Incidental Mutation 'IGL01615:Appl1'
ID92379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Appl1
Ensembl Gene ENSMUSG00000040760
Gene Nameadaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Synonyms7330406P05Rik, 2900057D21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL01615
Quality Score
Status
Chromosome14
Chromosomal Location26918988-26971232 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 26959470 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
Predicted Effect probably benign
Transcript: ENSMUST00000036570
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760

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: ENSMUST00000141599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224406
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,128,477 T906A probably damaging Het
Akap13 A G 7: 75,697,393 S1731G probably damaging Het
Apbb2 A G 5: 66,307,701 V650A probably benign Het
Avpr1b T G 1: 131,600,147 V136G probably damaging Het
B020004J07Rik T A 4: 101,837,004 R227S possibly damaging Het
C6 T C 15: 4,781,896 F409L probably benign Het
Cdk20 A G 13: 64,436,310 probably benign Het
Cenpf T C 1: 189,653,184 K2300E possibly damaging Het
Cfap57 C T 4: 118,600,796 R399Q probably damaging Het
Cnnm1 A T 19: 43,471,936 S706C probably benign Het
Cr1l T C 1: 195,129,881 I45V possibly damaging Het
D130043K22Rik A T 13: 24,899,796 R1081S probably damaging Het
Ddx60 A T 8: 61,963,740 H573L probably null Het
Eif5b T C 1: 38,045,706 L878S probably damaging Het
Ets1 T C 9: 32,732,939 probably benign Het
Evi5 A G 5: 107,764,707 L696P probably damaging Het
Fbxo18 C A 2: 11,757,523 E12* probably null Het
Gabpb1 C A 2: 126,653,600 M77I possibly damaging Het
Glul T A 1: 153,906,476 N152K probably benign Het
Gm45234 T C 6: 124,746,431 Y613C probably damaging Het
Gm5611 A G 9: 17,030,351 noncoding transcript Het
Gm6583 A G 5: 112,355,830 S3P possibly damaging Het
Gpr156 T A 16: 37,988,591 I225K probably damaging Het
Herc4 T C 10: 63,290,682 probably benign Het
Iqsec3 C T 6: 121,410,621 V720M probably damaging Het
Itgam A T 7: 128,116,767 H1104L possibly damaging Het
Itgb3 T A 11: 104,643,965 D549E probably damaging Het
Kctd7 A T 5: 130,148,135 M76L probably damaging Het
Kdm3b T G 18: 34,829,231 N1523K probably damaging Het
Map3k12 T A 15: 102,503,751 E318D probably damaging Het
Mc1r T C 8: 123,408,050 Y181H probably damaging Het
Mex3c G A 18: 73,573,632 A197T unknown Het
Mvk A G 5: 114,446,292 D71G probably benign Het
Ndufb3 T A 1: 58,595,753 L88* probably null Het
Olfr476 A G 7: 107,967,937 D180G probably damaging Het
Olfr684 A G 7: 105,157,460 V74A probably benign Het
Pifo G T 3: 105,997,207 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Slc5a3 C T 16: 92,079,112 Q686* probably null Het
Vmn2r75 T C 7: 86,148,473 I711V probably benign Het
Vps13c T A 9: 67,955,781 H3026Q probably benign Het
Zfp354c A G 11: 50,817,905 S22P possibly damaging Het
Other mutations in Appl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Appl1 APN 14 26949476 missense possibly damaging 0.89
IGL01633:Appl1 APN 14 26962838 missense probably damaging 0.99
IGL01945:Appl1 APN 14 26928655 missense possibly damaging 0.80
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
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
Posted On2013-12-09