Incidental Mutation 'R2158:Amotl1'
ID 234988
Institutional Source Beutler Lab
Gene Symbol Amotl1
Ensembl Gene ENSMUSG00000013076
Gene Name angiomotin-like 1
Synonyms 2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik
MMRRC Submission 040161-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R2158 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14453262-14556352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14486465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 476 (N476K)
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: N476K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: N476K

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
AA Change: N513K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,766,608 (GRCm39) V65A possibly damaging Het
4930402F06Rik A T 2: 35,275,680 (GRCm39) S38T possibly damaging Het
Adam4 A G 12: 81,468,537 (GRCm39) L28S probably damaging Het
Agmo T A 12: 37,407,709 (GRCm39) F198I probably damaging Het
Akap7 A G 10: 25,047,062 (GRCm39) V45A probably damaging Het
Apcs A G 1: 172,722,100 (GRCm39) L82P probably damaging Het
Armc3 C A 2: 19,253,444 (GRCm39) P195Q probably damaging Het
Astn2 A T 4: 66,322,491 (GRCm39) L36Q unknown Het
Atad2 A T 15: 57,961,962 (GRCm39) S870T possibly damaging Het
Bmp10 A T 6: 87,411,062 (GRCm39) D285V probably benign Het
Caskin1 T C 17: 24,724,128 (GRCm39) V972A probably benign Het
Ccdc141 T A 2: 76,861,015 (GRCm39) N921Y probably damaging Het
Cntnap5b A T 1: 100,318,297 (GRCm39) D1019V probably damaging Het
Eml5 T C 12: 98,810,205 (GRCm39) probably benign Het
Evi5l T C 8: 4,243,195 (GRCm39) Y360H probably damaging Het
Ewsr1 A G 11: 5,041,450 (GRCm39) probably benign Het
Fn3k A T 11: 121,339,712 (GRCm39) N158I probably damaging Het
Galnt17 C T 5: 130,935,540 (GRCm39) R381Q probably damaging Het
Golga3 A T 5: 110,335,227 (GRCm39) K180N probably damaging Het
Hipk1 A G 3: 103,667,854 (GRCm39) L571P probably damaging Het
Hormad2 T A 11: 4,374,808 (GRCm39) K69* probably null Het
Hspg2 A T 4: 137,244,915 (GRCm39) D880V probably damaging Het
Ido2 T A 8: 25,030,652 (GRCm39) D226V probably damaging Het
Irs3 A G 5: 137,642,961 (GRCm39) F159S probably damaging Het
Itgb1bp1 T C 12: 21,326,860 (GRCm39) T38A probably damaging Het
Kif11 A G 19: 37,399,062 (GRCm39) I749V probably benign Het
Lrp1b T G 2: 40,769,567 (GRCm39) M2811L probably benign Het
Lysmd3 A G 13: 81,817,737 (GRCm39) Y238C probably damaging Het
Mapk11 G A 15: 89,030,575 (GRCm39) T106M probably damaging Het
Mdga2 C T 12: 66,736,155 (GRCm39) V358I possibly damaging Het
Muc4 C T 16: 32,754,563 (GRCm38) T1479I probably benign Het
Myom1 T C 17: 71,371,592 (GRCm39) V578A possibly damaging Het
Nek10 T G 14: 14,885,047 (GRCm38) probably null Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or2t47 T A 11: 58,442,768 (GRCm39) Q99L probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or51a24 T G 7: 103,734,033 (GRCm39) T85P probably benign Het
Or51v14 G C 7: 103,261,443 (GRCm39) T39R possibly damaging Het
Or52a5b G T 7: 103,417,168 (GRCm39) C145* probably null Het
Or8d23 T C 9: 38,841,875 (GRCm39) M136T probably damaging Het
Pde4dip A T 3: 97,664,937 (GRCm39) C333S probably benign Het
Pglyrp2 T A 17: 32,637,222 (GRCm39) I269F probably benign Het
Plch1 A G 3: 63,628,655 (GRCm39) V536A probably benign Het
Popdc2 T A 16: 38,183,188 (GRCm39) L57Q probably damaging Het
Pramel14 T C 4: 143,720,885 (GRCm39) R19G possibly damaging Het
Riox1 A G 12: 83,997,709 (GRCm39) K82E probably benign Het
Rnasel G A 1: 153,630,647 (GRCm39) V388M probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Snx25 A G 8: 46,494,444 (GRCm39) S814P probably damaging Het
Spta1 A T 1: 174,056,824 (GRCm39) H1859L probably benign Het
Strc T C 2: 121,196,343 (GRCm39) I1562V probably benign Het
Taar5 T A 10: 23,846,986 (GRCm39) I128N probably damaging Het
Ttc28 C T 5: 111,325,483 (GRCm39) probably benign Het
Vcan A T 13: 89,851,648 (GRCm39) M1104K possibly damaging Het
Vnn1 C T 10: 23,776,653 (GRCm39) Q335* probably null Het
Zic1 T C 9: 91,246,946 (GRCm39) D42G possibly 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
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
Predicted Primers PCR Primer
(F):5'- GACAGGCCATCAGACTCCTAAG -3'
(R):5'- ATAGCCCCATGTCCTCTCAGAC -3'

Sequencing Primer
(F):5'- AAGAGCTCTCTGATACATCCTGTGG -3'
(R):5'- CATCGGTGGTACTCTGCAC -3'
Posted On 2014-10-01