Incidental Mutation 'R7545:Spata31'
| ID |
584183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
045650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 65070359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 836
(R836*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070216]
[ENSMUST00000221202]
|
| AlphaFold |
E9QAF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070216
AA Change: R836*
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: R836*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
| A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
| Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
| Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
| Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
| Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
| Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,322,359 (GRCm39) |
K1269E |
possibly damaging |
Het |
| Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
| Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
| Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
| Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
| Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
| Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
| Myt1l |
G |
A |
12: 29,877,087 (GRCm39) |
R246Q |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
| Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
| Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,959,766 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
| Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,020,339 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
| Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
| Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
| Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
| Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
| Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
| Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
| Urb2 |
T |
C |
8: 124,756,491 (GRCm39) |
S733P |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
| Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
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 |
|
R1656:Spata31
|
UTSW |
13 |
65,068,953 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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'- AACTTTGGCAGCCAATACTACCAG -3'
(R):5'- AACTGGGTGCTCTCCTTTGC -3'
Sequencing Primer
(F):5'- GCCAATACTACCAGACCCTTC -3'
(R):5'- CTCTCCTTTGCTGTAAGTAGGAGAC -3'
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| Posted On |
2019-10-17 |
Incidental Mutation