Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01465:Abracl'

88080

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 #

IGL01465

Quality Score

Status

Chromosome

Chromosomal Location

17887008-17899000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17887399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 76 (I76N)

Ref Sequence

ENSEMBL: ENSMUSP00000151841 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020002
AA Change: I76N

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

SMART Domains

Protein: ENSMUSP00000020002
Gene: ENSMUSG00000078453
AA Change: I76N

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 damaging
Transcript: ENSMUST00000218994
AA Change: I76N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220110
AA Change: I76N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220433

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,114,838 (GRCm39)		probably null	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Clcn6	A	T	4: 148,105,908 (GRCm39)		probably benign	Het
Cpsf2	C	A	12: 101,963,592 (GRCm39)	D440E	probably damaging	Het
Csf2ra	A	G	19: 61,214,436 (GRCm39)	V243A	possibly damaging	Het
Cyp4f18	T	A	8: 72,756,288 (GRCm39)	H96L	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
Fbn2	T	A	18: 58,336,905 (GRCm39)	N117Y	probably null	Het
Gdpd3	A	G	7: 126,367,829 (GRCm39)	I221V	possibly damaging	Het
Grk2	A	T	19: 4,340,886 (GRCm39)	C221S	probably damaging	Het
Idi1	T	C	13: 8,940,415 (GRCm39)	I199T	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Lig1	T	A	7: 13,030,317 (GRCm39)	S431R	probably benign	Het
Lrg1	T	C	17: 56,427,705 (GRCm39)	E89G	probably benign	Het
Lrrk2	A	G	15: 91,613,128 (GRCm39)	K751E	probably benign	Het
Macf1	T	A	4: 123,384,514 (GRCm39)	T1128S	probably benign	Het
Nphs1	T	C	7: 30,186,139 (GRCm39)	*1243R	probably null	Het
Rere	G	A	4: 150,594,451 (GRCm39)	V354I	unknown	Het
Safb	A	G	17: 56,909,974 (GRCm39)		probably benign	Het
Slc2a10	C	A	2: 165,359,597 (GRCm39)	A487D	possibly damaging	Het
Slc7a12	T	A	3: 14,564,383 (GRCm39)	S85R	possibly damaging	Het
Sorbs3	G	A	14: 70,432,958 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,600,135 (GRCm39)	M19013T	probably damaging	Het
Utp4	A	G	8: 107,621,330 (GRCm39)	T36A	probably benign	Het
Vmn2r111	A	T	17: 22,767,718 (GRCm39)	F593Y	probably benign	Het

Other mutations in Abracl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Abracl	APN	10	17,887,379 (GRCm39)	unclassified	probably benign
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

2013-11-18