Mutagenetix > Incidental Mutations

Incidental Mutation 'R3427:Asb18'

267901

Institutional Source

Beutler Lab

Gene Symbol

Asb18

Ensembl Gene

ENSMUSG00000067081

Gene Name

ankyrin repeat and SOCS box-containing 18

Synonyms

MMRRC Submission

040645-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3427 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

89950220-90014666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89968593 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 242 (G242S)

Ref Sequence

ENSEMBL: ENSMUSP00000084095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086882
AA Change: G242S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: G242S

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	3e-8	BLAST
ANK	119	148	5.32e-5	SMART
ANK	151	180	1.99e-4	SMART
ANK	184	213	3.26e2	SMART
ANK	218	247	3.95e1	SMART
ANK	251	289	1.96e3	SMART
ANK	293	322	6.61e-1	SMART
Blast:ANK	329	365	1e-12	BLAST
SOCS_box	422	461	4.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097656

SMART Domains

Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	1e-8	BLAST
SOCS_box	158	197	4.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151330

SMART Domains

Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154228

SMART Domains

Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	9e-9	BLAST
ANK	78	107	5.32e-5	SMART
ANK	110	139	1.99e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	A	9: 107,929,770	F431I	probably damaging	Het
Atp13a3	T	C	16: 30,344,593	I582V	probably benign	Het
BC034090	T	C	1: 155,241,498	I291M	probably benign	Het
Bsph1	T	C	7: 13,472,243	Y78H	probably damaging	Het
Chd6	G	T	2: 160,990,255	T999N	probably damaging	Het
Cps1	T	A	1: 67,174,494	V795E	probably damaging	Het
Crhr1	A	G	11: 104,173,593		probably null	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctbp2	A	T	7: 132,991,592	H793Q	probably damaging	Het
Cul5	T	C	9: 53,617,890	M805V	probably benign	Het
Dctn3	T	C	4: 41,719,858	K83E	probably damaging	Het
Ep300	A	G	15: 81,601,279	N156D	unknown	Het
Epb42	A	T	2: 121,030,039	L160M	probably damaging	Het
Exosc2	T	C	2: 31,679,888	L237P	probably damaging	Het
Fiz1	A	G	7: 5,012,709	F94S	probably damaging	Het
Gm5422	A	G	10: 31,248,846		noncoding transcript	Het
Igsf9b	T	C	9: 27,334,577	F1280S	probably damaging	Het
Igtp	G	A	11: 58,206,593	V197I	probably damaging	Het
Kcnh1	T	C	1: 192,241,930	F151L	probably benign	Het
Nudc	C	T	4: 133,534,257	G239S	probably benign	Het
Olfr811	T	C	10: 129,801,851	K225E	possibly damaging	Het
Plekhb1	T	C	7: 100,645,650	Y172C	probably damaging	Het
Plscr4	T	C	9: 92,488,744	S255P	probably damaging	Het
Rbm26	A	G	14: 105,131,532	V737A	probably damaging	Het
Rps6ka4	C	A	19: 6,837,755		probably null	Het
Rsf1	GCG	GCGACGGCGTCG	7: 97,579,907		probably benign	Het
Rttn	G	A	18: 89,095,651		probably null	Het
Slc22a5	A	G	11: 53,869,326	V388A	probably benign	Het
Strip1	T	C	3: 107,616,822	H593R	possibly damaging	Het
Sycp1	A	T	3: 102,876,350	C603S	probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc1	C	T	9: 95,732,196	R5Q	probably benign	Het
Trpv3	A	T	11: 73,285,941	Y382F	probably damaging	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het

Other mutations in Asb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Asb18	APN	1	89996241	missense	probably benign	0.02
IGL01559:Asb18	APN	1	89954450	missense	probably damaging	1.00
IGL02188:Asb18	APN	1	89996299	missense	probably benign	0.08
IGL02378:Asb18	APN	1	89992988	missense	probably damaging	1.00
IGL02543:Asb18	APN	1	90014391	missense	probably damaging	0.99
IGL02828:Asb18	APN	1	89996210	critical splice donor site	probably null
IGL02877:Asb18	APN	1	89952811	missense	possibly damaging	0.65
IGL03290:Asb18	APN	1	90014574	missense	probably damaging	1.00
R0560:Asb18	UTSW	1	90014528	missense	probably damaging	1.00
R0671:Asb18	UTSW	1	89993171	missense	probably damaging	1.00
R1468:Asb18	UTSW	1	89996283	missense	probably damaging	1.00
R1468:Asb18	UTSW	1	89996283	missense	probably damaging	1.00
R1510:Asb18	UTSW	1	89996254	missense	possibly damaging	0.62
R1721:Asb18	UTSW	1	89968580	missense	probably benign	0.36
R1793:Asb18	UTSW	1	90014555	missense	probably damaging	1.00
R1863:Asb18	UTSW	1	90014382	missense	probably benign	0.10
R2171:Asb18	UTSW	1	89968697	missense	probably benign	0.01
R2348:Asb18	UTSW	1	90014534	missense	probably damaging	0.99
R3052:Asb18	UTSW	1	89992985	missense	probably damaging	1.00
R3053:Asb18	UTSW	1	89992985	missense	probably damaging	1.00
R4094:Asb18	UTSW	1	90014425	missense	probably damaging	1.00
R4105:Asb18	UTSW	1	89968521	missense	possibly damaging	0.61
R4405:Asb18	UTSW	1	89968689	missense	probably benign	0.00
R4815:Asb18	UTSW	1	90014425	missense	probably damaging	1.00
R4992:Asb18	UTSW	1	89952863	missense	probably benign	0.03
R5287:Asb18	UTSW	1	90014388	missense	probably benign	0.01
R5403:Asb18	UTSW	1	90014388	missense	probably benign	0.01
R5494:Asb18	UTSW	1	89954399	missense	probably damaging	1.00
R5504:Asb18	UTSW	1	89993024	missense	probably damaging	1.00
R5617:Asb18	UTSW	1	89954462	missense	possibly damaging	0.90
R5826:Asb18	UTSW	1	90014538	missense	probably damaging	0.97
R6369:Asb18	UTSW	1	90014471	missense	probably damaging	0.99
R7474:Asb18	UTSW	1	89993033	missense	possibly damaging	0.91
R7751:Asb18	UTSW	1	89968484	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTAGTAGCACCTGGACCGTG -3'
(R):5'- TGAAGCTCCAAAGTTCTGGC -3'

Sequencing Primer
(F):5'- ACGCGCCACCATAGTCGAG -3'
(R):5'- TTTGGCTGGAGCTCACCC -3'

Posted On

2015-02-18