Mutagenetix > Incidental Mutation

Incidental Mutation 'R7137:Tor1aip2'

553110

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, 1110020D10Rik, Ifrg15, LULL1

MMRRC Submission

045248-MU

Accession Numbers

Essential gene?

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

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155911410-155944607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155927722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 33 (N33K)

Ref Sequence

ENSEMBL: ENSMUSP00000107383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000065648] [ENSMUST00000097526] [ENSMUST00000111754] [ENSMUST00000111757] [ENSMUST00000128941] [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

possibly damaging
Transcript: ENSMUST00000065648
AA Change: N33K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097526
AA Change: N33K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111754
AA Change: N33K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

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

possibly damaging
Transcript: ENSMUST00000128941
AA Change: N33K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000133152

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,654,944 (GRCm39)	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,173,399 (GRCm39)		probably null	Het
Adgrf5	A	G	17: 43,761,788 (GRCm39)	K1161R	probably damaging	Het
Aoc1l3	A	G	6: 48,967,083 (GRCm39)	Y677C	probably damaging	Het
Arhgap32	T	G	9: 32,063,232 (GRCm39)	D80E	probably benign	Het
Aspg	T	C	12: 112,078,632 (GRCm39)	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,613,531 (GRCm39)	D81G	probably damaging	Het
Cep170b	T	C	12: 112,701,601 (GRCm39)	V160A	probably benign	Het
Ces1c	T	C	8: 93,857,470 (GRCm39)	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,017,106 (GRCm39)	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459 (GRCm39)	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,442,022 (GRCm39)	A280V	probably benign	Het
Dnah2	C	T	11: 69,382,381 (GRCm39)	G1243D	probably damaging	Het
Eif1ad19	A	T	12: 87,740,316 (GRCm39)	L81Q	possibly damaging	Het
Emcn	T	G	3: 137,109,752 (GRCm39)	N131K	probably damaging	Het
Fat3	A	T	9: 15,908,444 (GRCm39)	D2519E	probably damaging	Het
Fibin	T	A	2: 110,193,001 (GRCm39)	D47V	probably damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Gimap8	C	A	6: 48,627,187 (GRCm39)	L54I	probably damaging	Het
Gm20481	A	G	17: 35,189,071 (GRCm39)	Y27C	unknown	Het
Grin1	T	G	2: 25,203,550 (GRCm39)	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,729,197 (GRCm39)	L20P	probably damaging	Het
Insc	G	A	7: 114,410,850 (GRCm39)	V236I	probably benign	Het
Lrrk1	A	G	7: 65,935,027 (GRCm39)	F1031L	probably benign	Het
Man2a2	C	A	7: 80,009,499 (GRCm39)	R785L	probably benign	Het
Mcur1	C	A	13: 43,697,931 (GRCm39)		probably null	Het
Med12l	A	C	3: 59,165,675 (GRCm39)	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,520,115 (GRCm39)	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,234,783 (GRCm39)	I762V	probably benign	Het
Nfkbid	A	G	7: 30,125,681 (GRCm39)	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,770,989 (GRCm39)	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,400,445 (GRCm39)	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,444,472 (GRCm39)	E1093D	probably benign	Het
Plcg1	T	C	2: 160,595,846 (GRCm39)	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,494,199 (GRCm39)	L139P	probably damaging	Het
Psma1	A	G	7: 113,873,683 (GRCm39)	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,471,377 (GRCm39)	E76G	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pyy	T	G	11: 101,998,099 (GRCm39)	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,803,228 (GRCm39)	T21A	probably benign	Het
Slc25a2	T	C	18: 37,771,200 (GRCm39)	I110V	probably benign	Het
Sult1c2	A	C	17: 54,145,422 (GRCm39)	W85G	probably damaging	Het
Syt12	C	T	19: 4,503,978 (GRCm39)	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616 (GRCm39)	V1462M	probably damaging	Het
Usp17lb	C	A	7: 104,490,798 (GRCm39)	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,664,612 (GRCm39)	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,015,173 (GRCm39)		probably benign	Het
Wrnip1	A	G	13: 32,986,732 (GRCm39)	D171G	probably benign	Het
Zar1	T	A	5: 72,738,159 (GRCm39)	N81I	probably damaging	Het
Zbtb45	T	C	7: 12,741,083 (GRCm39)	T392A	probably benign	Het
Zfp445	T	C	9: 122,683,843 (GRCm39)	E272G	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
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
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'- GTTGCTAAAGGAAACTGTAACTGG -3'
(R):5'- TTCTAACCAGTGGAGGACCC -3'

Sequencing Primer
(F):5'- GAAACTGTAACTGGACTGACTGTTGC -3'
(R):5'- CCCAGAAGAAATGGATGGCAAGC -3'

Posted On

2019-05-15