Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Tor1aip1'

47545

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156004599-156036480 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 156007674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 143 (K143*)

Ref Sequence

ENSEMBL: ENSMUSP00000126751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027738] [ENSMUST00000097527] [ENSMUST00000130995] [ENSMUST00000136331] [ENSMUST00000136397] [ENSMUST00000141878] [ENSMUST00000169241]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027738
AA Change: K272*

SMART Domains

Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: K272*

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	265	9.1e-36	PFAM
Pfam:LAP1C	257	520	6.7e-171	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097527
AA Change: K328*

SMART Domains

Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: K328*

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
low complexity region	149	167	N/A	INTRINSIC
Pfam:LAP1C	244	576	1.9e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130995

SMART Domains

Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136331

SMART Domains

Protein: ENSMUSP00000137617
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	283	8.4e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136397
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466
AA Change: K143*

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	77	5.6e-15	PFAM
Pfam:LAP1C	74	190	5.7e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141878
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466
AA Change: K143*

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	176	1.4e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169241
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466
AA Change: K143*

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	77	1.6e-14	PFAM
Pfam:LAP1C	75	391	2.4e-195	PFAM

Meta Mutation Damage Score

0.9646

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	Het

Other mutations in Tor1aip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Tor1aip1	APN	1	156031467	missense	probably benign	0.01
IGL00837:Tor1aip1	APN	1	156006916	utr 3 prime	probably benign
IGL02573:Tor1aip1	APN	1	156013371	missense	probably damaging	0.99
IGL02815:Tor1aip1	APN	1	156035916	missense	probably damaging	1.00
IGL02964:Tor1aip1	APN	1	156035844	missense	probably damaging	0.96
IGL03128:Tor1aip1	APN	1	156007035	missense	probably damaging	1.00
R0100:Tor1aip1	UTSW	1	156007075	missense	probably damaging	1.00
R0319:Tor1aip1	UTSW	1	156007181	missense	probably damaging	1.00
R0410:Tor1aip1	UTSW	1	156035940	missense	possibly damaging	0.85
R0458:Tor1aip1	UTSW	1	156030407	missense	probably damaging	0.99
R0563:Tor1aip1	UTSW	1	156035808	missense	probably damaging	1.00
R1696:Tor1aip1	UTSW	1	156017516	missense	possibly damaging	0.67
R1745:Tor1aip1	UTSW	1	156030434	splice site	probably null
R1830:Tor1aip1	UTSW	1	156007562	missense	probably damaging	1.00
R2132:Tor1aip1	UTSW	1	156007562	missense	probably damaging	1.00
R4487:Tor1aip1	UTSW	1	156007124	missense	probably damaging	1.00
R5613:Tor1aip1	UTSW	1	156033753	missense	probably damaging	0.98
R5657:Tor1aip1	UTSW	1	156007488	missense	probably damaging	1.00
R6123:Tor1aip1	UTSW	1	156007205	missense	probably damaging	1.00
R6380:Tor1aip1	UTSW	1	156018488	missense	possibly damaging	0.85
R6647:Tor1aip1	UTSW	1	156018253	missense	possibly damaging	0.94
R6852:Tor1aip1	UTSW	1	156035820	missense	probably damaging	0.99
R7354:Tor1aip1	UTSW	1	156036113	missense	probably damaging	0.98
R7463:Tor1aip1	UTSW	1	156007609	missense	possibly damaging	0.48
R7615:Tor1aip1	UTSW	1	156007584	missense	possibly damaging	0.93
R8859:Tor1aip1	UTSW	1	156031444	missense	probably benign	0.04
R8956:Tor1aip1	UTSW	1	156033836	intron	probably benign
R9495:Tor1aip1	UTSW	1	156030431	missense	probably damaging	1.00
R9514:Tor1aip1	UTSW	1	156030431	missense	probably damaging	1.00
R9628:Tor1aip1	UTSW	1	156017574	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGCTTCTCGTTTTGACTCTGGTA -3'
(R):5'- GGCTTCTGGATTGAGCAGTGCTTTA -3'

Sequencing Primer
(F):5'- ACTTAGACTGGAGTTGCTTCATC -3'
(R):5'- CACTCCCCCTTGAATCTAAGAA -3'

Posted On

2013-06-12