Incidental Mutation 'R5834:Spata31'
| ID |
449492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
044055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R5834 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65070480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 876
(S876L)
|
| 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: S876L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: S876L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,227,974 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,251,465 (GRCm39) |
S441A |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,557,049 (GRCm39) |
M299K |
probably damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,796 (GRCm39) |
S472P |
probably benign |
Het |
| Ank3 |
T |
G |
10: 69,658,087 (GRCm39) |
V158G |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,622,955 (GRCm39) |
D324G |
probably benign |
Het |
| Aste1 |
A |
T |
9: 105,280,614 (GRCm39) |
R448S |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,308,366 (GRCm39) |
L55Q |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,016,899 (GRCm39) |
G143D |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,208,126 (GRCm39) |
V1122A |
probably benign |
Het |
| Cbl |
T |
C |
9: 44,145,076 (GRCm39) |
H37R |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 145,971,069 (GRCm39) |
D893A |
probably benign |
Het |
| Chd2 |
T |
A |
7: 73,128,463 (GRCm39) |
I841F |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,723,792 (GRCm39) |
T622A |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,896,391 (GRCm39) |
Y1028H |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,030,511 (GRCm39) |
I448V |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,083,289 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 39,007,037 (GRCm39) |
R324* |
probably null |
Het |
| Dhx37 |
C |
A |
5: 125,502,794 (GRCm39) |
R42L |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,365,662 (GRCm39) |
V450E |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,058,313 (GRCm39) |
L330P |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,170 (GRCm39) |
H778Q |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,292,975 (GRCm39) |
I227N |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,388,766 (GRCm39) |
V326E |
probably benign |
Het |
| Gata2 |
T |
C |
6: 88,177,729 (GRCm39) |
V253A |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,138 (GRCm39) |
N397D |
probably damaging |
Het |
| Gm14401 |
C |
A |
2: 176,778,696 (GRCm39) |
H261N |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,316,389 (GRCm39) |
H243Q |
probably benign |
Het |
| Hsd3b1 |
C |
A |
3: 98,760,255 (GRCm39) |
K245N |
possibly damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,049,443 (GRCm39) |
C86S |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irs3 |
T |
A |
5: 137,642,821 (GRCm39) |
S206C |
probably damaging |
Het |
| Lefty2 |
C |
T |
1: 180,720,716 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,590,921 (GRCm39) |
I162V |
probably damaging |
Het |
| Matcap1 |
G |
A |
8: 106,008,755 (GRCm39) |
Q421* |
probably null |
Het |
| Mefv |
A |
C |
16: 3,533,910 (GRCm39) |
D120E |
probably damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,710,953 (GRCm39) |
I45V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,620,993 (GRCm39) |
N1797S |
possibly damaging |
Het |
| Nav1 |
A |
C |
1: 135,460,144 (GRCm39) |
M393R |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,391,267 (GRCm39) |
S510P |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,819,405 (GRCm39) |
T39I |
probably benign |
Het |
| Or2h1b |
A |
T |
17: 37,462,690 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,113 (GRCm39) |
H88Q |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,878,970 (GRCm39) |
S842G |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,471,706 (GRCm39) |
V10G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,053,659 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,402,189 (GRCm39) |
Y994C |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,897,943 (GRCm39) |
W37R |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,839 (GRCm39) |
D1227G |
probably damaging |
Het |
| Scoc |
C |
T |
8: 84,164,260 (GRCm39) |
D10N |
possibly damaging |
Het |
| Sdk2 |
A |
T |
11: 113,745,099 (GRCm39) |
I732N |
probably damaging |
Het |
| Six2 |
T |
C |
17: 85,995,092 (GRCm39) |
K97E |
probably damaging |
Het |
| Slit2 |
A |
C |
5: 48,416,989 (GRCm39) |
N1014H |
probably damaging |
Het |
| Smc1b |
A |
C |
15: 84,973,866 (GRCm39) |
L930R |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,154 (GRCm39) |
Y3135H |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,012,363 (GRCm39) |
|
probably null |
Het |
| Stk3 |
G |
A |
15: 34,959,164 (GRCm39) |
T336I |
probably damaging |
Het |
| Tas2r118 |
T |
A |
6: 23,969,876 (GRCm39) |
T62S |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,454,169 (GRCm39) |
M212T |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,923,971 (GRCm39) |
L738P |
probably damaging |
Het |
| Ttll8 |
A |
G |
15: 88,801,449 (GRCm39) |
V413A |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,168 (GRCm39) |
E82G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,599 (GRCm39) |
T168A |
possibly damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,765,932 (GRCm39) |
P13H |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,030,712 (GRCm39) |
L194P |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,787 (GRCm39) |
Q636* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,313,311 (GRCm39) |
Y25H |
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 |
|
|
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'- TAGGTCGCTTTCTACAGTGGATTC -3'
(R):5'- ACACTTCTCTGAGGCAGTTG -3'
Sequencing Primer
(F):5'- TCAAAGGGCATGAATTTCATCCC -3'
(R):5'- CACTTCTCTGAGGCAGTTGGTTTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation