Incidental Mutation 'IGL02803:Appl1'
ID 360299
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
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL02803
Quality Score
Status
Chromosome 14
Chromosomal Location 26640943-26692567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26673473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 208 (I208T)
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
AlphaFold Q8K3H0
Predicted Effect possibly damaging
Transcript: ENSMUST00000036570
AA Change: I208T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: I208T

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: ENSMUST00000142645
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,302,480 (GRCm39) L106F probably benign Het
Arap2 G T 5: 62,906,452 (GRCm39) A189D probably benign Het
Arhgef12 T C 9: 42,883,324 (GRCm39) K1402E possibly damaging Het
C7 A C 15: 5,079,042 (GRCm39) F89V probably damaging Het
Camsap2 G A 1: 136,208,861 (GRCm39) T877I probably damaging Het
Cpt2 T C 4: 107,764,583 (GRCm39) T394A probably benign Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnah10 C A 5: 124,875,078 (GRCm39) T2528N probably damaging Het
Entpd8 G T 2: 24,975,151 (GRCm39) W494L probably damaging Het
Fam114a1 T A 5: 65,163,135 (GRCm39) probably benign Het
Fat4 T C 3: 38,943,444 (GRCm39) V779A probably damaging Het
Gckr T C 5: 31,455,548 (GRCm39) S34P probably damaging Het
Golga4 T C 9: 118,364,528 (GRCm39) V297A probably benign Het
Gpr65 T C 12: 98,241,469 (GRCm39) S41P probably damaging Het
Gps1 G T 11: 120,677,649 (GRCm39) A221S probably damaging Het
Heatr1 T A 13: 12,448,867 (GRCm39) S1861T probably damaging Het
Hmces A G 6: 87,902,711 (GRCm39) E184G probably damaging Het
Itfg1 T C 8: 86,452,140 (GRCm39) probably null Het
Mrtfb C T 16: 13,221,020 (GRCm39) T743I possibly damaging Het
Nfe2l3 A G 6: 51,434,291 (GRCm39) S284G possibly damaging Het
Nlrp2 C A 7: 5,331,317 (GRCm39) A360S probably damaging Het
Nop9 A G 14: 55,987,533 (GRCm39) H298R probably benign Het
Or5an1 A T 19: 12,261,347 (GRCm39) S312C possibly damaging Het
Or5h17 T A 16: 58,820,321 (GRCm39) V91E probably benign Het
Or6ae1 T C 7: 139,742,287 (GRCm39) D192G possibly damaging Het
Osgin1 A G 8: 120,170,006 (GRCm39) M158V probably benign Het
Patj C A 4: 98,314,301 (GRCm39) Q374K probably damaging Het
Pck1 G T 2: 172,997,797 (GRCm39) G289W probably damaging Het
Phkg1 T G 5: 129,894,895 (GRCm39) I219L possibly damaging Het
Ppp1r15b G A 1: 133,061,081 (GRCm39) A533T probably damaging Het
Ppwd1 T C 13: 104,350,192 (GRCm39) I398V probably benign Het
Prkdc A G 16: 15,651,530 (GRCm39) probably benign Het
Psg25 G A 7: 18,260,212 (GRCm39) L229F possibly damaging Het
Rps6ka1 T A 4: 133,608,265 (GRCm39) Q24L probably benign Het
Sgk3 T C 1: 9,949,273 (GRCm39) I147T possibly damaging Het
Slc25a24 T A 3: 109,062,387 (GRCm39) I159N probably damaging Het
Slc26a4 T C 12: 31,572,526 (GRCm39) probably null Het
Slc35f4 T C 14: 49,541,714 (GRCm39) I347V probably benign Het
Spag17 A T 3: 100,016,713 (GRCm39) M2163L probably benign Het
Stab2 C T 10: 86,786,133 (GRCm39) probably benign Het
Sult2a8 G A 7: 14,145,630 (GRCm39) probably benign Het
Syne2 T C 12: 76,078,320 (GRCm39) L4718P probably damaging Het
Timd4 G T 11: 46,706,521 (GRCm39) G108W probably damaging Het
Timm9 T C 12: 71,173,148 (GRCm39) probably benign Het
Vmn2r98 G A 17: 19,286,275 (GRCm39) V258I probably benign Het
Zcchc9 C T 13: 91,949,000 (GRCm39) V174I probably benign Het
Zdbf2 T C 1: 63,342,236 (GRCm39) V205A possibly damaging Het
Other mutations in Appl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Appl1 APN 14 26,671,433 (GRCm39) missense possibly damaging 0.89
IGL01615:Appl1 APN 14 26,681,427 (GRCm39) splice site probably benign
IGL01633:Appl1 APN 14 26,684,795 (GRCm39) missense probably damaging 0.99
IGL01945:Appl1 APN 14 26,650,612 (GRCm39) missense possibly damaging 0.80
IGL02210:Appl1 APN 14 26,647,909 (GRCm39) splice site probably benign
IGL02650:Appl1 APN 14 26,672,665 (GRCm39) missense possibly damaging 0.76
IGL02674:Appl1 APN 14 26,671,418 (GRCm39) missense possibly damaging 0.86
R0129:Appl1 UTSW 14 26,650,600 (GRCm39) missense probably damaging 1.00
R0183:Appl1 UTSW 14 26,684,811 (GRCm39) missense probably damaging 1.00
R0323:Appl1 UTSW 14 26,664,695 (GRCm39) missense possibly damaging 0.91
R0411:Appl1 UTSW 14 26,662,213 (GRCm39) missense probably benign
R1213:Appl1 UTSW 14 26,665,950 (GRCm39) missense probably benign 0.27
R1277:Appl1 UTSW 14 26,649,813 (GRCm39) missense possibly damaging 0.87
R1668:Appl1 UTSW 14 26,645,811 (GRCm39) missense probably damaging 1.00
R1856:Appl1 UTSW 14 26,649,706 (GRCm39) missense probably damaging 1.00
R1889:Appl1 UTSW 14 26,647,470 (GRCm39) splice site probably benign
R2145:Appl1 UTSW 14 26,671,576 (GRCm39) missense possibly damaging 0.66
R3720:Appl1 UTSW 14 26,649,801 (GRCm39) missense probably damaging 1.00
R3722:Appl1 UTSW 14 26,649,801 (GRCm39) missense probably damaging 1.00
R3917:Appl1 UTSW 14 26,650,561 (GRCm39) missense probably damaging 1.00
R4700:Appl1 UTSW 14 26,647,928 (GRCm39) missense probably benign 0.00
R5139:Appl1 UTSW 14 26,669,112 (GRCm39) missense probably benign 0.04
R5485:Appl1 UTSW 14 26,684,823 (GRCm39) missense probably damaging 1.00
R5536:Appl1 UTSW 14 26,645,737 (GRCm39) nonsense probably null
R5795:Appl1 UTSW 14 26,664,773 (GRCm39) missense probably benign 0.01
R7044:Appl1 UTSW 14 26,650,634 (GRCm39) missense possibly damaging 0.90
R7318:Appl1 UTSW 14 26,685,617 (GRCm39) missense probably benign 0.01
R7447:Appl1 UTSW 14 26,681,409 (GRCm39) nonsense probably null
R7943:Appl1 UTSW 14 26,667,525 (GRCm39) missense probably benign 0.01
R8110:Appl1 UTSW 14 26,649,751 (GRCm39) nonsense probably null
R8129:Appl1 UTSW 14 26,671,466 (GRCm39) missense possibly damaging 0.87
R8160:Appl1 UTSW 14 26,650,592 (GRCm39) missense probably benign 0.35
R8211:Appl1 UTSW 14 26,667,555 (GRCm39) missense probably benign 0.18
R8239:Appl1 UTSW 14 26,686,914 (GRCm39) missense probably damaging 0.99
R8379:Appl1 UTSW 14 26,647,372 (GRCm39) critical splice donor site probably null
R8464:Appl1 UTSW 14 26,674,985 (GRCm39) nonsense probably null
R8699:Appl1 UTSW 14 26,662,212 (GRCm39) missense probably benign
R9023:Appl1 UTSW 14 26,685,652 (GRCm39) missense possibly damaging 0.93
R9090:Appl1 UTSW 14 26,669,084 (GRCm39) missense probably benign 0.01
R9203:Appl1 UTSW 14 26,682,970 (GRCm39) nonsense probably null
R9227:Appl1 UTSW 14 26,645,692 (GRCm39) missense unknown
R9230:Appl1 UTSW 14 26,645,692 (GRCm39) missense unknown
R9243:Appl1 UTSW 14 26,649,710 (GRCm39) missense possibly damaging 0.62
R9271:Appl1 UTSW 14 26,669,084 (GRCm39) missense probably benign 0.01
R9378:Appl1 UTSW 14 26,649,784 (GRCm39) nonsense probably null
Posted On 2015-12-18