Incidental Mutation 'R5366:Spata31'
ID |
429365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31
|
Ensembl Gene |
ENSMUSG00000056223 |
Gene Name |
spermatogenesis associated 31 |
Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
MMRRC Submission |
042944-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R5366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65068273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 140
(E140D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070216]
[ENSMUST00000221202]
|
AlphaFold |
E9QAF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070216
AA Change: E140D
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097025 Gene: ENSMUSG00000056223 AA Change: E140D
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,831,665 (GRCm39) |
N1229S |
possibly damaging |
Het |
Adgre1 |
G |
A |
17: 57,709,817 (GRCm39) |
C158Y |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,994,099 (GRCm39) |
S5128T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,542,841 (GRCm39) |
C322* |
probably null |
Het |
Ano1 |
T |
A |
7: 144,207,946 (GRCm39) |
T113S |
possibly damaging |
Het |
Apeh |
A |
T |
9: 107,969,005 (GRCm39) |
S321T |
probably benign |
Het |
Atg4d |
T |
A |
9: 21,179,948 (GRCm39) |
V273D |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,279 (GRCm39) |
D489G |
probably damaging |
Het |
Cd47 |
T |
C |
16: 49,716,736 (GRCm39) |
F256L |
probably damaging |
Het |
Cd84 |
A |
T |
1: 171,700,872 (GRCm39) |
D211V |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,230,802 (GRCm39) |
L942P |
probably damaging |
Het |
Cfh |
A |
C |
1: 140,063,973 (GRCm39) |
C434W |
probably damaging |
Het |
Chst2 |
T |
C |
9: 95,287,518 (GRCm39) |
D276G |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Degs1 |
C |
A |
1: 182,106,927 (GRCm39) |
D111Y |
probably benign |
Het |
Dhps |
T |
A |
8: 85,801,413 (GRCm39) |
D313E |
probably damaging |
Het |
Dipk1c |
T |
A |
18: 84,748,720 (GRCm39) |
L106Q |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,815,615 (GRCm39) |
C1645R |
probably damaging |
Het |
Efcab7 |
A |
C |
4: 99,761,931 (GRCm39) |
D407A |
possibly damaging |
Het |
Eif3a |
G |
T |
19: 60,767,971 (GRCm39) |
T189N |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,500,301 (GRCm39) |
L57M |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,867,513 (GRCm39) |
I300L |
probably benign |
Het |
Fzd8 |
T |
C |
18: 9,213,880 (GRCm39) |
S321P |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,941,713 (GRCm39) |
M657K |
possibly damaging |
Het |
Gm9920 |
T |
A |
15: 54,975,705 (GRCm39) |
|
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,697,739 (GRCm39) |
I668T |
probably damaging |
Het |
Irgc |
C |
T |
7: 24,132,851 (GRCm39) |
|
probably benign |
Het |
Jsrp1 |
G |
T |
10: 80,646,030 (GRCm39) |
S143* |
probably null |
Het |
Kctd4 |
T |
C |
14: 76,200,259 (GRCm39) |
Y77H |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,924 (GRCm39) |
I351N |
probably damaging |
Het |
Klra17 |
C |
T |
6: 129,851,858 (GRCm39) |
E5K |
possibly damaging |
Het |
Mapk8 |
A |
T |
14: 33,112,686 (GRCm39) |
V211E |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,326,725 (GRCm39) |
Y1208H |
probably benign |
Het |
Mrps16 |
A |
T |
14: 20,441,523 (GRCm39) |
S94T |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,361,287 (GRCm39) |
T1533A |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,651,518 (GRCm39) |
D287V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,971,086 (GRCm39) |
T2476A |
probably damaging |
Het |
Olfm2 |
T |
A |
9: 20,579,708 (GRCm39) |
T356S |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,823 (GRCm39) |
Y35C |
possibly damaging |
Het |
P2rx2 |
T |
A |
5: 110,489,694 (GRCm39) |
N108I |
probably damaging |
Het |
Pbx4 |
A |
T |
8: 70,322,820 (GRCm39) |
T309S |
probably benign |
Het |
Phyhip |
C |
A |
14: 70,704,295 (GRCm39) |
H171Q |
probably benign |
Het |
Pou4f3 |
A |
G |
18: 42,528,819 (GRCm39) |
E254G |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,052,899 (GRCm39) |
H845Q |
probably damaging |
Het |
Rgcc |
T |
C |
14: 79,529,123 (GRCm39) |
T111A |
probably benign |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
C |
A |
5: 113,398,905 (GRCm39) |
E722D |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,272,181 (GRCm39) |
D101E |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,211,152 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
A |
17: 24,037,678 (GRCm39) |
S1537T |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
G |
T |
14: 101,845,412 (GRCm39) |
T162K |
possibly damaging |
Het |
Tmem163 |
A |
C |
1: 127,428,042 (GRCm39) |
|
probably benign |
Het |
Tmem43 |
T |
C |
6: 91,455,240 (GRCm39) |
V72A |
probably benign |
Het |
Tmprss11c |
G |
A |
5: 86,429,993 (GRCm39) |
T24I |
possibly damaging |
Het |
Trerf1 |
A |
T |
17: 47,626,116 (GRCm39) |
|
noncoding transcript |
Het |
Trim44 |
A |
G |
2: 102,230,476 (GRCm39) |
L185P |
probably damaging |
Het |
Tspyl1 |
A |
G |
10: 34,158,341 (GRCm39) |
D22G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tyro3 |
G |
A |
2: 119,635,312 (GRCm39) |
R201Q |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,930,741 (GRCm39) |
K206N |
probably benign |
Het |
Usp17lb |
G |
T |
7: 104,489,615 (GRCm39) |
H436Q |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,971,853 (GRCm39) |
I584T |
possibly damaging |
Het |
Vrk1 |
T |
A |
12: 106,022,078 (GRCm39) |
M131K |
possibly damaging |
Het |
Wdr87-ps |
A |
C |
7: 29,232,964 (GRCm39) |
|
noncoding transcript |
Het |
Zfp827 |
A |
T |
8: 79,912,333 (GRCm39) |
K986N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,419 (GRCm39) |
M821T |
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 |
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'- TTCCAGCTTGGGGAGAATGC -3'
(R):5'- CATTGGTGACATTTTATCCTGCAG -3'
Sequencing Primer
(F):5'- CTTGGGGAGAATGCCTGAAAAAGC -3'
(R):5'- CCTGCAGTTGAATTGGATAAACAC -3'
|
Posted On |
2016-09-06 |