Mutagenetix > Incidental Mutation

Incidental Mutation 'R5564:Tor1aip2'

436724

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, 1110020D10Rik, Ifrg15, LULL1

MMRRC Submission

043121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155911410-155944607 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 155939307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000111757] [ENSMUST00000133152]

AlphaFold

Q8BYU6

Predicted Effect

probably benign
Transcript: ENSMUST00000060404

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111757

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125371

Predicted Effect

probably benign
Transcript: ENSMUST00000133152

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,513 (GRCm39)	V322A	probably benign	Het
Abca8b	G	T	11: 109,825,407 (GRCm39)	L1598M	probably benign	Het
Adam4	T	C	12: 81,466,348 (GRCm39)	T758A	probably benign	Het
B3galnt2	T	C	13: 14,169,814 (GRCm39)	I424T	probably damaging	Het
Cacna1g	T	C	11: 94,321,312 (GRCm39)	Y1316C	probably damaging	Het
Cacna2d1	T	C	5: 16,517,517 (GRCm39)	S388P	probably damaging	Het
Ccdc157	A	G	11: 4,098,765 (GRCm39)	L247S	probably damaging	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cdhr3	G	T	12: 33,098,985 (GRCm39)	Y535*	probably null	Het
Clasp2	T	C	9: 113,641,836 (GRCm39)		probably null	Het
Col16a1	T	A	4: 129,947,151 (GRCm39)	D165E	probably damaging	Het
Col9a1	A	T	1: 24,234,436 (GRCm39)		probably benign	Het
Cpa3	A	T	3: 20,296,307 (GRCm39)	I10N	possibly damaging	Het
Cstf3	T	A	2: 104,439,347 (GRCm39)		probably benign	Het
Dnah3	C	A	7: 119,570,689 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,874,706 (GRCm39)	C263R	probably benign	Het
Eps8l2	C	A	7: 140,936,534 (GRCm39)	Q288K	possibly damaging	Het
Fam193a	T	A	5: 34,578,199 (GRCm39)	V231D	probably damaging	Het
Gjd3	C	T	11: 102,691,029 (GRCm39)	G325S	probably benign	Het
Gpatch8	T	A	11: 102,429,111 (GRCm39)	E39D	unknown	Het
Gpr107	C	T	2: 31,042,375 (GRCm39)	A2V	probably damaging	Het
Kansl3	G	T	1: 36,385,045 (GRCm39)	H629N	possibly damaging	Het
Kcna10	C	A	3: 107,101,545 (GRCm39)	H59N	probably benign	Het
Kitl	A	T	10: 99,915,886 (GRCm39)	E138D	possibly damaging	Het
Kpna2	T	C	11: 106,881,571 (GRCm39)	K353R	probably damaging	Het
M1ap	T	A	6: 82,958,798 (GRCm39)	I143N	probably damaging	Het
Macf1	A	G	4: 123,420,538 (GRCm39)	S239P	possibly damaging	Het
Med13l	T	A	5: 118,880,105 (GRCm39)	S1066T	probably damaging	Het
Mettl23	G	T	11: 116,739,865 (GRCm39)	E47*	probably null	Het
Or52i2	T	C	7: 102,319,433 (GRCm39)	F102S	probably damaging	Het
Or5af1	C	T	11: 58,722,039 (GRCm39)	Q20*	probably null	Het
Proca1	T	A	11: 78,092,699 (GRCm39)	D48E	possibly damaging	Het
Rab34	T	G	11: 78,082,458 (GRCm39)	V227G	probably damaging	Het
Rab7	A	T	6: 87,990,632 (GRCm39)	L14Q	probably damaging	Het
Rasgef1c	C	T	11: 49,847,934 (GRCm39)	S23F	probably benign	Het
Rit1	A	G	3: 88,633,457 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,174,568 (GRCm39)	T172A	probably benign	Het
Scmh1	C	A	4: 120,325,575 (GRCm39)	N97K	probably damaging	Het
Skint6	T	C	4: 112,846,162 (GRCm39)	E655G	possibly damaging	Het
Slc22a15	A	G	3: 101,771,905 (GRCm39)	V243A	probably benign	Het
Smg1	A	G	7: 117,789,042 (GRCm39)		probably benign	Het
Smim7	C	T	8: 73,324,867 (GRCm39)	G3R	probably damaging	Het
Snurf	C	T	7: 59,645,282 (GRCm39)	R44H	possibly damaging	Het
Snx13	G	A	12: 35,174,471 (GRCm39)	A667T	possibly damaging	Het
Sowaha	T	G	11: 53,369,590 (GRCm39)	H382P	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem259	G	T	10: 79,814,442 (GRCm39)		probably null	Het
Topbp1	A	G	9: 103,211,277 (GRCm39)	T945A	probably damaging	Het
Ube3b	T	C	5: 114,527,136 (GRCm39)	V118A	probably damaging	Het
Usp38	T	C	8: 81,711,717 (GRCm39)	K773E	probably damaging	Het
Wnk1	G	A	6: 119,925,852 (GRCm39)		probably benign	Het
Zfp871	A	G	17: 32,994,842 (GRCm39)	V111A	possibly 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
R4243:Tor1aip2	UTSW	1	155,941,182 (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
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'- CAATTCCACCATTGTAGAGGTTCATC -3'
(R):5'- GCATAAACAACATAGCTTTCTGTGC -3'

Sequencing Primer
(F):5'- GCTAACCAACGACTTTGG -3'
(R):5'- ACAACATAGCTTTCTGTGCATTTTC -3'

Posted On

2016-10-24