Incidental Mutation 'IGL01633:Appl1'
ID93612
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 #IGL01633
Quality Score
Status
Chromosome14
Chromosomal Location26918988-26971232 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26962838 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
Predicted Effect probably damaging
Transcript: ENSMUST00000036570
AA Change: T85A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: T85A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,444,394 S1868T possibly damaging Het
Abca3 G A 17: 24,397,353 W923* probably null Het
Abca8b A G 11: 109,936,754 M1476T probably damaging Het
Abi3bp T C 16: 56,677,800 F729S probably damaging Het
Acacb T C 5: 114,218,858 probably benign Het
Aldh3a2 A G 11: 61,248,905 L467P probably benign Het
Aspm T A 1: 139,480,836 I2487N possibly damaging Het
Bcl2a1c G A 9: 114,330,222 V23I probably benign Het
C2cd2 T A 16: 97,875,123 probably benign Het
Carmil3 A T 14: 55,494,227 H170L possibly damaging Het
Ccdc141 C T 2: 77,089,249 V305I probably benign Het
Ccdc174 G A 6: 91,880,362 probably null Het
Cep126 T G 9: 8,103,319 Q230P possibly damaging Het
Chrm1 T C 19: 8,678,495 I188T probably benign Het
Depdc5 T C 5: 32,924,200 S569P probably damaging Het
Drc1 G A 5: 30,345,663 E177K probably damaging Het
Duox1 A G 2: 122,333,798 E913G probably benign Het
Fam35a G T 14: 34,249,179 T31K probably damaging Het
Fbxw9 T C 8: 85,064,426 S241P probably damaging Het
Fez2 C A 17: 78,404,718 probably benign Het
Fga G T 3: 83,030,299 R161L possibly damaging Het
Fn3krp G T 11: 121,429,707 G293* probably null Het
Gfra1 C T 19: 58,267,047 E318K probably benign Het
Gli3 C T 13: 15,648,634 P314S probably damaging Het
Gm5114 A T 7: 39,408,066 S710T probably benign Het
Gpr141 T C 13: 19,752,599 D2G probably benign Het
Inppl1 G A 7: 101,833,834 Q63* probably null Het
Lrrc73 T A 17: 46,255,731 V169E possibly damaging Het
Lsm11 C T 11: 45,933,788 R304Q probably benign Het
Macf1 T C 4: 123,502,171 D788G probably damaging Het
Nbas T A 12: 13,483,897 D1844E probably damaging Het
Nt5c A G 11: 115,491,335 F73L probably damaging Het
Osmr A T 15: 6,824,604 I541N probably damaging Het
Phrf1 A G 7: 141,260,500 I1203V probably benign Het
Pram1 C A 17: 33,642,135 P510Q possibly damaging Het
Prepl A G 17: 85,072,016 Y415H probably benign Het
Prss27 A T 17: 24,045,676 H271L probably damaging Het
Ptpn18 A G 1: 34,471,908 S287G probably benign Het
Ptprq T C 10: 107,699,723 probably benign Het
Sars2 A G 7: 28,747,549 K218E probably benign Het
Senp6 G T 9: 80,092,394 S31I probably damaging Het
Skint6 C A 4: 113,238,049 V138F probably damaging Het
Slc4a8 C A 15: 100,787,247 H168N probably damaging Het
Tbx15 T G 3: 99,313,042 I150S probably damaging Het
Tbxas1 A G 6: 38,982,191 N103D probably benign Het
Tmc5 A G 7: 118,623,586 N170D probably damaging Het
Tmem108 A T 9: 103,484,751 N545K probably benign Het
Trub1 A G 19: 57,453,184 K80E possibly damaging Het
Tulp3 A T 6: 128,325,960 Y299N 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
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