Incidental Mutation 'IGL01945:Appl1'
ID 181237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Appl1
Ensembl Gene ENSMUSG00000040760
Gene Name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Synonyms 7330406P05Rik, 2900057D21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL01945
Quality Score
Status
Chromosome 14
Chromosomal Location 26918988-26971232 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26928655 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 520 (V520A)
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
AlphaFold Q8K3H0
Predicted Effect possibly damaging
Transcript: ENSMUST00000036570
AA Change: V520A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: V520A

DomainStartEndE-ValueType
Pfam:BAR_3 7 249 2.6e-66 PFAM
PH 278 377 1.4e-3 SMART
low complexity region 425 434 N/A INTRINSIC
Pfam:PID 501 632 6.6e-12 PFAM
low complexity region 645 660 N/A INTRINSIC
low complexity region 679 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223843
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 has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Acta2 A G 19: 34,251,854 V45A probably benign Het
Adam11 G A 11: 102,772,910 V305M probably damaging Het
Adcy1 A G 11: 7,161,891 K919E probably damaging Het
Afap1l1 T C 18: 61,756,863 T101A probably benign Het
Apbb2 T A 5: 66,400,251 D289V probably damaging Het
Atp5g3 G A 2: 73,910,969 R9C probably benign Het
Atp8a2 A G 14: 60,026,160 L375P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin1 A T 11: 100,970,420 F16Y probably benign Het
Ccdc185 C A 1: 182,748,876 V83L probably benign Het
Ccdc80 T A 16: 45,118,245 S772T probably damaging Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
Coa5 A T 1: 37,429,898 C24S probably damaging Het
Col6a5 A T 9: 105,928,290 V1139D unknown Het
Ddx46 C A 13: 55,655,072 S469* probably null Het
Ep300 A G 15: 81,616,109 probably benign Het
Fcna A T 2: 25,627,835 M1K probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Gtse1 A G 15: 85,871,547 T471A probably benign Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Il1r2 A G 1: 40,102,453 T9A possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Krt75 G A 15: 101,570,164 T345M possibly damaging Het
Myo5a T A 9: 75,140,671 H260Q probably damaging Het
Nckap1l G A 15: 103,461,642 G156D probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Nudt17 A G 3: 96,707,039 I201T probably damaging Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Olfr767 A T 10: 129,079,303 I220N probably damaging Het
Olfr845 A T 9: 19,339,332 S291C probably damaging Het
Padi6 T C 4: 140,741,924 D35G probably benign Het
Plcb1 A T 2: 135,220,791 Y107F probably benign Het
Plek2 T A 12: 78,892,148 H279L probably damaging Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Rbck1 G A 2: 152,318,316 P481L probably damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rngtt T C 4: 33,339,073 W293R probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Slc17a5 G T 9: 78,587,932 D12E probably benign Het
Slco1a5 T A 6: 142,243,989 probably null Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Tgfbr3 A G 5: 107,121,358 probably null Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Trhr T C 15: 44,197,144 V20A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wnt5a A G 14: 28,518,562 N223S probably damaging Het
Other mutations in Appl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Appl1 APN 14 26949476 missense possibly damaging 0.89
IGL01615:Appl1 APN 14 26959470 splice site probably benign
IGL01633:Appl1 APN 14 26962838 missense probably damaging 0.99
IGL02210:Appl1 APN 14 26925952 splice site probably benign
IGL02650:Appl1 APN 14 26950708 missense possibly damaging 0.76
IGL02674:Appl1 APN 14 26949461 missense possibly damaging 0.86
IGL02803:Appl1 APN 14 26951516 missense possibly damaging 0.93
R0129:Appl1 UTSW 14 26928643 missense probably damaging 1.00
R0183:Appl1 UTSW 14 26962854 missense probably damaging 1.00
R0323:Appl1 UTSW 14 26942738 missense possibly damaging 0.91
R0411:Appl1 UTSW 14 26940256 missense probably benign
R1213:Appl1 UTSW 14 26943993 missense probably benign 0.27
R1277:Appl1 UTSW 14 26927856 missense possibly damaging 0.87
R1668:Appl1 UTSW 14 26923854 missense probably damaging 1.00
R1856:Appl1 UTSW 14 26927749 missense probably damaging 1.00
R1889:Appl1 UTSW 14 26925513 splice site probably benign
R2145:Appl1 UTSW 14 26949619 missense possibly damaging 0.66
R3720:Appl1 UTSW 14 26927844 missense probably damaging 1.00
R3722:Appl1 UTSW 14 26927844 missense probably damaging 1.00
R3917:Appl1 UTSW 14 26928604 missense probably damaging 1.00
R4700:Appl1 UTSW 14 26925971 missense probably benign 0.00
R5139:Appl1 UTSW 14 26947155 missense probably benign 0.04
R5485:Appl1 UTSW 14 26962866 missense probably damaging 1.00
R5536:Appl1 UTSW 14 26923780 nonsense probably null
R5795:Appl1 UTSW 14 26942816 missense probably benign 0.01
R7044:Appl1 UTSW 14 26928677 missense possibly damaging 0.90
R7318:Appl1 UTSW 14 26963660 missense probably benign 0.01
R7447:Appl1 UTSW 14 26959452 nonsense probably null
R7943:Appl1 UTSW 14 26945568 missense probably benign 0.01
R8110:Appl1 UTSW 14 26927794 nonsense probably null
R8129:Appl1 UTSW 14 26949509 missense possibly damaging 0.87
R8160:Appl1 UTSW 14 26928635 missense probably benign 0.35
R8211:Appl1 UTSW 14 26945598 missense probably benign 0.18
R8239:Appl1 UTSW 14 26964957 missense probably damaging 0.99
R8379:Appl1 UTSW 14 26925415 critical splice donor site probably null
R8464:Appl1 UTSW 14 26953028 nonsense probably null
R8699:Appl1 UTSW 14 26940255 missense probably benign
R9023:Appl1 UTSW 14 26963695 missense possibly damaging 0.93
R9090:Appl1 UTSW 14 26947127 missense probably benign 0.01
R9203:Appl1 UTSW 14 26961013 nonsense probably null
R9227:Appl1 UTSW 14 26923735 missense unknown
R9230:Appl1 UTSW 14 26923735 missense unknown
R9243:Appl1 UTSW 14 26927753 missense possibly damaging 0.62
R9271:Appl1 UTSW 14 26947127 missense probably benign 0.01
R9378:Appl1 UTSW 14 26927827 nonsense probably null
Posted On 2014-05-07