Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Spata18'

45615

Institutional Source

Beutler Lab

Gene Symbol

Spata18

Ensembl Gene

ENSMUSG00000029155

Gene Name

spermatogenesis associated 18

Synonyms

1700067I02Rik

MMRRC Submission

038749-MU

Accession Numbers

Essential gene?

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

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73808722-73836855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73809013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 29 (N29Y)

Ref Sequence

ENSEMBL: ENSMUSP00000040922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041422] [ENSMUST00000071077] [ENSMUST00000081170] [ENSMUST00000178631]

AlphaFold

Q0P557

Predicted Effect

probably damaging
Transcript: ENSMUST00000041422
AA Change: N29Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155
AA Change: N29Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071077
AA Change: N29Y

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: N29Y

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: ENSMUST00000081170

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	56	305	4.3e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178631
AA Change: N29Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: N29Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201845

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	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
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'- AAGCTACATCACCCCGTCGTTCAG -3'
(R):5'- AGTGCAACCTTTACAAGTGCCCC -3'

Sequencing Primer
(F):5'- GTCGTTCAGCCTAAGCCAC -3'
(R):5'- TCCTTAATAGCACCCAGGTGTAG -3'

Posted On

2013-06-11