Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Tor1aip1'

535662

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155880345-155912226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155894234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 274 (E274G)

Ref Sequence

ENSEMBL: ENSMUSP00000141619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130995]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130995
AA Change: E274G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466
AA Change: E274G

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	273	3.8e-36	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	probably damaging	Het

Other mutations in Tor1aip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Tor1aip1	APN	1	155,907,213 (GRCm39)	missense	probably benign	0.01
IGL00837:Tor1aip1	APN	1	155,882,662 (GRCm39)	utr 3 prime	probably benign
IGL02573:Tor1aip1	APN	1	155,889,117 (GRCm39)	missense	probably damaging	0.99
IGL02815:Tor1aip1	APN	1	155,911,662 (GRCm39)	missense	probably damaging	1.00
IGL02964:Tor1aip1	APN	1	155,911,590 (GRCm39)	missense	probably damaging	0.96
IGL03128:Tor1aip1	APN	1	155,882,781 (GRCm39)	missense	probably damaging	1.00
R0100:Tor1aip1	UTSW	1	155,882,821 (GRCm39)	missense	probably damaging	1.00
R0319:Tor1aip1	UTSW	1	155,882,927 (GRCm39)	missense	probably damaging	1.00
R0410:Tor1aip1	UTSW	1	155,911,686 (GRCm39)	missense	possibly damaging	0.85
R0458:Tor1aip1	UTSW	1	155,906,153 (GRCm39)	missense	probably damaging	0.99
R0506:Tor1aip1	UTSW	1	155,883,420 (GRCm39)	nonsense	probably null
R0563:Tor1aip1	UTSW	1	155,911,554 (GRCm39)	missense	probably damaging	1.00
R1696:Tor1aip1	UTSW	1	155,893,262 (GRCm39)	missense	possibly damaging	0.67
R1745:Tor1aip1	UTSW	1	155,906,180 (GRCm39)	splice site	probably null
R1830:Tor1aip1	UTSW	1	155,883,308 (GRCm39)	missense	probably damaging	1.00
R2132:Tor1aip1	UTSW	1	155,883,308 (GRCm39)	missense	probably damaging	1.00
R4487:Tor1aip1	UTSW	1	155,882,870 (GRCm39)	missense	probably damaging	1.00
R5613:Tor1aip1	UTSW	1	155,909,499 (GRCm39)	missense	probably damaging	0.98
R5657:Tor1aip1	UTSW	1	155,883,234 (GRCm39)	missense	probably damaging	1.00
R6123:Tor1aip1	UTSW	1	155,882,951 (GRCm39)	missense	probably damaging	1.00
R6647:Tor1aip1	UTSW	1	155,893,999 (GRCm39)	missense	possibly damaging	0.94
R6852:Tor1aip1	UTSW	1	155,911,566 (GRCm39)	missense	probably damaging	0.99
R7354:Tor1aip1	UTSW	1	155,911,859 (GRCm39)	missense	probably damaging	0.98
R7463:Tor1aip1	UTSW	1	155,883,355 (GRCm39)	missense	possibly damaging	0.48
R7615:Tor1aip1	UTSW	1	155,883,330 (GRCm39)	missense	possibly damaging	0.93
R8859:Tor1aip1	UTSW	1	155,907,190 (GRCm39)	missense	probably benign	0.04
R8956:Tor1aip1	UTSW	1	155,909,582 (GRCm39)	intron	probably benign
R9495:Tor1aip1	UTSW	1	155,906,177 (GRCm39)	missense	probably damaging	1.00
R9514:Tor1aip1	UTSW	1	155,906,177 (GRCm39)	missense	probably damaging	1.00
R9628:Tor1aip1	UTSW	1	155,893,320 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATGAGCTGGGAAGTCCTG -3'
(R):5'- CTTATCGTTGTCCAGTGCTAGG -3'

Sequencing Primer
(F):5'- CTGGGAAGTCCTGATCTAGAAC -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'

Posted On

2018-10-05