Incidental Mutation 'IGL00837:Tor1aip1'
ID 26576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor1aip1
Ensembl Gene ENSMUSG00000026466
Gene Name torsin A interacting protein 1
Synonyms LAP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00837
Quality Score
Status
Chromosome 1
Chromosomal Location 155880345-155912226 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 155882662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000027738
SMART Domains Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:LAP1C 1 176 1.4e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169241
SMART Domains Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466

DomainStartEndE-ValueType
Pfam:LAP1C 1 77 1.6e-14 PFAM
Pfam:LAP1C 75 391 2.4e-195 PFAM
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,438,605 (GRCm39) probably benign Het
Adig T A 2: 158,344,709 (GRCm39) F16Y possibly damaging Het
Alox12e T C 11: 70,211,880 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,646,724 (GRCm39) probably benign Het
Aoc1 T A 6: 48,885,598 (GRCm39) I701N possibly damaging Het
Armc1 A C 3: 19,198,584 (GRCm39) N125K probably benign Het
Bcl2a1c A T 9: 114,159,560 (GRCm39) T113S probably benign Het
Cdh10 A T 15: 19,013,490 (GRCm39) I697L probably benign Het
Cep350 A T 1: 155,829,137 (GRCm39) S256T probably damaging Het
Chd6 T C 2: 160,883,999 (GRCm39) N82S probably benign Het
Gart T C 16: 91,435,608 (GRCm39) probably benign Het
Gtf3c6 A G 10: 40,130,470 (GRCm39) probably benign Het
Igf1r T C 7: 67,851,100 (GRCm39) probably benign Het
Mtmr6 T A 14: 60,517,666 (GRCm39) Y92* probably null Het
Muc13 A T 16: 33,628,329 (GRCm39) K360* probably null Het
Nfyc A G 4: 120,638,744 (GRCm39) probably benign Het
Pole T A 5: 110,449,875 (GRCm39) V774E possibly damaging Het
Rnf217 A G 10: 31,379,770 (GRCm39) L484P probably damaging Het
Slc18a2 A T 19: 59,272,816 (GRCm39) I373F probably benign Het
Slc5a9 A G 4: 111,750,887 (GRCm39) probably benign Het
Tbc1d30 T C 10: 121,132,750 (GRCm39) I205V probably damaging Het
Tfap2d A T 1: 19,189,430 (GRCm39) D270V probably damaging Het
Tmem63c G A 12: 87,123,971 (GRCm39) S483N probably benign Het
Tsga10 A C 1: 37,840,992 (GRCm39) probably benign Het
Ttc21b A T 2: 66,065,915 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,825 (GRCm39) L143* probably null Het
Other mutations in Tor1aip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Tor1aip1 APN 1 155,907,213 (GRCm39) missense probably benign 0.01
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
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
Posted On 2013-04-17