Incidental Mutation 'R0109:Spata16'
| ID |
64190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata16
|
| Ensembl Gene |
ENSMUSG00000039335 |
| Gene Name |
spermatogenesis associated 16 |
| Synonyms |
4930503K02Rik, spermatogenesis-related protein, 4921511F01Rik, Nyd-sp12 |
| MMRRC Submission |
038395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0109 (G1)
|
| Quality Score |
96 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26967416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 389
(F389I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047005]
[ENSMUST00000108305]
|
| AlphaFold |
Q8C636 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047005
AA Change: F389I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: F389I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
5 |
569 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108305
AA Change: F389I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: F389I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
1 |
534 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1354 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
| Col19a1 |
A |
C |
1: 24,598,849 (GRCm39) |
|
probably null |
Het |
| Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,601,878 (GRCm39) |
F101L |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,857,936 (GRCm39) |
S2077P |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
| Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
| Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
| Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,561,841 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
C |
15: 80,893,667 (GRCm39) |
D434H |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,964,314 (GRCm39) |
S634P |
possibly damaging |
Het |
| Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
| Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,555,908 (GRCm39) |
I30366F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,529,549 (GRCm39) |
Y184* |
probably null |
Het |
| Vmn2r53 |
C |
T |
7: 12,315,993 (GRCm39) |
A609T |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,349,622 (GRCm39) |
N3272K |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp454 |
T |
A |
11: 50,774,602 (GRCm39) |
T24S |
possibly damaging |
Het |
|
| Other mutations in Spata16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Spata16
|
APN |
3 |
26,978,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01017:Spata16
|
APN |
3 |
26,894,871 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01129:Spata16
|
APN |
3 |
26,967,333 (GRCm39) |
splice site |
probably benign |
|
|
IGL01330:Spata16
|
APN |
3 |
26,968,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02033:Spata16
|
APN |
3 |
26,967,483 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02069:Spata16
|
APN |
3 |
26,786,944 (GRCm39) |
nonsense |
probably null |
|
|
IGL02231:Spata16
|
APN |
3 |
26,967,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Spata16
|
UTSW |
3 |
26,721,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0109:Spata16
|
UTSW |
3 |
26,967,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0325:Spata16
|
UTSW |
3 |
26,721,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0811:Spata16
|
UTSW |
3 |
26,967,487 (GRCm39) |
splice site |
probably benign |
|
|
R2061:Spata16
|
UTSW |
3 |
26,978,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3148:Spata16
|
UTSW |
3 |
26,932,861 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4837:Spata16
|
UTSW |
3 |
26,787,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4972:Spata16
|
UTSW |
3 |
26,894,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5129:Spata16
|
UTSW |
3 |
26,721,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5235:Spata16
|
UTSW |
3 |
26,721,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5458:Spata16
|
UTSW |
3 |
26,831,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6578:Spata16
|
UTSW |
3 |
26,721,697 (GRCm39) |
nonsense |
probably null |
|
|
R7069:Spata16
|
UTSW |
3 |
26,981,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7256:Spata16
|
UTSW |
3 |
26,722,016 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7936:Spata16
|
UTSW |
3 |
26,721,572 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8015:Spata16
|
UTSW |
3 |
26,721,808 (GRCm39) |
missense |
probably benign |
|
|
R8060:Spata16
|
UTSW |
3 |
26,894,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8161:Spata16
|
UTSW |
3 |
26,894,811 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8459:Spata16
|
UTSW |
3 |
26,721,676 (GRCm39) |
missense |
probably benign |
|
|
R9215:Spata16
|
UTSW |
3 |
26,721,994 (GRCm39) |
nonsense |
probably null |
|
|
R9249:Spata16
|
UTSW |
3 |
26,787,030 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9413:Spata16
|
UTSW |
3 |
26,978,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9512:Spata16
|
UTSW |
3 |
26,722,093 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9613:Spata16
|
UTSW |
3 |
26,932,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Spata16
|
UTSW |
3 |
26,967,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Spata16
|
UTSW |
3 |
26,968,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTAAACTGGAGGAGGGACCTG -3'
(R):5'- CCCTAAAGCCTGCTGTATTGTCAATGG -3'
Sequencing Primer
(F):5'- GGGACCTGAAAATGATAAACCTG -3'
(R):5'- TTCCCATCACCTGTGTAGGT -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation