Incidental Mutation 'IGL02157:Amotl1'
ID 282288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amotl1
Ensembl Gene ENSMUSG00000013076
Gene Name angiomotin-like 1
Synonyms 2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02157
Quality Score
Status
Chromosome 9
Chromosomal Location 14453262-14556352 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 14483011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013220] [ENSMUST00000223132]
AlphaFold Q9D4H4
Predicted Effect probably benign
Transcript: ENSMUST00000013220
SMART Domains Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076

DomainStartEndE-ValueType
low complexity region 203 224 N/A INTRINSIC
low complexity region 418 441 N/A INTRINSIC
coiled coil region 449 472 N/A INTRINSIC
Blast:PAC 491 532 1e-10 BLAST
low complexity region 562 575 N/A INTRINSIC
Pfam:Angiomotin_C 616 822 4.4e-96 PFAM
low complexity region 853 878 N/A INTRINSIC
low complexity region 881 895 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160770
SMART Domains Protein: ENSMUSP00000124281
Gene: ENSMUSG00000013076

DomainStartEndE-ValueType
low complexity region 117 138 N/A INTRINSIC
low complexity region 332 355 N/A INTRINSIC
coiled coil region 363 386 N/A INTRINSIC
Blast:PAC 405 446 1e-10 BLAST
low complexity region 476 489 N/A INTRINSIC
Pfam:Angiomotin_C 530 738 5.2e-95 PFAM
low complexity region 767 792 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223132
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,855,487 (GRCm39) probably benign Het
Amph A T 13: 19,288,401 (GRCm39) T297S possibly damaging Het
Arhgap31 A G 16: 38,444,263 (GRCm39) V198A probably damaging Het
Bop1 T C 15: 76,339,772 (GRCm39) D216G possibly damaging Het
Cdh13 T C 8: 119,232,410 (GRCm39) I38T possibly damaging Het
Clmn T C 12: 104,748,177 (GRCm39) T457A probably benign Het
Clstn2 A C 9: 97,423,928 (GRCm39) M279R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fam83h A T 15: 75,876,904 (GRCm39) V208E probably damaging Het
Fer A G 17: 64,445,894 (GRCm39) N785S probably benign Het
Fnip1 T C 11: 54,378,589 (GRCm39) L225P probably damaging Het
Gbp11 C T 5: 105,475,374 (GRCm39) V325M possibly damaging Het
Glis1 A G 4: 107,484,758 (GRCm39) T418A probably benign Het
Hook2 C T 8: 85,727,779 (GRCm39) probably benign Het
Hoxa6 C A 6: 52,185,171 (GRCm39) C145F possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mbd5 T C 2: 49,168,987 (GRCm39) V1156A probably benign Het
Mon2 G A 10: 122,849,377 (GRCm39) P1308S probably damaging Het
Mta2 T A 19: 8,924,613 (GRCm39) probably benign Het
Nup188 T A 2: 30,219,385 (GRCm39) L867* probably null Het
Oca2 G A 7: 55,974,545 (GRCm39) probably null Het
Or13a22 T A 7: 140,072,847 (GRCm39) C99S probably damaging Het
Or6c88 A G 10: 129,407,019 (GRCm39) E165G probably damaging Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Plekhh2 A G 17: 84,874,370 (GRCm39) probably benign Het
Pramel22 A T 4: 143,380,947 (GRCm39) C359S probably damaging Het
Rhbdd3 T C 11: 5,055,424 (GRCm39) probably benign Het
Timeless T A 10: 128,078,255 (GRCm39) V255E probably benign Het
Tmt1b T G 10: 128,796,486 (GRCm39) T108P possibly damaging Het
Trh A T 6: 92,219,948 (GRCm39) S123T probably benign Het
Ugdh C T 5: 65,580,035 (GRCm39) A252T probably damaging Het
Zfp619 A G 7: 39,184,288 (GRCm39) Y106C probably damaging Het
Zic5 G A 14: 122,696,924 (GRCm39) P564S unknown Het
Other mutations in Amotl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Amotl1 APN 9 14,460,087 (GRCm39) missense probably benign 0.34
R0071:Amotl1 UTSW 9 14,460,069 (GRCm39) missense probably benign 0.25
R0071:Amotl1 UTSW 9 14,460,069 (GRCm39) missense probably benign 0.25
R0094:Amotl1 UTSW 9 14,486,683 (GRCm39) missense probably benign 0.12
R0094:Amotl1 UTSW 9 14,486,683 (GRCm39) missense probably benign 0.12
R0178:Amotl1 UTSW 9 14,460,069 (GRCm39) missense probably benign 0.25
R0179:Amotl1 UTSW 9 14,460,069 (GRCm39) missense probably benign 0.25
R0853:Amotl1 UTSW 9 14,504,074 (GRCm39) missense probably damaging 0.99
R0941:Amotl1 UTSW 9 14,507,854 (GRCm39) missense possibly damaging 0.90
R1447:Amotl1 UTSW 9 14,467,038 (GRCm39) missense probably benign
R1689:Amotl1 UTSW 9 14,504,518 (GRCm39) missense probably damaging 0.99
R1692:Amotl1 UTSW 9 14,463,018 (GRCm39) missense possibly damaging 0.94
R1858:Amotl1 UTSW 9 14,486,697 (GRCm39) missense probably benign 0.34
R2158:Amotl1 UTSW 9 14,486,465 (GRCm39) missense probably benign 0.00
R2184:Amotl1 UTSW 9 14,486,686 (GRCm39) missense probably benign 0.00
R3040:Amotl1 UTSW 9 14,484,069 (GRCm39) missense probably benign 0.42
R4226:Amotl1 UTSW 9 14,504,974 (GRCm39) missense probably benign 0.00
R4776:Amotl1 UTSW 9 14,504,669 (GRCm39) nonsense probably null
R4854:Amotl1 UTSW 9 14,504,747 (GRCm39) nonsense probably null
R5283:Amotl1 UTSW 9 14,469,780 (GRCm39) missense probably damaging 1.00
R5478:Amotl1 UTSW 9 14,504,048 (GRCm39) critical splice donor site probably null
R5562:Amotl1 UTSW 9 14,486,593 (GRCm39) missense possibly damaging 0.56
R5970:Amotl1 UTSW 9 14,507,824 (GRCm39) missense probably damaging 1.00
R6265:Amotl1 UTSW 9 14,482,951 (GRCm39) missense possibly damaging 0.93
R6974:Amotl1 UTSW 9 14,556,216 (GRCm39) nonsense probably null
R7016:Amotl1 UTSW 9 14,504,995 (GRCm39) missense probably damaging 0.99
R7058:Amotl1 UTSW 9 14,486,532 (GRCm39) missense possibly damaging 0.94
R7317:Amotl1 UTSW 9 14,486,515 (GRCm39) missense probably benign 0.02
R7730:Amotl1 UTSW 9 14,467,059 (GRCm39) missense possibly damaging 0.53
R7994:Amotl1 UTSW 9 14,504,657 (GRCm39) missense probably damaging 0.98
R7996:Amotl1 UTSW 9 14,505,001 (GRCm39) missense possibly damaging 0.94
R8077:Amotl1 UTSW 9 14,461,798 (GRCm39) missense probably damaging 1.00
R8116:Amotl1 UTSW 9 14,466,868 (GRCm39) critical splice donor site probably null
R8140:Amotl1 UTSW 9 14,484,011 (GRCm39) splice site probably null
R8362:Amotl1 UTSW 9 14,556,218 (GRCm39) missense probably benign 0.26
R8364:Amotl1 UTSW 9 14,556,218 (GRCm39) missense probably benign 0.26
R8526:Amotl1 UTSW 9 14,473,492 (GRCm39) missense probably damaging 1.00
R8855:Amotl1 UTSW 9 14,466,869 (GRCm39) critical splice donor site probably null
R8904:Amotl1 UTSW 9 14,469,861 (GRCm39) missense probably damaging 1.00
R9179:Amotl1 UTSW 9 14,461,787 (GRCm39) missense possibly damaging 0.89
R9228:Amotl1 UTSW 9 14,504,320 (GRCm39) missense possibly damaging 0.69
R9361:Amotl1 UTSW 9 14,504,677 (GRCm39) missense probably benign 0.03
R9513:Amotl1 UTSW 9 14,526,063 (GRCm39) missense probably benign
R9563:Amotl1 UTSW 9 14,473,513 (GRCm39) missense possibly damaging 0.95
R9564:Amotl1 UTSW 9 14,473,513 (GRCm39) missense possibly damaging 0.95
R9620:Amotl1 UTSW 9 14,459,969 (GRCm39) missense probably damaging 1.00
R9654:Amotl1 UTSW 9 14,462,981 (GRCm39) missense probably benign 0.19
R9750:Amotl1 UTSW 9 14,504,102 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16