Incidental Mutation 'PIT4366001:Spata31'
ID |
554788 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31
|
Ensembl Gene |
ENSMUSG00000056223 |
Gene Name |
spermatogenesis associated 31 |
Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
PIT4366001 (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 A
at 65069319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 489
(S489*)
|
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: S489*
|
SMART Domains |
Protein: ENSMUSP00000097025 Gene: ENSMUSG00000056223 AA Change: S489*
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: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
A |
11: 119,901,786 (GRCm39) |
S870I |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,244,962 (GRCm39) |
V2275A |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,899,833 (GRCm39) |
K278R |
probably damaging |
Het |
Adcy2 |
TA |
TAA |
13: 68,858,109 (GRCm39) |
|
probably benign |
Het |
Add3 |
C |
T |
19: 53,205,298 (GRCm39) |
P16L |
unknown |
Het |
Akap9 |
T |
A |
5: 4,096,221 (GRCm39) |
D2365E |
probably benign |
Het |
Asah1 |
A |
G |
8: 41,796,783 (GRCm39) |
S300P |
possibly damaging |
Het |
Astn1 |
A |
T |
1: 158,424,779 (GRCm39) |
H655L |
probably benign |
Het |
Astn1 |
A |
T |
1: 158,424,781 (GRCm39) |
I656F |
probably benign |
Het |
Bmpr1b |
T |
A |
3: 141,586,224 (GRCm39) |
T13S |
probably benign |
Het |
Camsap2 |
A |
G |
1: 136,208,055 (GRCm39) |
F478L |
|
Het |
Card10 |
G |
A |
15: 78,671,631 (GRCm39) |
S611L |
probably benign |
Het |
Cep68 |
T |
C |
11: 20,190,007 (GRCm39) |
N335S |
probably benign |
Het |
Chac1 |
T |
C |
2: 119,181,986 (GRCm39) |
W35R |
probably damaging |
Het |
Cntn6 |
T |
C |
6: 104,809,498 (GRCm39) |
V511A |
probably benign |
Het |
Cpne9 |
G |
T |
6: 113,271,707 (GRCm39) |
G356W |
probably damaging |
Het |
Dnah10 |
C |
A |
5: 124,852,588 (GRCm39) |
T1939K |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,573,438 (GRCm39) |
N239D |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,062,123 (GRCm39) |
K415R |
possibly damaging |
Het |
Dtd2 |
C |
A |
12: 52,046,582 (GRCm39) |
D86Y |
probably damaging |
Het |
Efcab9 |
A |
G |
11: 32,473,608 (GRCm39) |
F127S |
probably damaging |
Het |
Ermp1 |
T |
C |
19: 29,606,189 (GRCm39) |
H375R |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,560,622 (GRCm39) |
M1295K |
probably damaging |
Het |
Gbp7 |
T |
G |
3: 142,248,712 (GRCm39) |
I325R |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,227,677 (GRCm39) |
K1493E |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,226,214 (GRCm39) |
E234V |
probably null |
Het |
Itpr1 |
T |
A |
6: 108,470,718 (GRCm39) |
C2215* |
probably null |
Het |
Ltn1 |
G |
A |
16: 87,177,728 (GRCm39) |
R1634* |
probably null |
Het |
Lynx1 |
A |
T |
15: 74,623,258 (GRCm39) |
M58K |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,410,684 (GRCm39) |
V484A |
probably benign |
Het |
Map3k9 |
C |
T |
12: 81,819,535 (GRCm39) |
V240M |
possibly damaging |
Het |
Mars1 |
A |
G |
10: 127,135,267 (GRCm39) |
M608T |
possibly damaging |
Het |
Mc2r |
T |
C |
18: 68,540,826 (GRCm39) |
M156V |
probably benign |
Het |
Mchr1 |
G |
T |
15: 81,121,417 (GRCm39) |
V56L |
probably benign |
Het |
Mlxip |
C |
T |
5: 123,533,173 (GRCm39) |
P61S |
probably benign |
Het |
Mtarc1 |
A |
G |
1: 184,539,383 (GRCm39) |
F96S |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,575,542 (GRCm39) |
T1557A |
unknown |
Het |
Myt1 |
T |
C |
2: 181,467,731 (GRCm39) |
V1135A |
probably damaging |
Het |
Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm39) |
S76T |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,208,149 (GRCm39) |
Y665C |
probably damaging |
Het |
Oaz3 |
T |
G |
3: 94,340,901 (GRCm39) |
R215S |
unknown |
Het |
Or10x1 |
T |
C |
1: 174,196,656 (GRCm39) |
Y58H |
probably damaging |
Het |
Or5m10b |
T |
C |
2: 85,699,226 (GRCm39) |
C97R |
probably damaging |
Het |
Or5m8 |
A |
T |
2: 85,822,385 (GRCm39) |
N75Y |
probably damaging |
Het |
Or5w1b |
C |
T |
2: 87,475,534 (GRCm39) |
W311* |
probably null |
Het |
Perm1 |
G |
T |
4: 156,303,192 (GRCm39) |
V579L |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,788 (GRCm39) |
V140A |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,842 (GRCm39) |
S228T |
probably damaging |
Het |
Plekhn1 |
T |
G |
4: 156,309,268 (GRCm39) |
T213P |
probably damaging |
Het |
Pomt2 |
A |
T |
12: 87,163,303 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
A |
G |
5: 145,088,145 (GRCm39) |
V622A |
probably benign |
Het |
Ptn |
T |
A |
6: 36,718,284 (GRCm39) |
H127L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,462,015 (GRCm39) |
M1193L |
probably benign |
Het |
Ptpru |
G |
A |
4: 131,527,023 (GRCm39) |
P650S |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,783,390 (GRCm39) |
L613Q |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,582,446 (GRCm39) |
T1458A |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,810,462 (GRCm39) |
A470V |
probably benign |
Het |
Sertad2 |
C |
A |
11: 20,598,116 (GRCm39) |
P104Q |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,814,414 (GRCm39) |
M324L |
unknown |
Het |
Sh3bp4 |
A |
G |
1: 89,073,156 (GRCm39) |
N668S |
probably benign |
Het |
Snx30 |
C |
A |
4: 59,894,653 (GRCm39) |
D410E |
probably benign |
Het |
Taok3 |
T |
A |
5: 117,366,050 (GRCm39) |
M367K |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,850 (GRCm39) |
N254D |
possibly damaging |
Het |
Tgtp1 |
T |
G |
11: 48,877,867 (GRCm39) |
L279F |
possibly damaging |
Het |
Tmpo |
A |
G |
10: 90,999,172 (GRCm39) |
F205S |
probably damaging |
Het |
Tmprss5 |
A |
T |
9: 49,023,517 (GRCm39) |
I218L |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,641,224 (GRCm39) |
E116G |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,205 (GRCm39) |
N402K |
possibly 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 |
|
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 |
|
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'- AGATCCAATCAGGGGCTTGG -3'
(R):5'- CCTATGTACAGAAGTGGTTGAGGAG -3'
Sequencing Primer
(F):5'- CCCTCTAAGTATGCGACA -3'
(R):5'- TGAGGAGGTCTGGGCAC -3'
|
Posted On |
2019-06-07 |