Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00817:Abracl'

28288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abracl

Ensembl Gene

ENSMUSG00000078453

Gene Name

ABRA C-terminal like

Synonyms

3110003A17Rik, 1700028I04Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00817

Quality Score

Status

Chromosome

Chromosomal Location

17887008-17899000 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 17887379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020002] [ENSMUST00000218994] [ENSMUST00000220110] [ENSMUST00000220433]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020002

SMART Domains

Protein: ENSMUSP00000020002
Gene: ENSMUSG00000078453

Domain	Start	End	E-Value	Type
Costars	1	79	3.36e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217718

Predicted Effect

probably benign
Transcript: ENSMUST00000218994

Predicted Effect

probably benign
Transcript: ENSMUST00000220110

Predicted Effect

probably benign
Transcript: ENSMUST00000220433

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Cebpz	T	C	17: 79,242,259 (GRCm39)	Y465C	probably damaging	Het
Dock9	G	T	14: 121,935,703 (GRCm39)	T8K	probably damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Homez	G	A	14: 55,094,575 (GRCm39)	R27*	probably null	Het
Ifnlr1	A	G	4: 135,431,596 (GRCm39)	T262A	probably benign	Het
Kif1c	A	G	11: 70,596,079 (GRCm39)	D231G	probably benign	Het
Lipe	T	C	7: 25,087,874 (GRCm39)	D62G	probably damaging	Het
Mtss1	G	A	15: 58,815,481 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,249,430 (GRCm39)	K510R	probably benign	Het
Neb	T	C	2: 52,133,207 (GRCm39)	K3444E	probably damaging	Het
Pcdha12	C	A	18: 37,154,986 (GRCm39)	H568Q	probably benign	Het
Pck1	T	C	2: 172,995,225 (GRCm39)	V15A	possibly damaging	Het
Polr2h	T	C	16: 20,540,655 (GRCm39)		probably benign	Het
Psmb8	G	A	17: 34,419,703 (GRCm39)	V186I	probably damaging	Het
Psme4	T	C	11: 30,770,129 (GRCm39)	Y750H	probably benign	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Trim67	T	C	8: 125,541,799 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Wdr4	A	G	17: 31,720,232 (GRCm39)	L240P	possibly damaging	Het

Other mutations in Abracl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01465:Abracl	APN	10	17,887,399 (GRCm39)	missense	probably damaging	1.00
R9127:Abracl	UTSW	10	17,887,444 (GRCm39)	missense	probably damaging	1.00
R9516:Abracl	UTSW	10	17,894,631 (GRCm39)	missense	unknown

Posted On

2013-04-17