Mutagenetix > Incidental Mutation

Incidental Mutation 'R8765:Spata18'

667814

Institutional Source

Beutler Lab

Gene Symbol

Spata18

Ensembl Gene

ENSMUSG00000029155

Gene Name

spermatogenesis associated 18

Synonyms

1700067I02Rik

MMRRC Submission

068599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73808722-73836855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73825992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 100 (S100P)

Ref Sequence

ENSEMBL: ENSMUSP00000137444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041422] [ENSMUST00000071077] [ENSMUST00000113548] [ENSMUST00000178631]

AlphaFold

Q0P557

Predicted Effect

probably benign
Transcript: ENSMUST00000041422
AA Change: S182P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155
AA Change: S182P

Domain	Start	End	E-Value	Type
coiled coil region	178	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071077
AA Change: S214P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: S214P

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 benign
Transcript: ENSMUST00000113548

SMART Domains

Protein: ENSMUSP00000109176
Gene: ENSMUSG00000029155

Domain	Start	End	E-Value	Type
Pfam:MIEAP	6	195	2e-67	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: S100P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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 Apc^Min 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,566,956 (GRCm39)	D452N	possibly damaging	Het
Actr1a	G	T	19: 46,372,787 (GRCm39)		probably benign	Het
Alox15	A	G	11: 70,240,819 (GRCm39)	V187A	probably benign	Het
Alpk1	A	T	3: 127,466,118 (GRCm39)	N1129K	probably damaging	Het
Angptl1	A	G	1: 156,684,727 (GRCm39)	N299D	probably benign	Het
Ank2	T	C	3: 126,850,731 (GRCm39)	T128A	possibly damaging	Het
Armh4	C	T	14: 49,920,100 (GRCm39)	R743K	probably damaging	Het
Arsj	G	A	3: 126,232,781 (GRCm39)	R509K	probably benign	Het
Atp6v0a2	G	A	5: 124,793,534 (GRCm39)	M630I	probably damaging	Het
BC107364	T	C	3: 96,341,751 (GRCm39)	H122R	unknown	Het
Bdh2	T	C	3: 134,996,841 (GRCm39)	M112T	probably benign	Het
C1qtnf3	G	A	15: 10,952,843 (GRCm39)		probably null	Het
Cables1	T	C	18: 12,056,422 (GRCm39)	L326P	probably benign	Het
Cacna1c	C	A	6: 118,580,844 (GRCm39)	A1769S		Het
Cacna2d2	T	C	9: 107,394,358 (GRCm39)	L567P	probably damaging	Het
Cacnb4	C	T	2: 52,327,001 (GRCm39)	R399H	probably damaging	Het
Cacng4	A	C	11: 107,625,976 (GRCm39)	I205S	probably damaging	Het
Ciz1	A	G	2: 32,260,895 (GRCm39)	K269E	probably damaging	Het
Csf1	A	G	3: 107,663,991 (GRCm39)	V35A	probably benign	Het
Csmd1	G	T	8: 16,760,627 (GRCm39)	Y169*	probably null	Het
Ctnna1	T	A	18: 35,384,293 (GRCm39)	M756K	probably damaging	Het
Dnah7b	T	A	1: 46,392,159 (GRCm39)	L3840Q	possibly damaging	Het
Fabp9	T	C	3: 10,258,813 (GRCm39)	*143W	probably null	Het
Fh1	C	T	1: 175,435,378 (GRCm39)		probably benign	Het
Fmo2	T	C	1: 162,707,966 (GRCm39)	T390A	probably benign	Het
Fsip1	G	T	2: 118,082,154 (GRCm39)	D93E	possibly damaging	Het
Golga5	A	G	12: 102,445,963 (GRCm39)	D406G	probably benign	Het
Gucy2d	C	A	7: 98,108,347 (GRCm39)	A760E	probably benign	Het
Hax1	T	C	3: 89,904,780 (GRCm39)	I141V	probably benign	Het
Hid1	T	A	11: 115,239,786 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,556,413 (GRCm39)	V2458I	probably damaging	Het
Igkv4-72	A	G	6: 69,203,894 (GRCm39)	V99A	probably benign	Het
Igkv5-39	G	A	6: 69,877,915 (GRCm39)	S16L	probably benign	Het
Ints4	T	A	7: 97,151,016 (GRCm39)	D294E	possibly damaging	Het
Lcn11	A	G	2: 25,668,139 (GRCm39)	Y99C	probably damaging	Het
Lrrc8b	G	A	5: 105,629,133 (GRCm39)	R493H	probably benign	Het
Mon1b	A	T	8: 114,362,881 (GRCm39)	D43V	possibly damaging	Het
Mrpl9	G	A	3: 94,355,129 (GRCm39)	V234I	possibly damaging	Het
Nek10	A	T	14: 14,999,104 (GRCm38)	E1034D	probably damaging	Het
Nfxl1	T	C	5: 72,686,443 (GRCm39)	H586R	probably benign	Het
Nit2	T	A	16: 56,979,832 (GRCm39)	D211V	probably benign	Het
Nle1	G	A	11: 82,793,882 (GRCm39)	R385C	probably damaging	Het
Or10ak12	T	C	4: 118,666,159 (GRCm39)	T301A	probably benign	Het
Or1i2	C	T	10: 78,448,429 (GRCm39)	M15I	probably benign	Het
Or2a25	T	C	6: 42,889,102 (GRCm39)	V215A	probably benign	Het
Or2ab1	G	T	11: 58,488,785 (GRCm39)	V182F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,467 (GRCm39)	H132R	probably benign	Het
Or6c213	A	G	10: 129,574,511 (GRCm39)	Y92H	probably damaging	Het
Pcdh10	T	C	3: 45,333,923 (GRCm39)	I79T	probably damaging	Het
Peg10	A	G	6: 4,754,492 (GRCm39)	D91G	unknown	Het
Plec	C	T	15: 76,066,045 (GRCm39)	A1342T	unknown	Het
Ppp2r3d	A	G	9: 124,439,649 (GRCm38)	V68A		Het
Pramel46	T	C	5: 95,419,447 (GRCm39)	M1V	probably null	Het
Psd3	A	T	8: 68,416,093 (GRCm39)	D315E	possibly damaging	Het
Rack1	A	G	11: 48,694,286 (GRCm39)	N162S	probably benign	Het
Slc12a8	C	A	16: 33,338,731 (GRCm39)	H11Q	possibly damaging	Het
Slc44a5	A	T	3: 153,968,561 (GRCm39)	D584V	probably damaging	Het
Stap2	G	T	17: 56,310,145 (GRCm39)	S53R	probably damaging	Het
Timeless	T	C	10: 128,080,412 (GRCm39)		probably null	Het
Tlk1	A	T	2: 70,582,581 (GRCm39)	S183T	probably benign	Het
Tpp2	T	A	1: 44,011,849 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,654,663 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,696,145 (GRCm39)	V40A	probably benign	Het
Vmn1r15	T	C	6: 57,235,585 (GRCm39)	V151A	probably benign	Het
Vmn1r198	A	C	13: 22,539,269 (GRCm39)	I252L	probably damaging	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Wdr89	A	G	12: 75,679,688 (GRCm39)	S189P	probably damaging	Het
Zfp1006	T	C	8: 129,948,070 (GRCm39)	D49G	probably benign	Het
Zfp873	T	A	10: 81,896,072 (GRCm39)	C268S	probably damaging	Het
Zfp932	T	A	5: 110,154,827 (GRCm39)	D8E	probably benign	Het
Zfyve16	T	C	13: 92,658,055 (GRCm39)	R619G	probably benign	Het
Zswim2	A	T	2: 83,771,431 (GRCm39)	I31N	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
R4061:Spata18	UTSW	5	73,828,509 (GRCm39)	missense	probably damaging	1.00
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
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'- GATGATGACACGCTGACTGG -3'
(R):5'- GGGCTTGATTCCACTCTCGTAC -3'

Sequencing Primer
(F):5'- TCCCCCACTTTGTAGAAAACATATTC -3'
(R):5'- CGTACTCTCTGGCTGTGC -3'

Posted On

2021-03-08