Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Tor1aip1'

675498

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

068739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155880345-155912226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155907190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 195 (C195R)

Ref Sequence

ENSEMBL: ENSMUSP00000095134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027738] [ENSMUST00000097527] [ENSMUST00000111754] [ENSMUST00000111757] [ENSMUST00000128941] [ENSMUST00000130995] [ENSMUST00000133152] [ENSMUST00000136331] [ENSMUST00000136397] [ENSMUST00000141878] [ENSMUST00000169241]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027738
AA Change: C195R

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: C195R

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 benign
Transcript: ENSMUST00000097527
AA Change: C195R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: C195R

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: ENSMUST00000111754

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

probably benign
Transcript: ENSMUST00000123705

SMART Domains

Protein: ENSMUSP00000120602
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	59	4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128941

Predicted Effect

probably damaging
Transcript: ENSMUST00000130995
AA Change: C195R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466
AA Change: C195R

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: ENSMUST00000133152

Predicted Effect

probably damaging
Transcript: ENSMUST00000136331
AA Change: C195R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137617
Gene: ENSMUSG00000026466
AA Change: C195R

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 benign
Transcript: ENSMUST00000136397
AA Change: C10R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466
AA Change: C10R

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 benign
Transcript: ENSMUST00000141878
AA Change: C10R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466
AA Change: C10R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169241
AA Change: C10R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466
AA Change: C10R

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Arnt	T	C	3: 95,397,691 (GRCm39)		probably null	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Fubp1	A	T	3: 151,937,669 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Phrf1	G	T	7: 140,836,516 (GRCm39)	G263W	unknown	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tgm1	C	A	14: 55,949,686 (GRCm39)	R126L	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	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
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
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'- CACTTCTGAGTTTAGGGTGGACAG -3'
(R):5'- TTCACAAGAGGCCGCCTATC -3'

Sequencing Primer
(F):5'- CAGGCTGGCATTAAACGCTCTATG -3'
(R):5'- GCCGCCTATCCCTTAGAGAAAATTTG -3'

Posted On

2021-07-15