Incidental Mutation 'R4061:Spata18'
| ID |
315854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata18
|
| Ensembl Gene |
ENSMUSG00000029155 |
| Gene Name |
spermatogenesis associated 18 |
| Synonyms |
1700067I02Rik |
| MMRRC Submission |
040852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73808722-73836855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73828509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 243
(K243E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041422]
[ENSMUST00000071077]
[ENSMUST00000113548]
[ENSMUST00000178631]
|
| AlphaFold |
Q0P557 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041422
AA Change: K325E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155
AA Change: K325E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
178 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071077
AA Change: K357E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: K357E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
151 |
184 |
N/A |
INTRINSIC |
|
coiled coil region
|
210 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113548
AA Change: K67E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109176
Gene: ENSMUSG00000029155
AA Change: K67E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIEAP
|
6 |
195 |
2e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178631
AA Change: K243E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: K243E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
151 |
184 |
N/A |
INTRINSIC |
|
coiled coil region
|
210 |
243 |
N/A |
INTRINSIC |
|
Pfam:MIEAP
|
296 |
485 |
1.2e-65 |
PFAM |
|
| Meta Mutation Damage Score |
0.2655 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam25 |
A |
G |
8: 41,206,819 (GRCm39) |
I28M |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,143,484 (GRCm39) |
S464G |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,729,488 (GRCm39) |
M550K |
probably damaging |
Het |
| Cab39l |
A |
G |
14: 59,737,056 (GRCm39) |
K59E |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 15,995,158 (GRCm39) |
S2626P |
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,345 (GRCm39) |
R99W |
probably benign |
Het |
| Deptor |
A |
T |
15: 55,072,177 (GRCm39) |
M219L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,264 (GRCm39) |
V1052A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,891 (GRCm39) |
S504N |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,170 (GRCm39) |
Y301F |
possibly damaging |
Het |
| Gm14443 |
G |
A |
2: 175,011,402 (GRCm39) |
T348I |
probably benign |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,035,583 (GRCm39) |
H552Q |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,440,003 (GRCm39) |
R182G |
possibly damaging |
Het |
| Krt12 |
A |
T |
11: 99,306,841 (GRCm39) |
M487K |
unknown |
Het |
| Lmln |
C |
A |
16: 32,886,761 (GRCm39) |
Y89* |
probably null |
Het |
| Lrrc38 |
T |
A |
4: 143,077,076 (GRCm39) |
L113Q |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,364,867 (GRCm39) |
D1947G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,221,715 (GRCm39) |
I177F |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,525,583 (GRCm39) |
Y904C |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,899,358 (GRCm39) |
P1000S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,293,680 (GRCm39) |
K298* |
probably null |
Het |
| Or5t7 |
T |
A |
2: 86,507,162 (GRCm39) |
I172F |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,580 (GRCm39) |
E960G |
unknown |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,819,832 (GRCm39) |
I141V |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,526,635 (GRCm39) |
M960K |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,846,937 (GRCm39) |
S67R |
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,139,750 (GRCm39) |
Q265R |
probably benign |
Het |
| Tec |
C |
T |
5: 72,980,752 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
A |
G |
13: 92,912,605 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,549,177 (GRCm39) |
Q635L |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
T |
C |
1: 169,986,415 (GRCm39) |
E189G |
possibly damaging |
Het |
| Usp21 |
G |
A |
1: 171,112,974 (GRCm39) |
|
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,832 (GRCm39) |
C95S |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,898 (GRCm39) |
E774V |
probably damaging |
Het |
|
| Other mutations in Spata18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Spata18
|
APN |
5 |
73,815,097 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01331:Spata18
|
APN |
5 |
73,827,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Spata18
|
APN |
5 |
73,836,688 (GRCm39) |
splice site |
probably null |
|
|
IGL01994:Spata18
|
APN |
5 |
73,814,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02192:Spata18
|
APN |
5 |
73,829,861 (GRCm39) |
splice site |
probably null |
|
|
IGL02253:Spata18
|
APN |
5 |
73,825,939 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03195:Spata18
|
APN |
5 |
73,828,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Spata18
|
APN |
5 |
73,828,449 (GRCm39) |
splice site |
probably benign |
|
|
ANU74:Spata18
|
UTSW |
5 |
73,828,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Spata18
|
UTSW |
5 |
73,824,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0557:Spata18
|
UTSW |
5 |
73,809,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Spata18
|
UTSW |
5 |
73,826,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1901:Spata18
|
UTSW |
5 |
73,828,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Spata18
|
UTSW |
5 |
73,834,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Spata18
|
UTSW |
5 |
73,824,244 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2229:Spata18
|
UTSW |
5 |
73,824,244 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2896:Spata18
|
UTSW |
5 |
73,815,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Spata18
|
UTSW |
5 |
73,836,423 (GRCm39) |
intron |
probably benign |
|
|
R3716:Spata18
|
UTSW |
5 |
73,824,193 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3717:Spata18
|
UTSW |
5 |
73,824,193 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4299:Spata18
|
UTSW |
5 |
73,824,245 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4963:Spata18
|
UTSW |
5 |
73,836,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5603:Spata18
|
UTSW |
5 |
73,828,575 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6381:Spata18
|
UTSW |
5 |
73,832,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6581:Spata18
|
UTSW |
5 |
73,826,859 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7062:Spata18
|
UTSW |
5 |
73,816,636 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7591:Spata18
|
UTSW |
5 |
73,829,759 (GRCm39) |
missense |
|
|
|
R7682:Spata18
|
UTSW |
5 |
73,826,008 (GRCm39) |
missense |
|
|
|
R7688:Spata18
|
UTSW |
5 |
73,809,005 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7783:Spata18
|
UTSW |
5 |
73,825,953 (GRCm39) |
missense |
|
|
|
R8051:Spata18
|
UTSW |
5 |
73,827,063 (GRCm39) |
missense |
|
|
|
R8765:Spata18
|
UTSW |
5 |
73,825,992 (GRCm39) |
missense |
|
|
|
R8951:Spata18
|
UTSW |
5 |
73,828,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9505:Spata18
|
UTSW |
5 |
73,809,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9514:Spata18
|
UTSW |
5 |
73,829,840 (GRCm39) |
missense |
|
|
|
R9515:Spata18
|
UTSW |
5 |
73,829,840 (GRCm39) |
missense |
|
|
|
X0061:Spata18
|
UTSW |
5 |
73,824,202 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTACGTTTGACCAACTG -3'
(R):5'- TCTCTTCCGCTGCATACAAG -3'
Sequencing Primer
(F):5'- ACGTTTGACCAACTGCGTTTAG -3'
(R):5'- CTTCCGCTGCATACAAGTAATATC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation