Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Appl1'

307377

Institutional Source

Beutler Lab

Gene Symbol

Appl1

Ensembl Gene

ENSMUSG00000040760

Gene Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Synonyms

7330406P05Rik, 2900057D21Rik

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26640943-26692567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26650561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 537 (F537Y)

Ref Sequence

ENSEMBL: ENSMUSP00000042875 (fasta)

Gene Model

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

AlphaFold

Q8K3H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036570
AA Change: F537Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: F537Y

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: ENSMUST00000223843

Meta Mutation Damage Score

0.3038

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Apol11b	A	G	15: 77,519,504 (GRCm39)	I192T	probably benign	Het
Atad5	A	C	11: 79,994,120 (GRCm39)	K785N	probably null	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Bcam	T	C	7: 19,499,375 (GRCm39)	Y216C	probably damaging	Het
Brca2	A	G	5: 150,464,292 (GRCm39)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,561,453 (GRCm39)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,907,366 (GRCm39)		probably null	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,441,940 (GRCm39)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,933,719 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,711,258 (GRCm39)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,886,189 (GRCm39)	D142G	probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,473,379 (GRCm39)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Gm1043	G	A	5: 37,350,285 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,806,760 (GRCm39)	F144L	probably benign	Het
Gm21961	A	T	15: 64,886,733 (GRCm39)	D7E	unknown	Het
Gtf3a	A	G	5: 146,892,244 (GRCm39)	K332E	probably benign	Het
Haao	A	G	17: 84,146,228 (GRCm39)		probably null	Het
Habp2	T	A	19: 56,299,611 (GRCm39)	C170S	probably damaging	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Herc1	T	G	9: 66,341,748 (GRCm39)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 119,956,624 (GRCm39)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,286,625 (GRCm39)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,012,449 (GRCm39)		probably benign	Het
Jund	C	T	8: 71,151,673 (GRCm39)		probably benign	Het
Klra14-ps	T	C	6: 130,134,595 (GRCm39)		noncoding transcript	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myd88	T	C	9: 119,170,464 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,557,404 (GRCm39)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,060,002 (GRCm39)	Y33H	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Or10al2	T	A	17: 37,983,684 (GRCm39)	F257I	probably damaging	Het
Or8b37	A	T	9: 37,958,841 (GRCm39)	I108F	probably damaging	Het
Patj	A	T	4: 98,480,245 (GRCm39)	K1317*	probably null	Het
Pld5	A	G	1: 175,791,504 (GRCm39)	S501P	probably benign	Het
Pnpo	A	G	11: 96,830,583 (GRCm39)	V146A	probably damaging	Het
Ppdpf	A	G	2: 180,829,521 (GRCm39)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,441,785 (GRCm39)	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,788 (GRCm39)	D294G	probably benign	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Shank3	A	G	15: 89,387,587 (GRCm39)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,899,899 (GRCm39)		probably null	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a5	T	C	7: 49,561,617 (GRCm39)	S50P	probably damaging	Het
Slfn8	A	T	11: 82,907,819 (GRCm39)	Y241*	probably null	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,008 (GRCm39)	D82E	probably benign	Het
Spx	A	C	6: 142,359,757 (GRCm39)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,860,976 (GRCm39)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,950,214 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Trip6	A	G	5: 137,311,941 (GRCm39)	C47R	probably benign	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,223,630 (GRCm39)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,464,620 (GRCm39)	F557L	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,108,039 (GRCm39)		probably benign	Het
Zic4	C	A	9: 91,266,394 (GRCm39)		probably benign	Het

Other mutations in Appl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02803:Appl1	APN	14	26,673,473 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- ACATAGGACCAGGTTATCATCAAAC -3'
(R):5'- ATGTATTGTGAGTTAAGGCCAACC -3'

Sequencing Primer
(F):5'- TTGGGTCTGCGGATCAAT -3'
(R):5'- GCCAACCTGTGCTGCAAAAATAG -3'

Posted On

2015-04-17