata31
|
UTSW |
13 |
65,069,786 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGTCCAGAAACCTCAAGAAGCC -3'
(R):5'- TCTGCCCTGACTTTGTACCCAAATG -3'
Sequencing Primer
(F):5'- CAAGAAGCCTATGACATCTTGG -3'
(R):5'- GACTTTGTACCCAAATGAGCTTTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation