Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Spata18'

213527

Institutional Source

Beutler Lab

Gene Symbol

Spata18

Ensembl Gene

ENSMUSG00000029155

Gene Name

spermatogenesis associated 18

Synonyms

1700067I02Rik

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

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

Stock #

R1937 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

73808722-73836855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73834307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 387 (R387Q)

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 damaging
Transcript: ENSMUST00000071077
AA Change: R501Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: R501Q

Domain	Start	End	E-Value	Type
coiled coil region	151	184	N/A	INTRINSIC
coiled coil region	210	243	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000113548

SMART Domains

Protein: ENSMUSP00000109176
Gene: ENSMUSG00000029155

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178631
AA Change: R387Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: R387Q

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly 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
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'- TTAGCGAGCACCAGAATGGG -3'
(R):5'- GGTCATATCAAGGCAACAGTTTTC -3'

Sequencing Primer
(F):5'- AGAATGGGATTTTACTGTAGCCG -3'
(R):5'- AAGGCAACAGTTTTCCTTTCTACG -3'

Posted On

2014-07-14