Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00955:Arl11'

28970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl11

Ensembl Gene

ENSMUSG00000043157

Gene Name

ADP-ribosylation factor-like 11

Synonyms

ARLTS1, C730007L20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

61547202-61549385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61548691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 167 (Q167L)

Ref Sequence

ENSEMBL: ENSMUSP00000153531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055159] [ENSMUST00000224727]

AlphaFold

Q6P3A9

Predicted Effect

probably benign
Transcript: ENSMUST00000055159
AA Change: Q167L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055447
Gene: ENSMUSG00000043157
AA Change: Q167L

Domain	Start	End	E-Value	Type
ARF	1	176	4.96e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188538

Predicted Effect

probably benign
Transcript: ENSMUST00000224727
AA Change: Q167L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ces3a	T	A	8: 105,777,202 (GRCm39)	V175E	probably damaging	Het
Cherp	C	T	8: 73,224,038 (GRCm39)	E140K	probably damaging	Het
Clpx	A	T	9: 65,231,552 (GRCm39)	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,106,225 (GRCm39)	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,231,379 (GRCm39)	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,631,829 (GRCm39)	T123S	possibly damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dzank1	G	A	2: 144,332,094 (GRCm39)	T414I	probably benign	Het
Erich3	A	G	3: 154,454,156 (GRCm39)	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,356,282 (GRCm39)	D83E	possibly damaging	Het
Hars2	T	C	18: 36,922,410 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,529,964 (GRCm39)	D372G	probably damaging	Het
Kcnk2	A	T	1: 188,975,211 (GRCm39)	I264N	probably damaging	Het
Kctd4	A	G	14: 76,200,668 (GRCm39)	D213G	probably damaging	Het
Lhx9	T	C	1: 138,756,418 (GRCm39)	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,914,403 (GRCm39)		probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,879,192 (GRCm39)	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,829,526 (GRCm39)	L91*	probably null	Het
Mup11	C	T	4: 60,615,549 (GRCm39)	R175H	probably benign	Het
Nbea	T	C	3: 55,912,893 (GRCm39)	K965E	possibly damaging	Het
Or52ab7	C	A	7: 102,978,528 (GRCm39)	H278Q	probably damaging	Het
Papss1	G	A	3: 131,305,710 (GRCm39)	E252K	probably benign	Het
Robo2	A	T	16: 73,812,860 (GRCm39)	L278Q	probably damaging	Het
Sned1	A	T	1: 93,202,125 (GRCm39)	I638F	probably damaging	Het
Spin1	T	C	13: 51,298,577 (GRCm39)		probably null	Het
Taar9	T	C	10: 23,985,429 (GRCm39)	T2A	probably benign	Het
Tbc1d8b	T	C	X: 138,626,629 (GRCm39)		probably null	Het

Other mutations in Arl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Arl11	APN	14	61,548,487 (GRCm39)	missense	probably damaging	0.99
IGL02756:Arl11	APN	14	61,548,535 (GRCm39)	missense	probably damaging	1.00
R1755:Arl11	UTSW	14	61,548,393 (GRCm39)	missense	probably benign
R4688:Arl11	UTSW	14	61,548,546 (GRCm39)	missense	probably benign	0.16
R5833:Arl11	UTSW	14	61,548,511 (GRCm39)	missense	probably damaging	1.00
R6438:Arl11	UTSW	14	61,548,393 (GRCm39)	missense	probably benign
R7129:Arl11	UTSW	14	61,548,346 (GRCm39)	missense	possibly damaging	0.67
R8213:Arl11	UTSW	14	61,548,714 (GRCm39)	missense	probably benign	0.00
R8812:Arl11	UTSW	14	61,548,422 (GRCm39)	nonsense	probably null
RF004:Arl11	UTSW	14	61,548,304 (GRCm39)	missense	probably damaging	1.00
Z1177:Arl11	UTSW	14	61,548,317 (GRCm39)	frame shift	probably null

Posted On

2013-04-17