Incidental Mutation 'R8015:Spata16'
| ID |
617113 |
| 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 |
067455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R8015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
26691769-27037361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26721808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 110
(T110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047005]
[ENSMUST00000108305]
|
| AlphaFold |
Q8C636 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047005
AA Change: T110A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: T110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
5 |
569 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108305
AA Change: T110A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: T110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYD-SP12_N
|
1 |
534 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alad |
A |
G |
4: 62,430,159 (GRCm39) |
V121A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,174,688 (GRCm39) |
Y684N |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,453,245 (GRCm39) |
R808L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,735,983 (GRCm39) |
V317A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,088 (GRCm39) |
S220P |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,354,655 (GRCm39) |
L241P |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Defb13 |
G |
T |
8: 22,436,828 (GRCm39) |
V8F |
possibly damaging |
Het |
| Dpp6 |
C |
T |
5: 27,022,808 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,065 (GRCm39) |
D3239G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,474,062 (GRCm39) |
R4793S |
possibly damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,625 (GRCm39) |
Q426L |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Il20rb |
T |
A |
9: 100,356,947 (GRCm39) |
Y61F |
probably damaging |
Het |
| Iqcn |
C |
T |
8: 71,169,441 (GRCm39) |
S1177L |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,448,882 (GRCm39) |
V496D |
possibly damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,317,109 (GRCm39) |
S102P |
unknown |
Het |
| Jmjd8 |
T |
A |
17: 26,048,302 (GRCm39) |
F108I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,626,097 (GRCm39) |
T55A |
possibly damaging |
Het |
| Lce3d |
A |
T |
3: 92,865,810 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,766,761 (GRCm39) |
V702F |
probably damaging |
Het |
| Lox |
G |
A |
18: 52,661,420 (GRCm39) |
A218V |
probably benign |
Het |
| Mcrs1 |
T |
A |
15: 99,146,735 (GRCm39) |
K99* |
probably null |
Het |
| Mfsd8 |
G |
A |
3: 40,801,270 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
G |
T |
3: 88,818,863 (GRCm39) |
P264Q |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,303 (GRCm39) |
D308G |
probably benign |
Het |
| Or5g25 |
G |
T |
2: 85,478,136 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,814 (GRCm39) |
H36L |
probably damaging |
Het |
| Pate9 |
A |
G |
9: 36,446,250 (GRCm39) |
V54A |
probably benign |
Het |
| Phf20l1 |
T |
G |
15: 66,511,797 (GRCm39) |
N925K |
possibly damaging |
Het |
| Pnliprp2 |
G |
T |
19: 58,754,714 (GRCm39) |
V253F |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,484,353 (GRCm39) |
D745G |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,407 (GRCm39) |
W158R |
possibly damaging |
Het |
| Rcn3 |
T |
A |
7: 44,734,331 (GRCm39) |
I226F |
probably damaging |
Het |
| Rhbdl1 |
C |
G |
17: 26,054,825 (GRCm39) |
V157L |
probably damaging |
Het |
| Slc30a2 |
A |
G |
4: 134,074,761 (GRCm39) |
T173A |
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,076,902 (GRCm39) |
K53E |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,065 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,067,737 (GRCm39) |
C2055S |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,400,426 (GRCm39) |
R406Q |
probably benign |
Het |
| Tmem150b |
C |
T |
7: 4,719,327 (GRCm39) |
G198S |
probably null |
Het |
| Tnfrsf14 |
T |
G |
4: 155,011,118 (GRCm39) |
Q81P |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,568 (GRCm39) |
K40R |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,934,504 (GRCm39) |
V560E |
probably damaging |
Het |
| Vmn1r14 |
A |
G |
6: 57,211,015 (GRCm39) |
M198V |
probably damaging |
Het |
| Vmn2r23 |
G |
A |
6: 123,681,500 (GRCm39) |
S136N |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,199 (GRCm39) |
V791I |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,829,704 (GRCm39) |
Y984C |
|
Het |
| Zfp386 |
T |
G |
12: 116,023,027 (GRCm39) |
D248E |
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 |
|
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'- AGAAATGCAAGCTGAAGCCTC -3'
(R):5'- AGCTGGCATCCTTTAAGGCTAC -3'
Sequencing Primer
(F):5'- GCCTCAGCTGAGAGAGTAAAACTC -3'
(R):5'- GGCATCCTTTAAGGCTACCTGAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation