Incidental Mutation 'BB016:Spata31'
ID |
642915 |
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 # |
BB016
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65069532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 560
(V560D)
|
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: V560D
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000097025 Gene: ENSMUSG00000056223 AA Change: V560D
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Adra1d |
G |
T |
2: 131,403,600 (GRCm39) |
C163* |
probably null |
Het |
Ak9 |
A |
G |
10: 41,259,944 (GRCm39) |
D874G |
|
Het |
Akap8 |
A |
T |
17: 32,528,419 (GRCm39) |
S498T |
probably damaging |
Het |
Alyref2 |
C |
G |
1: 171,331,407 (GRCm39) |
F61L |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,606,123 (GRCm39) |
I1172F |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,511,258 (GRCm39) |
F370I |
probably damaging |
Het |
Apip |
A |
C |
2: 102,913,366 (GRCm39) |
T41P |
probably benign |
Het |
Atg4d |
G |
A |
9: 21,178,260 (GRCm39) |
R126Q |
probably null |
Het |
Ccdc86 |
A |
G |
19: 10,926,183 (GRCm39) |
S139P |
unknown |
Het |
Ceacam16 |
A |
G |
7: 19,587,556 (GRCm39) |
L404P |
probably damaging |
Het |
Dennd3 |
G |
T |
15: 73,436,423 (GRCm39) |
V1010L |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,917,103 (GRCm39) |
S108P |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,869,554 (GRCm39) |
C238R |
probably damaging |
Het |
Ephb2 |
A |
G |
4: 136,388,195 (GRCm39) |
V635A |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gars1 |
A |
G |
6: 55,040,102 (GRCm39) |
H343R |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,769,772 (GRCm39) |
N593K |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,570,740 (GRCm39) |
N227K |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
Itprid1 |
G |
A |
6: 55,874,946 (GRCm39) |
V299M |
probably damaging |
Het |
Jak1 |
A |
T |
4: 101,011,842 (GRCm39) |
F1087I |
probably damaging |
Het |
Klf16 |
A |
G |
10: 80,412,698 (GRCm39) |
S113P |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,283,238 (GRCm39) |
E280V |
possibly damaging |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,954,843 (GRCm39) |
H1132R |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,444,572 (GRCm39) |
D1085G |
unknown |
Het |
Lrrc9 |
C |
A |
12: 72,533,071 (GRCm39) |
T980K |
possibly damaging |
Het |
Nceh1 |
A |
G |
3: 27,333,396 (GRCm39) |
D164G |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,330,498 (GRCm39) |
S633P |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,164,863 (GRCm39) |
V216A |
possibly damaging |
Het |
Odf4 |
A |
T |
11: 68,813,759 (GRCm39) |
V143D |
possibly damaging |
Het |
Or4d6 |
G |
A |
19: 12,086,118 (GRCm39) |
T38I |
unknown |
Het |
Pex12 |
A |
G |
11: 83,188,809 (GRCm39) |
I62T |
probably damaging |
Het |
Plekhg1 |
G |
A |
10: 3,869,170 (GRCm39) |
D237N |
probably damaging |
Het |
Rxrb |
T |
A |
17: 34,255,645 (GRCm39) |
D377E |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,609,680 (GRCm39) |
D4382V |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,705,181 (GRCm39) |
K2862* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,664,533 (GRCm39) |
L1606P |
probably benign |
Het |
Samd3 |
A |
G |
10: 26,127,813 (GRCm39) |
K270R |
probably damaging |
Het |
Slc2a5 |
C |
A |
4: 150,223,942 (GRCm39) |
F211L |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,393,138 (GRCm39) |
C471R |
probably benign |
Het |
Tbx20 |
A |
T |
9: 24,637,059 (GRCm39) |
S343T |
possibly damaging |
Het |
Tesk2 |
A |
G |
4: 116,659,452 (GRCm39) |
E304G |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,118,239 (GRCm39) |
F2L |
possibly damaging |
Het |
Tle4 |
G |
T |
19: 14,495,244 (GRCm39) |
P162T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,673,816 (GRCm39) |
P11172S |
unknown |
Het |
Tulp1 |
T |
C |
17: 28,572,746 (GRCm39) |
N470S |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,174,399 (GRCm39) |
I1742M |
unknown |
Het |
Vmn2r107 |
T |
G |
17: 20,565,706 (GRCm39) |
I7S |
probably null |
Het |
Vmn2r91 |
T |
G |
17: 18,327,906 (GRCm39) |
I500R |
probably damaging |
Het |
Xpnpep3 |
A |
G |
15: 81,311,626 (GRCm39) |
I111V |
probably damaging |
Het |
Zp3r |
T |
A |
1: 130,519,217 (GRCm39) |
E308V |
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 |
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 |
|
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'- TGTGCTCTTCAGAGAAGCTTG -3'
(R):5'- ATATGCCCACACTCTGGTTTGG -3'
Sequencing Primer
(F):5'- GAGAAGCTTGCCTTTCTCAAAC -3'
(R):5'- CCACACTCTGGTTTGGTTGGC -3'
|
Posted On |
2020-08-01 |