Mutagenetix > Incidental Mutation

Incidental Mutation 'R6852:Tor1aip1'

534997

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

045023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6852 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155880345-155912226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155911566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 139 (L139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027738 (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

probably damaging
Transcript: ENSMUST00000027738
AA Change: L139Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: L139Q

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: L139Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: L139Q

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

possibly damaging
Transcript: ENSMUST00000123705
AA Change: L77Q

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120602
Gene: ENSMUSG00000026466
AA Change: L77Q

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: L139Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466
AA Change: L139Q

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: L139Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137617
Gene: ENSMUSG00000026466
AA Change: L139Q

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

SMART Domains

Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466

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

SMART Domains

Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169241

SMART Domains

Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466

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: 99.6%
20x: 98.7%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,770,930 (GRCm39)	Q40*	probably null	Het
1700034E13Rik	T	C	18: 52,796,705 (GRCm39)	V81A	probably damaging	Het
A630089N07Rik	A	G	16: 97,866,855 (GRCm39)	I369T	probably benign	Het
Aatk	T	A	11: 119,901,294 (GRCm39)	Q977L	probably benign	Het
Abca4	A	T	3: 121,928,844 (GRCm39)	Q144H	probably damaging	Het
Ampd3	T	C	7: 110,401,753 (GRCm39)	F416L	probably benign	Het
Anks1b	A	G	10: 90,096,516 (GRCm39)	E425G	probably damaging	Het
Atm	A	G	9: 53,393,730 (GRCm39)	S1737P	possibly damaging	Het
Bsph1	T	A	7: 13,204,255 (GRCm39)		probably null	Het
Cabyr	C	T	18: 12,887,154 (GRCm39)	P262S	probably benign	Het
Cdc14a	G	A	3: 116,122,325 (GRCm39)	P214L	possibly damaging	Het
Cep128	C	A	12: 91,333,116 (GRCm39)		probably null	Het
Cfh	T	A	1: 140,075,487 (GRCm39)	R250S	probably damaging	Het
Ddx39a	T	C	8: 84,449,646 (GRCm39)	I417T	probably benign	Het
Dgka	T	A	10: 128,558,408 (GRCm39)	K548M	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Elapor1	T	C	3: 108,389,654 (GRCm39)	E203G	probably damaging	Het
Epg5	C	T	18: 78,056,106 (GRCm39)	T1760I	probably damaging	Het
Fat1	T	C	8: 45,488,635 (GRCm39)	V3472A	possibly damaging	Het
Fbxo48	T	A	11: 16,903,402 (GRCm39)	N9K	probably benign	Het
Fcgbpl1	T	A	7: 27,846,560 (GRCm39)	I1084N	probably damaging	Het
Fer1l6	A	T	15: 58,466,727 (GRCm39)	H833L	probably damaging	Het
Foxn1	G	T	11: 78,251,786 (GRCm39)	Q482K	probably benign	Het
Fstl5	A	G	3: 76,615,162 (GRCm39)	D741G	probably damaging	Het
Gmip	C	T	8: 70,270,641 (GRCm39)	Q55*	probably null	Het
H2-T5	T	C	17: 36,478,965 (GRCm39)	N95D	possibly damaging	Het
Hapln2	G	A	3: 87,929,958 (GRCm39)	T306M	possibly damaging	Het
Kat6a	T	A	8: 23,428,676 (GRCm39)	S1344T	probably benign	Het
Kctd1	C	T	18: 15,119,401 (GRCm39)	D705N	possibly damaging	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Micall2	G	T	5: 139,701,548 (GRCm39)	A482D	possibly damaging	Het
Mindy3	T	A	2: 12,424,063 (GRCm39)	M1L	possibly damaging	Het
Mtdh	A	G	15: 34,136,867 (GRCm39)	E352G	probably damaging	Het
Muc5ac	G	A	7: 141,370,644 (GRCm39)	V3219I	probably benign	Het
Myh4	A	G	11: 67,143,794 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,234,071 (GRCm39)	I377T	probably damaging	Het
Oog4	C	A	4: 143,165,679 (GRCm39)	C156F	possibly damaging	Het
Or5m9	A	T	2: 85,876,948 (GRCm39)	I41F	probably benign	Het
Pcyt1a	T	C	16: 32,288,938 (GRCm39)	S260P	probably damaging	Het
Phf3	A	T	1: 30,843,711 (GRCm39)	F1749L	probably damaging	Het
Prickle2	T	C	6: 92,353,525 (GRCm39)	D647G	probably benign	Het
Raver2	T	C	4: 100,990,787 (GRCm39)	S387P	probably benign	Het
Relch	T	C	1: 105,681,320 (GRCm39)	L1184P	probably damaging	Het
Rgs19	A	G	2: 181,330,941 (GRCm39)	S231P	possibly damaging	Het
Rpl8	G	T	15: 76,790,149 (GRCm39)	R198L	probably benign	Het
Sacs	T	A	14: 61,416,737 (GRCm39)	S77T	possibly damaging	Het
Samd14	G	A	11: 94,912,280 (GRCm39)	G219D	probably damaging	Het
Sec16a	C	T	2: 26,331,431 (GRCm39)	V195M	probably damaging	Het
Sesn2	C	T	4: 132,221,113 (GRCm39)	V453I	possibly damaging	Het
Slc46a3	A	T	5: 147,822,970 (GRCm39)	C291S	probably damaging	Het
Smarcal1	A	G	1: 72,630,332 (GRCm39)	T129A	possibly damaging	Het
Sorl1	T	A	9: 41,935,694 (GRCm39)	R1041W	possibly damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Srgap3	T	C	6: 112,793,622 (GRCm39)	D118G	probably damaging	Het
Tas2r117	T	A	6: 132,779,892 (GRCm39)	V10D	probably benign	Het
Tbcd	A	G	11: 121,500,206 (GRCm39)	K1111E	probably benign	Het
Trbv23	T	C	6: 41,193,181 (GRCm39)	V23A	probably damaging	Het
Ttll3	AAGTA	AAGTATAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttll3	GGCAAAG	GGCAAAGCAAAG	6: 113,376,116 (GRCm39)		probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r42	T	G	6: 89,821,769 (GRCm39)	T267P	possibly damaging	Het
Vmn2r53	C	A	7: 12,340,441 (GRCm39)	V11F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,361 (GRCm39)	M192V	probably damaging	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Zdhhc1	C	T	8: 106,203,704 (GRCm39)	G156S	possibly damaging	Het
Zfp318	AGAAG	AGAAGAGGAAG	17: 46,723,464 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAAAAAGAA	17: 46,723,459 (GRCm39)		probably benign	Het
Zfp318	AAGAAG	AAGAAGTAGAAG	17: 46,723,460 (GRCm39)		probably benign	Het
Zfp560	A	G	9: 20,259,339 (GRCm39)	C508R	probably damaging	Het
Zfp654	G	A	16: 64,606,961 (GRCm39)	L414F	probably damaging	Het
Zfp872	A	T	9: 22,111,355 (GRCm39)	Y278F	probably damaging	Het
Zscan20	T	C	4: 128,483,515 (GRCm39)	S385G	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
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
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'- AAACTGAAGCTCCAGGACTAGG -3'
(R):5'- AAGTGTACGGCGACTTCGAG -3'

Sequencing Primer
(F):5'- TCCAGGACTAGGCAGAGCTG -3'
(R):5'- CGGCCAAAGAAAGGTCTCCG -3'

Posted On

2018-09-12