Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02328:Tor1aip2'

288565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, 1110020D10Rik, Ifrg15, LULL1

Accession Numbers

Essential gene?

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

Stock #

IGL02328

Quality Score

Status

Chromosome

Chromosomal Location

155911410-155944607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155940720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 342 (C342F)

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: C342F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: C342F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111757
AA Change: C342F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: C342F

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,726,294 (GRCm39)	N577I	probably damaging	Het
Arhgef1	T	C	7: 24,623,240 (GRCm39)	L667P	probably damaging	Het
Btk	G	A	X: 133,459,449 (GRCm39)	P192L	probably damaging	Het
Col12a1	T	A	9: 79,589,348 (GRCm39)	Y1069F	probably damaging	Het
Dnah7a	C	T	1: 53,564,096 (GRCm39)		probably null	Het
E230025N22Rik	A	G	18: 36,828,667 (GRCm39)	S4P	probably damaging	Het
Ei24	A	T	9: 36,696,827 (GRCm39)		probably null	Het
Foxred2	A	G	15: 77,840,032 (GRCm39)	L86P	probably damaging	Het
Gm3127	A	T	14: 15,424,989 (GRCm39)	R42W	probably damaging	Het
Hgf	A	G	5: 16,803,219 (GRCm39)	Y377C	probably damaging	Het
Hpse2	A	T	19: 42,920,038 (GRCm39)	L354I	probably damaging	Het
Hspa4	A	G	11: 53,190,885 (GRCm39)		probably null	Het
Iqcg	T	G	16: 32,839,876 (GRCm39)	I357L	probably benign	Het
Itsn1	T	C	16: 91,612,295 (GRCm39)	L204P	probably damaging	Het
Kalrn	T	C	16: 34,152,594 (GRCm39)	N311S	probably damaging	Het
Lmod2	A	G	6: 24,603,832 (GRCm39)	D269G	probably benign	Het
Med16	A	G	10: 79,743,376 (GRCm39)	S29P	probably damaging	Het
Mex3b	T	C	7: 82,518,920 (GRCm39)	S412P	probably benign	Het
Myo15a	A	G	11: 60,417,433 (GRCm39)	I3443V	probably benign	Het
Naip2	A	T	13: 100,297,877 (GRCm39)	L720I	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Or4z4	T	A	19: 12,076,146 (GRCm39)	I286F	probably damaging	Het
Or52ab4	A	T	7: 102,987,497 (GRCm39)	I79F	probably damaging	Het
Or6c213	T	C	10: 129,573,895 (GRCm39)	D297G	probably benign	Het
Or8b1b	A	T	9: 38,375,972 (GRCm39)	I212F	probably benign	Het
Pan3	A	G	5: 147,466,933 (GRCm39)		probably null	Het
Pitpnm2	T	C	5: 124,259,477 (GRCm39)	Q1286R	probably damaging	Het
Scgb2b24	A	G	7: 33,438,050 (GRCm39)		probably benign	Het
Sh2b3	T	C	5: 121,955,922 (GRCm39)	D520G	probably benign	Het
Skint4	T	A	4: 111,977,255 (GRCm39)	I215N	possibly damaging	Het
Slc24a5	A	G	2: 124,922,559 (GRCm39)	D107G	probably damaging	Het
Slit2	T	C	5: 48,387,646 (GRCm39)	I549T	probably damaging	Het
Stambp	A	G	6: 83,533,363 (GRCm39)	L300P	possibly damaging	Het
Taf2	T	C	15: 54,891,772 (GRCm39)	N1017S	probably benign	Het
Tm9sf2	T	G	14: 122,380,842 (GRCm39)	V145G	possibly damaging	Het
Ubr4	C	T	4: 139,206,233 (GRCm39)	T4823M	probably damaging	Het
Vmn1r80	G	T	7: 11,927,405 (GRCm39)	A172S	probably benign	Het
Vmn2r67	T	A	7: 84,799,898 (GRCm39)	N447Y	probably benign	Het
Zbtb1	A	G	12: 76,433,450 (GRCm39)	N479D	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
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
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

Posted On

2015-04-16