Incidental Mutation 'R9750:Amotl1'
ID 732470
Institutional Source Beutler Lab
Gene Symbol Amotl1
Ensembl Gene ENSMUSG00000013076
Gene Name angiomotin-like 1
Synonyms 2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R9750 (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 14504102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 369 (T369S)
Ref Sequence ENSEMBL: ENSMUSP00000013220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013220] [ENSMUST00000162901] [ENSMUST00000223132]
AlphaFold Q9D4H4
Predicted Effect probably benign
Transcript: ENSMUST00000013220
AA Change: T369S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: T369S

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: ENSMUST00000162901
Predicted Effect probably benign
Transcript: ENSMUST00000162901
Predicted Effect probably benign
Transcript: ENSMUST00000223132
AA Change: T406S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 G T 11: 50,494,333 (GRCm39) V136L probably benign Het
Adamtsl3 G T 7: 82,244,589 (GRCm39) L1348F probably benign Het
Anapc2 T G 2: 25,174,982 (GRCm39) V700G possibly damaging Het
Aox3 C T 1: 58,215,648 (GRCm39) Q1027* probably null Het
Ap5m1 A G 14: 49,317,756 (GRCm39) T338A probably benign Het
Carf T A 1: 60,171,158 (GRCm39) Y240* probably null Het
Ccl21a G A 4: 42,773,875 (GRCm39) A15V probably benign Het
Dcst1 A T 3: 89,261,462 (GRCm39) I429N probably damaging Het
Esco1 A G 18: 10,594,510 (GRCm39) S259P probably benign Het
Esp15 A G 17: 39,955,603 (GRCm39) M57V probably benign Het
Fat3 A G 9: 15,915,157 (GRCm39) I1597T probably benign Het
Fbxo38 T C 18: 62,674,061 (GRCm39) S7G probably benign Het
Gm11562 G A 11: 99,510,856 (GRCm39) P115S unknown Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Kansl1l G C 1: 66,817,150 (GRCm39) I403M probably benign Het
Kmt2a T C 9: 44,747,499 (GRCm39) H1505R unknown Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lpgat1 T A 1: 191,510,587 (GRCm39) F391I probably benign Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mon1a T A 9: 107,778,778 (GRCm39) V334E probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nup210l A T 3: 90,117,659 (GRCm39) probably null Het
Obscn G A 11: 59,024,682 (GRCm39) R453W probably benign Het
Or1d2 A G 11: 74,255,858 (GRCm39) D121G possibly damaging Het
Pdzd8 A G 19: 59,289,684 (GRCm39) V572A probably benign Het
Pgr T C 9: 8,901,918 (GRCm39) S484P possibly damaging Het
Pygl G T 12: 70,245,303 (GRCm39) S473R possibly damaging Het
Samd1 T C 8: 84,725,989 (GRCm39) V410A probably damaging Het
Serpina3j T G 12: 104,280,942 (GRCm39) H38Q probably benign Het
Shprh A G 10: 11,040,204 (GRCm39) Y559C probably damaging Het
Skint5 T A 4: 113,727,866 (GRCm39) D426V unknown Het
Slc25a21 T C 12: 56,785,382 (GRCm39) K158R probably benign Het
Smc1b A T 15: 85,016,106 (GRCm39) N11K probably damaging Het
St18 T C 1: 6,873,216 (GRCm39) V317A probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tcap A G 11: 98,275,228 (GRCm39) T121A probably benign Het
Tgs1 C A 4: 3,585,869 (GRCm39) Q249K probably damaging Het
Tiam1 A T 16: 89,695,394 (GRCm39) L21Q probably damaging Het
Tmem131l G A 3: 83,831,358 (GRCm39) A858V probably damaging Het
Trpm3 G A 19: 22,903,495 (GRCm39) R927H probably benign Het
Wdfy3 T A 5: 102,077,960 (GRCm39) H870L probably benign Het
Zfp518a T A 19: 40,903,889 (GRCm39) C1273S possibly damaging Het
Zfp960 A T 17: 17,307,898 (GRCm39) H204L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAGCTGCCCTCTGCTAAGAATG -3'
(R):5'- CAGCTCAGCCTGTCTGTAAAG -3'

Sequencing Primer
(F):5'- TGCCCTCTGCTAAGAATGGAAGAC -3'
(R):5'- AGCCTGTCTGTAAAGCACTG -3'
Posted On 2022-11-14