Incidental Mutation 'R9514:Tor1aip1'
ID 718345
Institutional Source Beutler Lab
Gene Symbol Tor1aip1
Ensembl Gene ENSMUSG00000026466
Gene Name torsin A interacting protein 1
Synonyms LAP1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 155880345-155912226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155906177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 205 (D205V)
Ref Sequence ENSEMBL: ENSMUSP00000095134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027738] [ENSMUST00000097527] [ENSMUST00000111757] [ENSMUST00000130995] [ENSMUST00000136331] [ENSMUST00000136397] [ENSMUST00000141878] [ENSMUST00000169241]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027738
AA Change: D205V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: D205V

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 damaging
Transcript: ENSMUST00000097527
AA Change: D205V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: D205V

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: ENSMUST00000111757
SMART Domains Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565

DomainStartEndE-ValueType
Pfam:LAP1C 26 501 3.9e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123705
SMART Domains Protein: ENSMUSP00000120602
Gene: ENSMUSG00000026466

DomainStartEndE-ValueType
Pfam:LAP1C 1 59 4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130995
AA Change: D205V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466
AA Change: D205V

DomainStartEndE-ValueType
low complexity region 107 121 N/A INTRINSIC
Pfam:LAP1C 122 273 3.8e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136331
AA Change: D205V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137617
Gene: ENSMUSG00000026466
AA Change: D205V

DomainStartEndE-ValueType
low complexity region 107 121 N/A INTRINSIC
Pfam:LAP1C 122 283 8.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136397
AA Change: D20V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466
AA Change: D20V

DomainStartEndE-ValueType
Pfam:LAP1C 1 77 5.6e-15 PFAM
Pfam:LAP1C 74 190 5.7e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141878
AA Change: D20V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466
AA Change: D20V

DomainStartEndE-ValueType
Pfam:LAP1C 1 176 1.4e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169241
AA Change: D20V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466
AA Change: D20V

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,312,533 (GRCm39) S4P probably benign Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Acsl6 A G 11: 54,225,880 (GRCm39) N307D probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
Bltp3a A G 17: 28,112,414 (GRCm39) D1201G probably damaging Het
Cacna2d4 T C 6: 119,213,611 (GRCm39) L10S probably benign Het
Cd33 A T 7: 43,182,150 (GRCm39) H98Q probably benign Het
Cebpz A T 17: 79,239,684 (GRCm39) M579K probably benign Het
Cenpk T G 13: 104,370,682 (GRCm39) C103G probably benign Het
Cep97 T A 16: 55,726,093 (GRCm39) Q670L probably benign Het
Cfap65 C T 1: 74,945,468 (GRCm39) probably null Het
Cir1 A G 2: 73,142,781 (GRCm39) S18P probably damaging Het
Coprs T C 8: 13,935,081 (GRCm39) Y158C probably damaging Het
Creld1 T C 6: 113,469,765 (GRCm39) F389S probably damaging Het
Dimt1 T C 13: 107,093,636 (GRCm39) I276T possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dsp T A 13: 38,371,781 (GRCm39) C911S probably benign Het
Egr3 A G 14: 70,314,978 (GRCm39) I29V probably benign Het
Fam186a A G 15: 99,844,766 (GRCm39) S493P unknown Het
Fam83a G A 15: 57,849,765 (GRCm39) G103D possibly damaging Het
Fat2 T A 11: 55,175,808 (GRCm39) Q1635L probably damaging Het
Figla A C 6: 85,997,689 (GRCm39) H139P probably benign Het
Fryl T C 5: 73,262,115 (GRCm39) K551E probably damaging Het
Galr2 A G 11: 116,174,452 (GRCm39) T361A probably benign Het
Gart A T 16: 91,427,596 (GRCm39) S467R probably benign Het
Ggps1 T C 13: 14,229,742 (GRCm39) K45R probably benign Het
Ghsr G C 3: 27,426,630 (GRCm39) V229L possibly damaging Het
H2ac21 A G 3: 96,127,401 (GRCm39) E57G probably damaging Het
Hectd2 A T 19: 36,582,689 (GRCm39) H473L possibly damaging Het
Hic2 T C 16: 17,076,293 (GRCm39) V374A possibly damaging Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Il17rc T C 6: 113,449,741 (GRCm39) S116P probably damaging Het
Krt34 A T 11: 99,929,226 (GRCm39) I328N probably damaging Het
Krt79 G A 15: 101,840,288 (GRCm39) R303C probably damaging Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lamb2 C T 9: 108,358,006 (GRCm39) T149I probably damaging Het
Mau2 T C 8: 70,480,153 (GRCm39) Y318C probably damaging Het
Mier2 T C 10: 79,377,496 (GRCm39) S486G probably benign Het
Mllt10 A G 2: 18,164,322 (GRCm39) D284G probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Ncoa6 A G 2: 155,248,133 (GRCm39) S1724P probably benign Het
Nipal4 T A 11: 46,052,922 (GRCm39) probably null Het
Nlrc4 G C 17: 74,753,736 (GRCm39) L216V probably benign Het
Ogfr A G 2: 180,235,417 (GRCm39) M164V possibly damaging Het
Or1o4 G T 17: 37,591,386 (GRCm39) probably benign Het
Or4b12 G A 2: 90,096,709 (GRCm39) Q22* probably null Het
Pcdha12 G T 18: 37,155,526 (GRCm39) W748C probably damaging Het
Pkd1l3 T C 8: 110,395,849 (GRCm39) V2083A probably damaging Het
Plin3 C A 17: 56,587,824 (GRCm39) G297V probably benign Het
Prex1 C T 2: 166,419,896 (GRCm39) R1260Q possibly damaging Het
Prpf38b A G 3: 108,818,619 (GRCm39) V47A probably benign Het
Ptch1 T C 13: 63,675,071 (GRCm39) T851A probably benign Het
Ptk7 T A 17: 46,887,744 (GRCm39) I563F possibly damaging Het
Ptprm A G 17: 67,116,466 (GRCm39) Y938H probably damaging Het
R3hcc1l G A 19: 42,507,203 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,443,684 (GRCm39) V89A probably benign Het
Sh2b1 CTC CTCCGCCACGGGGACCAGTTC 7: 126,066,770 (GRCm39) probably benign Het
Sh2b1 AGCTCAGCCACGGGGACC AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 ACCAGCTC ACCAGCTCAGCCACGGGGGCCAGCTC 7: 126,066,765 (GRCm39) probably benign Het
Slain1 T A 14: 103,932,748 (GRCm39) V444E probably damaging Het
Slc10a5 T A 3: 10,400,532 (GRCm39) I43F possibly damaging Het
Smarca2 T C 19: 26,659,452 (GRCm39) F914S possibly damaging Het
Smarca5 A C 8: 81,428,840 (GRCm39) L1003V probably damaging Het
Spata18 A T 5: 73,829,840 (GRCm39) I332F Het
Spata31d1e A G 13: 59,890,806 (GRCm39) V338A probably damaging Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Tbx19 A G 1: 164,966,546 (GRCm39) S443P unknown Het
Tktl2 C G 8: 66,965,840 (GRCm39) A466G probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem129 A G 5: 33,815,122 (GRCm39) V17A probably benign Het
Tom1l2 T C 11: 60,153,486 (GRCm39) T164A probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Trim11 G T 11: 58,878,477 (GRCm39) A251S unknown Het
Trim33 T C 3: 103,239,074 (GRCm39) V684A probably benign Het
Triobp C T 15: 78,877,378 (GRCm39) R1637C probably damaging Het
Trpm3 A G 19: 22,960,040 (GRCm39) N1225S probably benign Het
Usp21 T C 1: 171,112,503 (GRCm39) Y300C probably damaging Het
Usp32 T C 11: 84,913,560 (GRCm39) T924A probably damaging Het
Vmn1r198 A T 13: 22,539,015 (GRCm39) H167L possibly damaging Het
Vmn2r23 A G 6: 123,689,672 (GRCm39) T183A probably benign Het
Zc3h8 T C 2: 128,773,223 (GRCm39) Y213C probably damaging Het
Zcchc17 A T 4: 130,232,337 (GRCm39) D55E probably benign Het
Zfp408 A T 2: 91,478,368 (GRCm39) W26R probably damaging Het
Zfp937 G T 2: 150,080,890 (GRCm39) A307S possibly damaging Het
Other mutations in Tor1aip1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9628:Tor1aip1 UTSW 1 155,893,320 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTACAAAGCTGACACCAGTG -3'
(R):5'- GTGAGCTGCTCTGTACAGTC -3'

Sequencing Primer
(F):5'- TGTCAGGCCACGGTTCAATC -3'
(R):5'- AGCATGTGCTAAGGAGCT -3'
Posted On 2022-07-18