Mutagenetix > Incidental Mutation

Incidental Mutation 'R4243:Tor1aip2'

320279

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, 1110020D10Rik, Ifrg15, LULL1

MMRRC Submission

041643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R4243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155911410-155944607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155941182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 496 (E496G)

Ref Sequence

ENSEMBL: ENSMUSP00000107387 (fasta)

Gene Model

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

AlphaFold

Q8BYU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060404
AA Change: E496G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: E496G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111757
AA Change: E496G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: E496G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125371

Meta Mutation Damage Score

0.4033

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	C	A	5: 114,951,855 (GRCm39)	R40L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,733,203 (GRCm39)		noncoding transcript	Het
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
4933409G03Rik	C	T	2: 68,423,887 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
Birc2	T	C	9: 7,834,386 (GRCm39)	T32A	probably benign	Het
Cdh13	T	A	8: 119,968,996 (GRCm39)	V451E	probably damaging	Het
Cdh20	C	T	1: 104,869,868 (GRCm39)	T196I	probably damaging	Het
Cdt1	A	G	8: 123,298,157 (GRCm39)	M383V	probably benign	Het
Chrna9	T	C	5: 66,092,379 (GRCm39)		probably null	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,795,141 (GRCm39)	S959P	probably benign	Het
Ctbp2	A	G	7: 132,600,583 (GRCm39)	I647T	probably benign	Het
Cyld	A	T	8: 89,457,383 (GRCm39)	R536*	probably null	Het
Ddx1	A	T	12: 13,290,910 (GRCm39)	C68*	probably null	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Dynlt1b	T	C	17: 6,697,639 (GRCm39)		probably null	Het
Faxc	G	A	4: 21,982,491 (GRCm39)	R310Q	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Frmd5	C	A	2: 121,393,363 (GRCm39)		probably null	Het
Gm5174	C	A	10: 86,492,144 (GRCm39)		noncoding transcript	Het
Hspa12b	C	T	2: 130,983,778 (GRCm39)	H293Y	possibly damaging	Het
Jakmip2	A	G	18: 43,710,501 (GRCm39)	V234A	probably benign	Het
Jkamp	G	A	12: 72,140,799 (GRCm39)	V108I	probably benign	Het
Mettl23	T	C	11: 116,739,126 (GRCm39)	V72A	possibly damaging	Het
Morc2b	T	A	17: 33,355,375 (GRCm39)	Y799F	probably benign	Het
Mtmr11	T	A	3: 96,075,393 (GRCm39)	C358S	probably damaging	Het
Myo18b	G	A	5: 112,840,261 (GRCm39)	H2511Y	possibly damaging	Het
Mysm1	A	G	4: 94,857,248 (GRCm39)	V120A	probably benign	Het
Nhlrc1	C	T	13: 47,167,502 (GRCm39)	V252I	probably benign	Het
Or12j3	G	A	7: 139,952,857 (GRCm39)	A222V	probably benign	Het
Or2ak6	T	G	11: 58,593,277 (GRCm39)	L250R	probably damaging	Het
Or7g35	C	A	9: 19,495,854 (GRCm39)	T7K	probably damaging	Het
Pard3	G	A	8: 128,098,128 (GRCm39)	A390T	probably benign	Het
Pcdhga1	T	A	18: 37,796,605 (GRCm39)	D536E	probably damaging	Het
Phactr3	G	A	2: 177,924,982 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,526,339 (GRCm39)	N413D	possibly damaging	Het
Ppp1r12b	T	G	1: 134,709,846 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,083,649 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,304 (GRCm39)		probably null	Het
Rasa1	A	G	13: 85,392,314 (GRCm39)	Y407H	probably damaging	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Slc27a1	A	G	8: 72,037,617 (GRCm39)	T535A	probably benign	Het
Stra6	G	A	9: 58,050,309 (GRCm39)	A237T	probably benign	Het
Usp47	A	G	7: 111,707,836 (GRCm39)	D1294G	probably damaging	Het
Utp20	A	G	10: 88,643,187 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,971 (GRCm39)	C284*	probably null	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zbtb40	C	T	4: 136,745,860 (GRCm39)	A58T	probably benign	Het
Zfhx3	A	G	8: 109,518,952 (GRCm39)	T25A	probably damaging	Het

Other mutations in Tor1aip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Tor1aip2	APN	1	155,935,285 (GRCm39)	missense	probably benign	0.05
IGL02175:Tor1aip2	APN	1	155,940,752 (GRCm39)	missense	probably damaging	0.96
IGL02328:Tor1aip2	APN	1	155,940,720 (GRCm39)	missense	probably damaging	0.98
R0143:Tor1aip2	UTSW	1	155,935,294 (GRCm39)	missense	probably benign	0.06
R1037:Tor1aip2	UTSW	1	155,941,082 (GRCm39)	missense	probably benign	0.00
R1146:Tor1aip2	UTSW	1	155,940,483 (GRCm39)	missense	possibly damaging	0.51
R1146:Tor1aip2	UTSW	1	155,940,483 (GRCm39)	missense	possibly damaging	0.51
R1694:Tor1aip2	UTSW	1	155,941,031 (GRCm39)	missense	probably benign
R1922:Tor1aip2	UTSW	1	155,940,540 (GRCm39)	missense	probably damaging	1.00
R1955:Tor1aip2	UTSW	1	155,927,588 (GRCm39)	intron	probably benign
R2131:Tor1aip2	UTSW	1	155,941,095 (GRCm39)	missense	probably damaging	0.97
R3758:Tor1aip2	UTSW	1	155,941,035 (GRCm39)	missense	probably damaging	0.98
R4583:Tor1aip2	UTSW	1	155,940,888 (GRCm39)	missense	probably benign	0.01
R4678:Tor1aip2	UTSW	1	155,940,780 (GRCm39)	missense	probably damaging	0.99
R5564:Tor1aip2	UTSW	1	155,939,307 (GRCm39)	unclassified	probably benign
R6316:Tor1aip2	UTSW	1	155,937,840 (GRCm39)	missense	probably damaging	0.99
R6713:Tor1aip2	UTSW	1	155,941,155 (GRCm39)	missense	probably damaging	0.99
R6892:Tor1aip2	UTSW	1	155,940,927 (GRCm39)	missense	possibly damaging	0.95
R7137:Tor1aip2	UTSW	1	155,927,722 (GRCm39)	missense	possibly damaging	0.82
R8137:Tor1aip2	UTSW	1	155,939,414 (GRCm39)	missense	possibly damaging	0.93
R9456:Tor1aip2	UTSW	1	155,937,525 (GRCm39)	missense	possibly damaging	0.59
Z1176:Tor1aip2	UTSW	1	155,927,935 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CGTTAGAAGCAAGTGTAAGCCC -3'
(R):5'- TCTATTCTACTGATGTGCTGGAC -3'

Sequencing Primer
(F):5'- CAAGTGTAAGCCCCAGGG -3'
(R):5'- GTGCTGGACACTTAAACAATACATC -3'

Posted On

2015-06-12