Incidental Mutation 'R7317:Amotl1'
ID 563474
Institutional Source Beutler Lab
Gene Symbol Amotl1
Ensembl Gene ENSMUSG00000013076
Gene Name angiomotin-like 1
Synonyms 2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik
MMRRC Submission 045369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 14453262-14556352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14486515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 460 (T460S)
Ref Sequence ENSEMBL: ENSMUSP00000013220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013220] [ENSMUST00000223132]
AlphaFold Q9D4H4
Predicted Effect probably benign
Transcript: ENSMUST00000013220
AA Change: T460S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: T460S

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 probably benign
Transcript: ENSMUST00000223132
AA Change: T497S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Alg5 G T 3: 54,656,752 (GRCm39) R321L probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Cluh A G 11: 74,556,530 (GRCm39) D956G possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Ercc4 T C 16: 12,939,977 (GRCm39) V169A probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Stau2 T A 1: 16,530,553 (GRCm39) H122L unknown Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc5c T A 3: 141,495,703 (GRCm39) M524K probably benign Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Amotl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Amotl1 APN 9 14,483,011 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGCTCTCTGATACATCCTGTGGC -3'
(R):5'- TTCCATCTACGGTGCAGCAG -3'

Sequencing Primer
(F):5'- CTGTGGCTCAGAAATTAATCCC -3'
(R):5'- GCAGCATAGCCCCATGTC -3'
Posted On 2019-06-26