Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00337:Ap1ar'

332327

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1ar

Ensembl Gene

ENSMUSG00000074238

Gene Name

adaptor-related protein complex 1 associated regulatory protein

Synonyms

Gadkin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00337

Quality Score

Status

Chromosome

Chromosomal Location

127600656-127631148 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 127614401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051737] [ENSMUST00000196392] [ENSMUST00000200409]

AlphaFold

E9PYF7

Predicted Effect

probably benign
Transcript: ENSMUST00000051737

SMART Domains

Protein: ENSMUSP00000059669
Gene: ENSMUSG00000074238

Domain	Start	End	E-Value	Type
Pfam:AP1AR	24	298	3.5e-152	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166778

Predicted Effect

probably benign
Transcript: ENSMUST00000196392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199901

Predicted Effect

probably benign
Transcript: ENSMUST00000200409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200238

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	A	T	2: 102,922,257 (GRCm39)	T208S	probably benign	Het
Arhgap11a	A	G	2: 113,672,287 (GRCm39)	V227A	probably damaging	Het
Atrn	G	T	2: 130,799,999 (GRCm39)	V459F	probably damaging	Het
Cep295	T	C	9: 15,237,368 (GRCm39)		probably null	Het
Cfhr1	A	G	1: 139,484,253 (GRCm39)		probably benign	Het
D5Ertd615e	A	G	5: 45,320,769 (GRCm39)		noncoding transcript	Het
Dhx29	A	G	13: 113,101,137 (GRCm39)	I1227V	probably benign	Het
Fam98a	T	C	17: 75,858,742 (GRCm39)	D16G	probably damaging	Het
Frk	A	G	10: 34,360,239 (GRCm39)	D80G	probably damaging	Het
Gabbr2	A	T	4: 46,787,600 (GRCm39)	H354Q	probably damaging	Het
Ggps1	G	A	13: 14,228,973 (GRCm39)	S70L	probably damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Hpx	T	C	7: 105,240,977 (GRCm39)	Y432C	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Il10rb	G	A	16: 91,203,227 (GRCm39)	A8T	probably benign	Het
Ing5	G	T	1: 93,733,816 (GRCm39)	M1I	probably null	Het
Kcnc4	C	T	3: 107,355,189 (GRCm39)	D420N	probably benign	Het
Kcnj8	T	C	6: 142,515,961 (GRCm39)	N49D	probably damaging	Het
Kif26b	C	A	1: 178,743,213 (GRCm39)	A656D	probably damaging	Het
Klc4	T	C	17: 46,946,361 (GRCm39)	E488G	probably damaging	Het
Mtmr4	C	T	11: 87,502,750 (GRCm39)	H878Y	probably benign	Het
Ndufaf7	T	C	17: 79,254,520 (GRCm39)		probably benign	Het
Nlrp14	T	G	7: 106,781,308 (GRCm39)	D168E	possibly damaging	Het
Ogdhl	T	C	14: 32,055,669 (GRCm39)	F251S	probably damaging	Het
Or1p1	T	C	11: 74,180,213 (GRCm39)	V247A	probably damaging	Het
P2rx5	A	T	11: 73,058,318 (GRCm39)		probably null	Het
Parp14	G	A	16: 35,661,445 (GRCm39)	T1501I	probably benign	Het
Prl3c1	C	A	13: 27,384,746 (GRCm39)	T85K	probably damaging	Het
Psg27	A	G	7: 18,295,729 (GRCm39)	Y239H	probably damaging	Het
Pzp	T	C	6: 128,493,872 (GRCm39)	R300G	probably benign	Het
Sec16a	A	G	2: 26,329,499 (GRCm39)	S839P	probably benign	Het
Sphkap	T	A	1: 83,317,329 (GRCm39)	D56V	probably damaging	Het
Srrt	C	T	5: 137,294,240 (GRCm39)		probably benign	Het
Sstr3	T	A	15: 78,424,667 (GRCm39)	T27S	probably benign	Het
Taf1d	C	A	9: 15,222,899 (GRCm39)	S255Y	probably damaging	Het
Tbc1d15	C	A	10: 115,045,546 (GRCm39)	E473*	probably null	Het
Tmem247	T	C	17: 87,224,963 (GRCm39)	V24A	probably benign	Het
Txnrd2	T	C	16: 18,296,519 (GRCm39)	C494R	probably damaging	Het
Zfp180	A	G	7: 23,784,894 (GRCm39)	D5G	probably damaging	Het

Other mutations in Ap1ar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Ap1ar	APN	3	127,614,400 (GRCm39)	splice site	probably benign
IGL02045:Ap1ar	APN	3	127,609,298 (GRCm39)	missense	probably damaging	1.00
IGL02887:Ap1ar	APN	3	127,602,192 (GRCm39)	missense	probably damaging	1.00
mantapsan	UTSW	3	127,606,177 (GRCm39)	splice site	probably null
R1468:Ap1ar	UTSW	3	127,606,215 (GRCm39)	missense	probably benign	0.00
R1468:Ap1ar	UTSW	3	127,606,215 (GRCm39)	missense	probably benign	0.00
R6166:Ap1ar	UTSW	3	127,606,177 (GRCm39)	splice site	probably null
R6732:Ap1ar	UTSW	3	127,609,334 (GRCm39)	nonsense	probably null
R8354:Ap1ar	UTSW	3	127,606,428 (GRCm39)	splice site	probably null
R9534:Ap1ar	UTSW	3	127,602,364 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-08-05