Incidental Mutation 'R4797:Spata31'
| ID |
369160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
042421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R4797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 65070556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 901
(Y901*)
|
| 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: Y901*
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: Y901*
| 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 |
0.9635 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
| Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
| Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
| Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
| Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
| Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
| Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
| Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
| Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
| Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
| Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
| Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
| Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
| Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
| Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
probably damaging |
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 |
|
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'- ATTGTCCAGAACCAACGAAGG -3'
(R):5'- AAGCTGCGTTACGGGACAAG -3'
Sequencing Primer
(F):5'- CCAGAACCAACGAAGGCAAGTG -3'
(R):5'- TTACGGGACAAGCGGCTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation