Incidental Mutation 'IGL01129:Spata16'
ID |
50772 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spata16
|
Ensembl Gene |
ENSMUSG00000039335 |
Gene Name |
spermatogenesis associated 16 |
Synonyms |
4930503K02Rik, spermatogenesis-related protein, 4921511F01Rik, Nyd-sp12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL01129
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 26967333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047005]
[ENSMUST00000108305]
|
AlphaFold |
Q8C636 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047005
|
SMART Domains |
Protein: ENSMUSP00000043378 Gene: ENSMUSG00000039335
Domain | Start | End | E-Value | Type |
Pfam:NYD-SP12_N
|
5 |
569 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108305
|
SMART Domains |
Protein: ENSMUSP00000103941 Gene: ENSMUSG00000039335
Domain | Start | End | E-Value | Type |
Pfam:NYD-SP12_N
|
1 |
534 |
N/A |
PFAM |
|
Coding Region Coverage |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably 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 |
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 |
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 |
|
Posted On |
2013-06-21 |