Incidental Mutation 'IGL01638:Ajap1'
ID93150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ajap1
Ensembl Gene ENSMUSG00000039546
Gene Nameadherens junction associated protein 1
SynonymsLOC230959
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01638
Quality Score
Status
Chromosome4
Chromosomal Location153373221-153482811 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153432236 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 216 (V216A)
Ref Sequence ENSEMBL: ENSMUSP00000101271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105646] [ENSMUST00000149177]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105646
AA Change: V216A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: V216A

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
low complexity region 51 62 N/A INTRINSIC
low complexity region 121 146 N/A INTRINSIC
Pfam:AJAP1_PANP_C 181 389 1.6e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149177
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in Ajap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Ajap1 APN 4 153386481 missense probably damaging 0.99
IGL01607:Ajap1 APN 4 153432279 missense probably damaging 0.99
IGL02248:Ajap1 APN 4 153432111 missense possibly damaging 0.50
IGL02888:Ajap1 APN 4 153432261 missense probably benign 0.32
R0924:Ajap1 UTSW 4 153386472 missense probably damaging 1.00
R2905:Ajap1 UTSW 4 153432827 missense probably benign 0.11
R5607:Ajap1 UTSW 4 153432204 missense possibly damaging 0.65
R5875:Ajap1 UTSW 4 153432341 missense probably damaging 1.00
R6060:Ajap1 UTSW 4 153432242 missense probably damaging 1.00
R7476:Ajap1 UTSW 4 153384855 missense probably damaging 1.00
X0028:Ajap1 UTSW 4 153432300 missense probably damaging 0.99
Posted On2013-12-09