Incidental Mutation 'R6985:Spata31d1a'
| ID |
542925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1a
|
| Ensembl Gene |
ENSMUSG00000050876 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
| Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
| MMRRC Submission |
045092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59850907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 407
(N407S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066510
AA Change: N407S
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: N407S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
|
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
|
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224982
AA Change: N407S
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin1 |
A |
G |
4: 123,630,649 (GRCm39) |
*192R |
probably null |
Het |
| Ankar |
A |
C |
1: 72,697,641 (GRCm39) |
L836R |
probably damaging |
Het |
| Anxa7 |
G |
T |
14: 20,521,636 (GRCm39) |
A20E |
unknown |
Het |
| Arhgap1 |
T |
A |
2: 91,498,543 (GRCm39) |
Y147N |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,268,029 (GRCm39) |
V714A |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,031,776 (GRCm39) |
L3P |
probably damaging |
Het |
| Bhmt2 |
T |
C |
13: 93,799,830 (GRCm39) |
D202G |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,437,095 (GRCm39) |
R98G |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,146 (GRCm39) |
Y319H |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,529 (GRCm39) |
F115S |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,460,757 (GRCm39) |
N1755S |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,656,378 (GRCm39) |
N893S |
probably benign |
Het |
| Ctsh |
G |
A |
9: 89,936,657 (GRCm39) |
A19T |
possibly damaging |
Het |
| Cttn |
C |
A |
7: 144,006,324 (GRCm39) |
E214* |
probably null |
Het |
| Des |
A |
G |
1: 75,343,431 (GRCm39) |
E438G |
possibly damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,615,679 (GRCm39) |
V109A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,132 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,934 (GRCm39) |
I2184T |
probably benign |
Het |
| Enc1 |
C |
T |
13: 97,381,628 (GRCm39) |
T46I |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,896,108 (GRCm39) |
S670P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,201,460 (GRCm39) |
V1319E |
probably damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,296,957 (GRCm39) |
V302E |
probably benign |
Het |
| Fgfr3 |
G |
C |
5: 33,892,785 (GRCm39) |
E744Q |
probably null |
Het |
| Gmps |
T |
A |
3: 63,922,960 (GRCm39) |
I641N |
probably damaging |
Het |
| Gpc2 |
T |
A |
5: 138,276,670 (GRCm39) |
Y152F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,782,228 (GRCm39) |
D1305G |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,252 (GRCm39) |
T14A |
probably benign |
Het |
| Insr |
T |
A |
8: 3,211,372 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,154,731 (GRCm39) |
G127C |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,276,456 (GRCm39) |
N65S |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,850,738 (GRCm39) |
I1101M |
possibly damaging |
Het |
| Lrrc55 |
T |
G |
2: 85,022,274 (GRCm39) |
N306H |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,944,161 (GRCm39) |
S329P |
probably damaging |
Het |
| Mapkap1 |
T |
G |
2: 34,322,122 (GRCm39) |
H13Q |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,594 (GRCm39) |
L60S |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,817 (GRCm39) |
M626L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,444,117 (GRCm39) |
V1914I |
possibly damaging |
Het |
| Myo5b |
T |
C |
18: 74,786,432 (GRCm39) |
F442L |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,775,757 (GRCm39) |
M545K |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,531,275 (GRCm39) |
V645E |
probably damaging |
Het |
| Or52z14 |
A |
G |
7: 103,252,875 (GRCm39) |
T5A |
probably benign |
Het |
| Or5af2 |
T |
C |
11: 58,707,939 (GRCm39) |
F35S |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,946,615 (GRCm39) |
Y231* |
probably null |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,211 (GRCm39) |
E2G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,223 (GRCm39) |
T178I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,214,643 (GRCm39) |
S613P |
probably damaging |
Het |
| Pon1 |
T |
G |
6: 5,168,345 (GRCm39) |
D354A |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,758,783 (GRCm39) |
I379S |
probably damaging |
Het |
| Rbm17 |
T |
G |
2: 11,595,504 (GRCm39) |
M234L |
probably benign |
Het |
| Rex1bd |
T |
C |
8: 70,958,555 (GRCm39) |
S71G |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,994,337 (GRCm39) |
I833V |
unknown |
Het |
| Slc35f1 |
C |
A |
10: 52,898,007 (GRCm39) |
D139E |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,879,429 (GRCm39) |
I36F |
probably benign |
Het |
| Sstr4 |
T |
A |
2: 148,238,169 (GRCm39) |
M260K |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trat1 |
A |
G |
16: 48,574,634 (GRCm39) |
Y55H |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,828,075 (GRCm39) |
T3124A |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,821,074 (GRCm39) |
F1385Y |
possibly damaging |
Het |
| Xrcc3 |
T |
C |
12: 111,778,530 (GRCm39) |
D7G |
probably damaging |
Het |
|
| Other mutations in Spata31d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Spata31d1a
|
UTSW |
13 |
59,848,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
|
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8379:Spata31d1a
|
UTSW |
13 |
59,850,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTCACTCTCAGGCAAGG -3'
(R):5'- CTCTTCACGAAGCAAGAGGAAG -3'
Sequencing Primer
(F):5'- CACTCTCAGGCAAGGGCAGAG -3'
(R):5'- GCTGATGGCACTGTGTATAAAC -3'
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| Posted On |
2018-11-28 |
Incidental Mutation