Incidental Mutation 'R1933:Spata31'
| ID |
215607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
039951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1933 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65068424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 191
(S191P)
|
| 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: S191P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: S191P
| 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
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,207,922 (GRCm39) |
Y396F |
probably benign |
Het |
| Adra2a |
T |
A |
19: 54,034,837 (GRCm39) |
F64L |
probably damaging |
Het |
| Ankrd45 |
A |
T |
1: 160,978,870 (GRCm39) |
N103I |
probably damaging |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Bsn |
A |
G |
9: 107,993,643 (GRCm39) |
V703A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,950,357 (GRCm39) |
I529K |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,396,287 (GRCm39) |
N726S |
probably damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,006,044 (GRCm39) |
S71T |
probably damaging |
Het |
| Cct5 |
G |
T |
15: 31,591,154 (GRCm39) |
Q516K |
probably benign |
Het |
| Cd300c2 |
A |
T |
11: 114,891,685 (GRCm39) |
V63E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,595 (GRCm39) |
V7A |
possibly damaging |
Het |
| Clec16a |
T |
C |
16: 10,506,403 (GRCm39) |
F710L |
probably damaging |
Het |
| Clpb |
T |
G |
7: 101,428,418 (GRCm39) |
F393V |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,376 (GRCm39) |
R187H |
probably damaging |
Het |
| Crx |
T |
A |
7: 15,602,301 (GRCm39) |
K126* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,001,483 (GRCm39) |
Y264N |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,455,650 (GRCm39) |
I791N |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,345,683 (GRCm39) |
D456E |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,394,414 (GRCm39) |
S1963P |
probably benign |
Het |
| Efl1 |
C |
T |
7: 82,412,325 (GRCm39) |
Q905* |
probably null |
Het |
| Farsa |
T |
C |
8: 85,587,780 (GRCm39) |
F104L |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,350,101 (GRCm39) |
A231E |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,310,718 (GRCm39) |
N401K |
probably benign |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,339,519 (GRCm39) |
N604S |
probably benign |
Het |
| Gad1 |
T |
G |
2: 70,417,736 (GRCm39) |
C312G |
possibly damaging |
Het |
| Garem2 |
G |
T |
5: 30,319,860 (GRCm39) |
E441* |
probably null |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,022,475 (GRCm38) |
M8K |
probably benign |
Het |
| Gpr162 |
G |
A |
6: 124,838,410 (GRCm39) |
S80F |
probably damaging |
Het |
| Grpr |
C |
A |
X: 162,332,137 (GRCm39) |
V53L |
probably benign |
Het |
| Il21 |
C |
T |
3: 37,286,635 (GRCm39) |
R27H |
probably benign |
Het |
| Il21r |
C |
T |
7: 125,228,153 (GRCm39) |
T208I |
possibly damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,520,323 (GRCm39) |
T6A |
possibly damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,207 (GRCm39) |
Q20L |
possibly damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,949 (GRCm39) |
|
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,292 (GRCm39) |
F292L |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,011 (GRCm39) |
K490* |
probably null |
Het |
| Myh14 |
C |
T |
7: 44,264,772 (GRCm39) |
M1671I |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,380,103 (GRCm39) |
M757K |
probably damaging |
Het |
| Or51m1 |
G |
T |
7: 103,578,337 (GRCm39) |
M102I |
probably damaging |
Het |
| Or56b1b |
A |
C |
7: 108,164,730 (GRCm39) |
F91V |
possibly damaging |
Het |
| Or5aq1 |
T |
A |
2: 86,966,188 (GRCm39) |
H159L |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,404,280 (GRCm39) |
H2303L |
possibly damaging |
Het |
| Podxl2 |
C |
T |
6: 88,826,587 (GRCm39) |
V240M |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,485,434 (GRCm39) |
*553W |
probably null |
Het |
| Psma3 |
T |
A |
12: 71,031,468 (GRCm39) |
M43K |
probably benign |
Het |
| Rad50 |
G |
T |
11: 53,570,888 (GRCm39) |
T790K |
probably benign |
Het |
| Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
| Rpn1 |
T |
A |
6: 88,070,841 (GRCm39) |
V237E |
probably damaging |
Het |
| Scn10a |
T |
A |
9: 119,439,064 (GRCm39) |
M1601L |
probably damaging |
Het |
| Sema4f |
G |
T |
6: 82,907,908 (GRCm39) |
P180Q |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,851 (GRCm39) |
E8G |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,469,861 (GRCm39) |
V167I |
possibly damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,109,262 (GRCm39) |
V367M |
probably damaging |
Het |
| Srbd1 |
A |
G |
17: 86,410,321 (GRCm39) |
V537A |
probably damaging |
Het |
| Srgap1 |
G |
T |
10: 121,761,808 (GRCm39) |
D113E |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,310,214 (GRCm39) |
I505T |
probably damaging |
Het |
| St14 |
G |
A |
9: 31,017,508 (GRCm39) |
T226I |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,529,137 (GRCm39) |
I1798N |
possibly damaging |
Het |
| Sugp1 |
A |
G |
8: 70,509,225 (GRCm39) |
E166G |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,351,695 (GRCm39) |
N455K |
possibly damaging |
Het |
| Sytl3 |
T |
A |
17: 7,000,445 (GRCm39) |
V205E |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,533 (GRCm39) |
Y2183C |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tlcd3b |
T |
A |
7: 126,426,844 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
T |
G |
5: 65,082,781 (GRCm39) |
T599P |
possibly damaging |
Het |
| Trpc6 |
G |
A |
9: 8,656,546 (GRCm39) |
D658N |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,150,957 (GRCm39) |
V546A |
possibly damaging |
Het |
| Ube3c |
T |
C |
5: 29,824,657 (GRCm39) |
Y561H |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,284,405 (GRCm39) |
S42T |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,771,190 (GRCm39) |
V392A |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,855,301 (GRCm39) |
E771G |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
| Wnt5a |
C |
T |
14: 28,233,802 (GRCm39) |
P10L |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,312,695 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,816,903 (GRCm39) |
K132R |
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 |
|
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'- GGACACCATTTGAACTCTTTAGGG -3'
(R):5'- AGCTGGGGTCTGGAATTCAAG -3'
Sequencing Primer
(F):5'- TCATCAAGTGCTAAACAAGACAG -3'
(R):5'- GGTCTGGAATTCAAGTGGAGAC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation