Incidental Mutation 'R7607:Spata31'
| ID |
588393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
045677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R7607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 65069406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 518
(L518R)
|
| 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: L518R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: L518R
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
T |
11: 70,128,383 (GRCm39) |
H30Q |
probably damaging |
Het |
| A930009A15Rik |
G |
A |
10: 115,417,894 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
C |
10: 79,847,667 (GRCm39) |
L1779P |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,997,325 (GRCm39) |
V1140I |
possibly damaging |
Het |
| Ano2 |
C |
T |
6: 125,689,382 (GRCm39) |
A169V |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,219,999 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,255 (GRCm39) |
|
probably null |
Het |
| Atp7b |
T |
G |
8: 22,501,522 (GRCm39) |
K912T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,246 (GRCm39) |
V112A |
possibly damaging |
Het |
| Cfap107 |
T |
A |
4: 144,146,332 (GRCm39) |
H107L |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,926,201 (GRCm39) |
N1119S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,968,331 (GRCm39) |
Q3099K |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,791 (GRCm39) |
V381A |
possibly damaging |
Het |
| Dctn1 |
C |
T |
6: 83,172,051 (GRCm39) |
R948* |
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,449 (GRCm39) |
V78A |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,544,200 (GRCm39) |
T650A |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,966,391 (GRCm39) |
K194N |
possibly damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,534,581 (GRCm39) |
W1809* |
probably null |
Het |
| Frmd4a |
T |
A |
2: 4,596,747 (GRCm39) |
L156* |
probably null |
Het |
| Gk5 |
A |
T |
9: 96,035,263 (GRCm39) |
|
probably null |
Het |
| Gm3573 |
A |
G |
14: 42,011,707 (GRCm39) |
F8L |
probably benign |
Het |
| Gm9767 |
G |
A |
10: 25,954,838 (GRCm39) |
C130Y |
unknown |
Het |
| Grip2 |
T |
C |
6: 91,765,393 (GRCm39) |
T30A |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,156 (GRCm39) |
A65E |
possibly damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,266,493 (GRCm39) |
R259G |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,656,626 (GRCm39) |
I244F |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,775,151 (GRCm39) |
V357L |
possibly damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igdcc4 |
C |
T |
9: 65,041,040 (GRCm39) |
P1024S |
possibly damaging |
Het |
| Ino80 |
A |
T |
2: 119,212,750 (GRCm39) |
|
probably null |
Het |
| Knl1 |
T |
C |
2: 118,925,614 (GRCm39) |
F1881S |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,121,099 (GRCm39) |
E518G |
unknown |
Het |
| Mlh1 |
A |
G |
9: 111,058,958 (GRCm39) |
S689P |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,120,897 (GRCm39) |
I589T |
possibly damaging |
Het |
| Mtmr12 |
C |
T |
15: 12,257,794 (GRCm39) |
Q291* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,222,035 (GRCm39) |
I33F |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,715,184 (GRCm39) |
P504L |
probably benign |
Het |
| Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,889,091 (GRCm39) |
S7560R |
unknown |
Het |
| Or1m1 |
A |
G |
9: 18,666,178 (GRCm39) |
F251S |
possibly damaging |
Het |
| Or52z12 |
A |
C |
7: 103,234,137 (GRCm39) |
T303P |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,127,613 (GRCm39) |
T391A |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,119,457 (GRCm39) |
H19L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,513,196 (GRCm39) |
A165E |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,890,005 (GRCm39) |
S75P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,388,708 (GRCm39) |
E128G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,492,368 (GRCm39) |
I420T |
probably damaging |
Het |
| Radil |
A |
T |
5: 142,480,550 (GRCm39) |
M635K |
probably damaging |
Het |
| Rnase11 |
G |
A |
14: 51,287,029 (GRCm39) |
T175I |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,360,626 (GRCm39) |
P13S |
|
Het |
| Slc18a2 |
C |
A |
19: 59,272,790 (GRCm39) |
A364D |
probably benign |
Het |
| Snph |
C |
T |
2: 151,436,506 (GRCm39) |
D141N |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,041,688 (GRCm39) |
K70R |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,997 (GRCm39) |
D24G |
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,736,773 (GRCm39) |
D165E |
possibly damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,404,296 (GRCm39) |
E2G |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,466,661 (GRCm39) |
V4059M |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,163,941 (GRCm39) |
R87G |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,475,866 (GRCm39) |
T40A |
unknown |
Het |
| Terb2 |
G |
T |
2: 122,016,956 (GRCm39) |
G26W |
probably damaging |
Het |
| Tmem62 |
T |
C |
2: 120,826,921 (GRCm39) |
I406T |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,772,458 (GRCm39) |
V582I |
probably benign |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,576,817 (GRCm39) |
D1480G |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn1r48 |
C |
A |
6: 90,012,962 (GRCm39) |
V288L |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,321,506 (GRCm39) |
V397A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,287,570 (GRCm39) |
N468D |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,303,688 (GRCm39) |
T1432K |
possibly damaging |
Het |
| Zswim5 |
T |
A |
4: 116,843,939 (GRCm39) |
D992E |
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 |
|
|
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 |
|
|
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'- ATGCGACAATCCTGGCTTGC -3'
(R):5'- CAAAGGGAAGCCTTCTCCTG -3'
Sequencing Primer
(F):5'- ACAATCCTGGCTTGCTGTGG -3'
(R):5'- CTGTGGTGATGGAGAAGAATCCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation