Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Spata18'

25270

Institutional Source

Beutler Lab

Gene Symbol

Spata18

Ensembl Gene

ENSMUSG00000029155

Gene Name

spermatogenesis associated 18

Synonyms

1700067I02Rik

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R0312 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

73808722-73836855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73824224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 35 (G35E)

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

SMART Domains

Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071077
AA Change: G149E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: G149E

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

probably benign
Transcript: ENSMUST00000178631
AA Change: G35E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: G35E

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	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
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
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'- TGTTTGACCAAGCAAGGGACGATAG -3'
(R):5'- CATAAAAGCCCTGCCTCATTTGCG -3'

Sequencing Primer
(F):5'- GTCCCTCCCAGTCCATCAG -3'
(R):5'- CCTCATTTGCGGGGGAG -3'

Posted On

2013-04-16