Incidental Mutation 'R9512:Spata16'
| ID |
718220 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R9512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 26722093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 205
(E205Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047005]
[ENSMUST00000108305]
|
| AlphaFold |
Q8C636 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047005
AA Change: E205Q
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: E205Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
5 |
569 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108305
AA Change: E205Q
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: E205Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
1 |
534 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,022,963 (GRCm39) |
A33V |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Alkbh8 |
G |
T |
9: 3,367,959 (GRCm39) |
R325M |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,529,687 (GRCm39) |
S36P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,391,864 (GRCm39) |
D1745G |
probably benign |
Het |
| Bnipl |
A |
G |
3: 95,150,369 (GRCm39) |
V292A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,454,546 (GRCm39) |
A103V |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,326,535 (GRCm39) |
E576K |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,293,196 (GRCm39) |
G1372S |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,030 (GRCm39) |
E423K |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,365,449 (GRCm39) |
V213A |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,827,424 (GRCm39) |
E87G |
probably damaging |
Het |
| Foxn1 |
G |
T |
11: 78,262,035 (GRCm39) |
S111R |
|
Het |
| Fyb2 |
G |
A |
4: 104,853,100 (GRCm39) |
R564Q |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,867,445 (GRCm39) |
I327V |
probably benign |
Het |
| Hsdl2 |
A |
T |
4: 59,594,464 (GRCm39) |
R117* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,613,301 (GRCm39) |
L463P |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Meiosin |
T |
A |
7: 18,838,860 (GRCm39) |
T156S |
unknown |
Het |
| Mroh4 |
C |
A |
15: 74,485,095 (GRCm39) |
R539L |
probably benign |
Het |
| Nln |
A |
T |
13: 104,198,274 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,179,010 (GRCm39) |
F309L |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,117,969 (GRCm39) |
T160A |
possibly damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,721 (GRCm39) |
L28P |
possibly damaging |
Het |
| Or9s14 |
T |
C |
1: 92,535,990 (GRCm39) |
C144R |
probably benign |
Het |
| Orc6 |
T |
A |
8: 86,029,522 (GRCm39) |
I98N |
|
Het |
| Pcdha8 |
A |
C |
18: 37,126,624 (GRCm39) |
I369L |
possibly damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,673 (GRCm39) |
T655M |
probably damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,320,502 (GRCm39) |
T66A |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,113,681 (GRCm39) |
E728D |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,115,364 (GRCm39) |
V829A |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,306,154 (GRCm39) |
K46R |
possibly damaging |
Het |
| Slc25a51 |
T |
C |
4: 45,399,360 (GRCm39) |
I277V |
probably benign |
Het |
| Slc9a2 |
T |
G |
1: 40,721,258 (GRCm39) |
D75E |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,252 (GRCm39) |
Y292C |
probably damaging |
Het |
| Snap91 |
T |
G |
9: 86,665,392 (GRCm39) |
T667P |
unknown |
Het |
| Stard6 |
G |
A |
18: 70,633,601 (GRCm39) |
V203I |
probably benign |
Het |
| Stra8 |
G |
A |
6: 34,909,988 (GRCm39) |
A137T |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,382 (GRCm39) |
T92A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,160 (GRCm39) |
N4174S |
probably damaging |
Het |
| Vmn1r232 |
A |
C |
17: 21,134,416 (GRCm39) |
S61R |
probably damaging |
Het |
| Zfp263 |
T |
C |
16: 3,564,306 (GRCm39) |
S199P |
probably damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,936 (GRCm39) |
C735Y |
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 |
|
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 |
|
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 |
|
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'- CAGCCTAACATGTGCCTTGG -3'
(R):5'- TCCTTCTGGGTTTACAAGCAG -3'
Sequencing Primer
(F):5'- TTGGGCTTCAGGCAACAG -3'
(R):5'- GGCATGGTAATCTACTGGACCATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation