Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01552:Arl8a'

90618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl8a

Ensembl Gene

ENSMUSG00000026426

Gene Name

ADP-ribosylation factor-like 8A

Synonyms

1110033P22Rik, Arl10b

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

135074572-135084007 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 135080606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027684]

AlphaFold

Q8VEH3

Predicted Effect

probably null
Transcript: ENSMUST00000027684

SMART Domains

Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426

Domain	Start	End	E-Value	Type
ARF	1	185	2.25e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123344

Predicted Effect

probably null
Transcript: ENSMUST00000125774

SMART Domains

Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426

Domain	Start	End	E-Value	Type
Pfam:Roc	16	113	1e-12	PFAM
Pfam:Ras	18	162	4.2e-16	PFAM
Pfam:Arf	19	160	6.6e-41	PFAM
Pfam:Gtr1_RagA	26	155	3.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000125774

SMART Domains

Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426

Domain	Start	End	E-Value	Type
Pfam:Roc	16	113	1e-12	PFAM
Pfam:Ras	18	162	4.2e-16	PFAM
Pfam:Arf	19	160	6.6e-41	PFAM
Pfam:Gtr1_RagA	26	155	3.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157096

Meta Mutation Damage Score

0.9591

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bivm	A	G	1: 44,165,933 (GRCm39)	N128D	probably benign	Het
Cfhr4	A	G	1: 139,667,040 (GRCm39)	Y412H	probably damaging	Het
Chil3	C	A	3: 106,056,164 (GRCm39)	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,359,206 (GRCm39)	H155R	probably damaging	Het
Elapor1	A	G	3: 108,388,628 (GRCm39)	W252R	possibly damaging	Het
Etl4	T	A	2: 20,783,000 (GRCm39)	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,748,510 (GRCm39)		probably null	Het
Gfpt2	G	T	11: 49,695,832 (GRCm39)	E21*	probably null	Het
Gm10197	C	T	19: 53,360,122 (GRCm39)	V26I	possibly damaging	Het
Golim4	T	C	3: 75,863,502 (GRCm39)	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,029,784 (GRCm39)		probably benign	Het
Ino80d	A	G	1: 63,097,136 (GRCm39)		probably benign	Het
Ipo13	A	G	4: 117,758,161 (GRCm39)	M734T	probably benign	Het
Klk1b27	C	T	7: 43,704,039 (GRCm39)	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,186,324 (GRCm39)	V31A	probably benign	Het
Lrp1	A	T	10: 127,424,379 (GRCm39)	L769*	probably null	Het
Nipsnap1	A	T	11: 4,839,124 (GRCm39)	S135C	probably damaging	Het
Or4k35	C	A	2: 111,100,257 (GRCm39)	G152C	probably damaging	Het
Pparg	A	T	6: 115,467,083 (GRCm39)	H452L	probably benign	Het
Rab34	C	T	11: 78,082,264 (GRCm39)	A202V	probably damaging	Het
Ryr3	T	A	2: 112,656,228 (GRCm39)	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,582,605 (GRCm39)	Q195R	probably benign	Het
Sik2	C	A	9: 50,828,822 (GRCm39)		probably benign	Het
Slc25a36	A	G	9: 96,961,286 (GRCm39)	V111A	probably benign	Het
Slco1a8	T	C	6: 141,933,432 (GRCm39)	K451R	possibly damaging	Het
Sptbn5	A	T	2: 119,884,903 (GRCm39)		probably benign	Het
Tac2	G	A	10: 127,561,970 (GRCm39)	E25K	possibly damaging	Het
Tnc	A	G	4: 63,888,645 (GRCm39)	V1807A	probably damaging	Het
Top3b	T	C	16: 16,705,687 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,802,820 (GRCm39)	E464G	probably damaging	Het

Other mutations in Arl8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0436:Arl8a	UTSW	1	135,074,718 (GRCm39)	start codon destroyed	probably null	0.45
R1639:Arl8a	UTSW	1	135,080,561 (GRCm39)	nonsense	probably null
R2393:Arl8a	UTSW	1	135,080,604 (GRCm39)	missense	probably damaging	1.00
R2842:Arl8a	UTSW	1	135,082,989 (GRCm39)	missense	probably damaging	0.98
R3873:Arl8a	UTSW	1	135,080,610 (GRCm39)	splice site	probably null
R4764:Arl8a	UTSW	1	135,074,837 (GRCm39)	missense	probably benign	0.04
R5736:Arl8a	UTSW	1	135,082,458 (GRCm39)	missense	probably benign
R6007:Arl8a	UTSW	1	135,080,606 (GRCm39)	critical splice donor site	probably null
R6989:Arl8a	UTSW	1	135,074,735 (GRCm39)	missense	probably benign
R7036:Arl8a	UTSW	1	135,082,206 (GRCm39)	missense	probably benign	0.19
R8758:Arl8a	UTSW	1	135,082,189 (GRCm39)	missense	possibly damaging	0.90

Posted On

2013-12-09