Incidental Mutation 'R3148:Spata16'
ID |
264314 |
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 |
040600-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R3148 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 26932861 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
Prrx1 |
T |
C |
1: 163,085,417 (GRCm39) |
D171G |
probably benign |
Het |
Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
T |
A |
1: 106,809,555 (GRCm39) |
H320Q |
probably damaging |
Het |
Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
Tcerg1l |
G |
T |
7: 137,861,596 (GRCm39) |
Q378K |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
probably benign |
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 |
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 |
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'- AAGTGCTATGCTATTACTGCTGC -3'
(R):5'- AAGCCTAAAATTGTGAGCACAC -3'
Sequencing Primer
(F):5'- CTATGCTATTACTGCTGCTAAGTG -3'
(R):5'- GTGAGCACACAAGGCATATTG -3'
|
Posted On |
2015-02-05 |