Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Tor1aip1'

578540

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155880345-155912226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155883355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 349 (H349Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095134 (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 benign
Transcript: ENSMUST00000027738
AA Change: H293Q

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: H293Q

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

possibly damaging
Transcript: ENSMUST00000097527
AA Change: H349Q

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: H349Q

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

possibly damaging
Transcript: ENSMUST00000136397
AA Change: H164Q

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466
AA Change: H164Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141878
AA Change: H164Q

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466
AA Change: H164Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169241
AA Change: H164Q

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466
AA Change: H164Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Carmil3	C	T	14: 55,739,853 (GRCm39)	P980L	probably damaging	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316 (GRCm39)	H238R	probably damaging	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,217,532 (GRCm39)	G562R		Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Nudc	A	C	4: 133,261,714 (GRCm39)	V190G	possibly damaging	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	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
R6380:Tor1aip1	UTSW	1	155,894,234 (GRCm39)	missense	possibly damaging	0.85
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
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'- CATCTTGAGCTGCAGTGAGC -3'
(R):5'- GAGGTTCCATTACACTCAGCCTC -3'

Sequencing Primer
(F):5'- CAACAGGATGGCAGGCTG -3'
(R):5'- AGATAAAGTGGTGGCTGC -3'

Posted On

2019-10-07