Incidental Mutation 'IGL02033:Spata16'
| ID |
184442 |
| 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 # |
IGL02033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 26967483 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 null
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 null
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
| Adam30 |
G |
T |
3: 98,068,787 (GRCm39) |
V79F |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
| Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
| Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
| Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
| Fbxw13 |
T |
C |
9: 109,010,484 (GRCm39) |
I385V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
| Lrrc28 |
C |
T |
7: 67,209,605 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
| Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
| Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,661,232 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
| Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
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 |
|
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 |
2014-05-07 |
Incidental Mutation