Incidental Mutation 'R7086:Spata31'
| ID |
549913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
045180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R7086 (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 A
at 65070043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 730
(S730R)
|
| 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: S730R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: S730R
| 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: 99.1%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,068,635 (GRCm39) |
H28R |
probably damaging |
Het |
| Adgre4 |
T |
C |
17: 56,127,649 (GRCm39) |
I563T |
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,597,746 (GRCm39) |
C75S |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,787,873 (GRCm39) |
V299I |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,718,536 (GRCm39) |
C1442S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,169,881 (GRCm39) |
D399G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,554,414 (GRCm39) |
Y666N |
probably damaging |
Het |
| Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
| Cfap91 |
A |
T |
16: 38,127,219 (GRCm39) |
F512L |
possibly damaging |
Het |
| Chrng |
C |
A |
1: 87,138,735 (GRCm39) |
R455S |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,402 (GRCm39) |
H151R |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,558,166 (GRCm39) |
H1155Q |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,946,773 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
G |
A |
17: 29,378,051 (GRCm39) |
P576L |
unknown |
Het |
| Crocc |
C |
A |
4: 140,774,368 (GRCm39) |
V144L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,324,669 (GRCm39) |
V2781A |
probably damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,355 (GRCm39) |
F326L |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,395,333 (GRCm39) |
|
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,124,781 (GRCm39) |
I1083T |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,789,285 (GRCm39) |
R3303G |
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,357,739 (GRCm39) |
R3191S |
probably benign |
Het |
| Fgfbp3 |
T |
G |
19: 36,896,103 (GRCm39) |
S172R |
possibly damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,386 (GRCm39) |
V829I |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,759,750 (GRCm39) |
D647G |
probably damaging |
Het |
| H2-Q7 |
T |
A |
17: 35,658,461 (GRCm39) |
V33E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
| Kcnip1 |
G |
T |
11: 33,584,629 (GRCm39) |
P175T |
probably damaging |
Het |
| Klhl10 |
T |
C |
11: 100,347,768 (GRCm39) |
V608A |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,275,664 (GRCm39) |
Y80H |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,956,988 (GRCm39) |
|
probably null |
Het |
| Lst1 |
G |
A |
17: 35,404,262 (GRCm39) |
H59Y |
probably damaging |
Het |
| Mphosph8 |
G |
C |
14: 56,905,980 (GRCm39) |
V58L |
possibly damaging |
Het |
| Mpnd |
C |
A |
17: 56,316,457 (GRCm39) |
S45R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,453 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
A |
G |
7: 140,046,341 (GRCm39) |
T76A |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,594 (GRCm39) |
I107V |
probably benign |
Het |
| Phox2a |
A |
G |
7: 101,467,718 (GRCm39) |
Y5C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,704,317 (GRCm39) |
S540P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,767 (GRCm39) |
M1133V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,667,297 (GRCm39) |
M1126V |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,225,186 (GRCm39) |
Y96C |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,368,109 (GRCm39) |
T234A |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,570,409 (GRCm39) |
V668A |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,353 (GRCm39) |
S712P |
probably benign |
Het |
| Rcc2 |
T |
C |
4: 140,435,280 (GRCm39) |
C100R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,589,753 (GRCm39) |
G764V |
unknown |
Het |
| Rlbp1 |
A |
G |
7: 79,029,813 (GRCm39) |
I140T |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,667,794 (GRCm39) |
T261A |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,254,924 (GRCm39) |
S65P |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,690 (GRCm39) |
V920A |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,027,050 (GRCm39) |
A841V |
probably damaging |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,265 (GRCm39) |
S273G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,969,364 (GRCm39) |
V371A |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,044 (GRCm39) |
V103I |
possibly damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,333,178 (GRCm39) |
T24K |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,923,434 (GRCm39) |
G60D |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,287,185 (GRCm39) |
T335I |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,873 (GRCm39) |
I300N |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,741,056 (GRCm39) |
K403R |
probably 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 |
|
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'- TTGGAGGCATACAAACATCAGG -3'
(R):5'- TTCCTGGAAGCACTTGTGC -3'
Sequencing Primer
(F):5'- GGAAAAAGTTGTTAGTGAGTTTCCAC -3'
(R):5'- AAGCACTTGTGCGATTTTTGGAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation