Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Appl1'

93612

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: 0.185) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

26918988-26971232 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26962838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 85 (T85A)

Ref Sequence

ENSEMBL: ENSMUSP00000042875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036570]

AlphaFold

Q8K3H0

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2013-12-09