Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Spata18'

323478

Institutional Source

Beutler Lab

Gene Symbol

Spata18

Ensembl Gene

ENSMUSG00000029155

Gene Name

spermatogenesis associated 18

Synonyms

1700067I02Rik

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

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

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73808722-73836855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73824245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 156 (I156T)

Ref Sequence

ENSEMBL: ENSMUSP00000064308 (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: I156T

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: I156T

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: I42T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: I42T

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

0.0715

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Sco1	A	T	11: 66,946,626 (GRCm39)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Telo2	A	T	17: 25,334,230 (GRCm39)	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,115,491 (GRCm39)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Xrcc5	T	C	1: 72,433,879 (GRCm39)	*733Q	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (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
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
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'- TTTGACCAAGCAAGGGACG -3'
(R):5'- AAAGCCCTGCCTCATTTGCG -3'

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

Posted On

2015-06-20