Mutagenetix > Incidental Mutations

Incidental Mutation 'R3758:Tor1aip2'

271505

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, Ifrg15, LULL1, 1110020D10Rik

MMRRC Submission

040739-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R3758 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156035403-156068861 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156065289 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 447 (E447G)

Ref Sequence

ENSEMBL: ENSMUSP00000107387 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000060404
AA Change: E447G

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

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: E447G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111757
AA Change: E447G

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

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: E447G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125371

Meta Mutation Damage Score

0.5981

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

93% (28/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 12,927,467		probably benign	Het
Bcat1	T	A	6: 145,032,872	I208F	probably damaging	Het
Cage1	A	C	13: 38,025,729	F91V	possibly damaging	Het
Cd200r3	T	G	16: 44,964,628		probably null	Het
Coq8b	C	T	7: 27,242,227	Q246*	probably null	Het
Dmxl1	G	A	18: 49,935,317	G2719D	probably damaging	Het
Fbln2	T	C	6: 91,256,381	S616P	probably damaging	Het
Fkbp10	G	A	11: 100,422,625		probably null	Het
Gabra1	G	T	11: 42,175,936	D50E	probably benign	Het
Hist1h1e	T	A	13: 23,622,257	K81*	probably null	Het
Hmgcs2	A	G	3: 98,291,090	N103S	probably damaging	Het
Htt	A	G	5: 34,895,970	H2549R	probably damaging	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrrc7	T	C	3: 158,163,965	N706D	probably damaging	Het
Mill1	G	A	7: 18,262,703		probably null	Het
Nipa2	T	C	7: 55,935,941	Y102C	probably damaging	Het
Nmd3	T	A	3: 69,724,308	C32*	probably null	Het
Olfr1251	A	G	2: 89,667,572	F105L	probably benign	Het
Olfr582	A	G	7: 103,041,970	S159G	probably benign	Het
Olfr745	A	G	14: 50,643,036	K252E	possibly damaging	Het
Olfr777	T	C	10: 129,269,065	D86G	probably damaging	Het
Pcdhb7	A	G	18: 37,343,026	D405G	possibly damaging	Het
Ptprt	A	T	2: 161,812,030	L560Q	probably damaging	Het
Serpinb9b	A	G	13: 33,035,588	Y166C	probably damaging	Het
Soga1	T	C	2: 157,020,638	N1457S	possibly damaging	Het
Sprr1a	T	G	3: 92,484,397	K99T	probably damaging	Het
Spsb4	A	G	9: 96,995,871	V133A	probably damaging	Het
Suz12	A	G	11: 80,024,942	T391A	probably benign	Het
Ube4a	G	A	9: 44,949,900		probably benign	Het
Wdfy4	A	C	14: 33,023,374	H2296Q	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
IGL02175:Tor1aip2	APN	1	156065006	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGACACAGTCAAGCTG -3'
(R):5'- CTTCACAAAAGGCAGCCTCG -3'

Sequencing Primer
(F):5'- CGATGGGTTTGAGAATGGCCAC -3'
(R):5'- AAAGGCAGCCTCGCTCTTCTATG -3'

Posted On

2015-03-18