Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Tor1aip2'

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283074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, Ifrg15, LULL1, 1110020D10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

156035403-156068861 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156065006 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 353 (S353P)

Ref Sequence

ENSEMBL: ENSMUSP00000107387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000111757]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060404
AA Change: S353P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: S353P

Domain	Start	End	E-Value	Type
Pfam:LAP1C	26	501	3.9e-222	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111757
AA Change: S353P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: S353P

Domain	Start	End	E-Value	Type
Pfam:LAP1C	26	501	3.9e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125371

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Tor1aip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Tor1aip2	APN	1	156059539	missense	probably benign	0.05
IGL02328:Tor1aip2	APN	1	156064974	missense	probably damaging	0.98
R0143:Tor1aip2	UTSW	1	156059548	missense	probably benign	0.06
R1037:Tor1aip2	UTSW	1	156065336	missense	probably benign	0.00
R1146:Tor1aip2	UTSW	1	156064737	missense	possibly damaging	0.51
R1146:Tor1aip2	UTSW	1	156064737	missense	possibly damaging	0.51
R1694:Tor1aip2	UTSW	1	156065285	missense	probably benign
R1922:Tor1aip2	UTSW	1	156064794	missense	probably damaging	1.00
R1955:Tor1aip2	UTSW	1	156051842	intron	probably benign
R2131:Tor1aip2	UTSW	1	156065349	missense	probably damaging	0.97
R3758:Tor1aip2	UTSW	1	156065289	missense	probably damaging	0.98
R4243:Tor1aip2	UTSW	1	156065436	missense	probably damaging	0.98
R4583:Tor1aip2	UTSW	1	156065142	missense	probably benign	0.01
R4678:Tor1aip2	UTSW	1	156065034	missense	probably damaging	0.99
R5564:Tor1aip2	UTSW	1	156063561	unclassified	probably benign
R6316:Tor1aip2	UTSW	1	156062094	missense	probably damaging	0.99
R6713:Tor1aip2	UTSW	1	156065409	missense	probably damaging	0.99
R6892:Tor1aip2	UTSW	1	156065181	missense	possibly damaging	0.95
R7137:Tor1aip2	UTSW	1	156051976	missense	possibly damaging	0.82
R8137:Tor1aip2	UTSW	1	156063668	missense	possibly damaging	0.93
Z1176:Tor1aip2	UTSW	1	156052189	missense	possibly damaging	0.66

Posted On

2015-04-16