Mutagenetix > Incidental Mutations

Incidental Mutation 'R4895:Asb13'

377587

Institutional Source

Beutler Lab

Gene Symbol

Asb13

Ensembl Gene

ENSMUSG00000033781

Gene Name

ankyrin repeat and SOCS box-containing 13

Synonyms

6430573K02Rik, 2210015B19Rik

MMRRC Submission

042499-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3634032-3653822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3643589 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 116 (Y116H)

Ref Sequence

ENSEMBL: ENSMUSP00000046476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042288]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042288
AA Change: Y116H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: Y116H

Domain	Start	End	E-Value	Type
ANK	18	47	1.25e2	SMART
ANK	51	80	3.91e-3	SMART
ANK	84	113	1.53e-5	SMART
ANK	116	145	3.71e-4	SMART
ANK	149	178	6.65e-6	SMART
ANK	181	210	6.92e-4	SMART
SOCS_box	239	278	2.43e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157850

Meta Mutation Damage Score

0.1132

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,613,070		probably benign	Het
Abat	G	A	16: 8,615,962	A392T	probably benign	Het
Abca14	G	A	7: 120,247,349		probably null	Het
Abcc6	A	T	7: 45,980,990	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,550,481		probably benign	Het
Adgrf1	G	T	17: 43,310,620	V583L	probably benign	Het
Aftph	T	C	11: 20,696,801	D825G	probably damaging	Het
Ahnak	T	C	19: 9,017,441	V5363A	probably benign	Het
Apba3	G	A	10: 81,271,283		probably null	Het
Asb4	C	A	6: 5,398,266	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,414,369	H223Q	probably benign	Het
Best1	A	G	19: 9,992,771	L159P	probably benign	Het
Cacna1h	A	T	17: 25,389,422	M731K	probably damaging	Het
Catspere1	T	A	1: 177,859,861		noncoding transcript	Het
Cenpv	A	T	11: 62,527,520	Y202*	probably null	Het
Cep57	A	T	9: 13,816,153		probably benign	Het
Cfap100	T	A	6: 90,406,102	D363V	possibly damaging	Het
Cluh	A	G	11: 74,667,405	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,663,110		probably null	Het
Dnajc11	T	C	4: 151,979,933	F514L	probably damaging	Het
Efcab3	T	A	11: 105,117,401		probably benign	Het
Eif2b4	T	G	5: 31,192,954	Q8P	probably benign	Het
Epha6	A	T	16: 59,666,555	V1043E	probably benign	Het
Gm11562	G	T	11: 99,620,315	Q20K	unknown	Het
Gm11639	C	T	11: 104,720,286	T318I	probably benign	Het
Gm11639	A	G	11: 104,749,670	D1026G	probably damaging	Het
Gm13762	A	T	2: 88,973,711	F60Y	probably benign	Het
Gm14415	A	T	2: 177,104,321		noncoding transcript	Het
Gm5431	A	G	11: 48,889,028	S634P	probably damaging	Het
Gpld1	C	A	13: 24,979,728	N501K	probably damaging	Het
Gsn	C	T	2: 35,302,578	R513C	probably damaging	Het
Gulp1	T	C	1: 44,788,597	F300L	probably benign	Het
H2afj	T	C	6: 136,808,662	V108A	possibly damaging	Het
Haus3	T	C	5: 34,168,070	R82G	probably benign	Het
Herc2	G	A	7: 56,222,986	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,677,379	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,465,253	I53V	probably benign	Het
Inpp5e	C	T	2: 26,397,912	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367	C491*	probably null	Het
Itpkb	C	A	1: 180,413,895	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,928,416		probably null	Het
Kmt2d	T	C	15: 98,844,487		probably benign	Het
Lamb3	C	T	1: 193,332,314	R594*	probably null	Het
Map3k20	A	G	2: 72,402,356		probably benign	Het
Maz	A	T	7: 127,025,300		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Nbeal1	A	G	1: 60,292,903	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,469,896	Y61H	probably damaging	Het
Npat	T	A	9: 53,570,489	L1166M	probably damaging	Het
Olfr1112	A	C	2: 87,191,848	I54L	probably benign	Het
Olfr1447	C	T	19: 12,900,887	V298M	probably damaging	Het
Olfr190	C	T	16: 59,074,657	C141Y	probably benign	Het
Olfr490	A	C	7: 108,286,595	I177S	probably damaging	Het
Olfr988	A	T	2: 85,352,997	*310K	probably null	Het
Pcdhb3	T	C	18: 37,301,706	F242L	probably damaging	Het
Phip	A	G	9: 82,959,595	V57A	probably benign	Het
Plekha7	A	T	7: 116,189,391		probably null	Het
Pot1a	A	C	6: 25,753,206	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,784,352	P217L	probably damaging	Het
Prepl	A	G	17: 85,081,066	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,575,530	I175V	probably benign	Het
Ranbp6	A	T	19: 29,809,775	I1059N	possibly damaging	Het
Rhag	A	G	17: 40,811,351	Q59R	probably benign	Het
Sema4c	A	C	1: 36,553,570		probably null	Het
Sf3b3	T	C	8: 110,816,024	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,198,857		probably null	Het
Tbrg1	A	T	9: 37,655,079	I54N	probably damaging	Het
Tchh	A	T	3: 93,445,686	E811V	unknown	Het
Tenm3	T	A	8: 48,300,971	D799V	probably damaging	Het
Tlr5	T	C	1: 182,974,199	L342P	probably damaging	Het
Tppp	C	T	13: 74,030,877	R146*	probably null	Het
Trpm4	A	T	7: 45,318,058	M574K	probably damaging	Het
Uggt1	A	T	1: 36,156,264	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,018,886	K1124N	probably damaging	Het
Usf3	A	C	16: 44,221,096	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,318,961	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,259,761	H650N	probably benign	Het
Vmn2r59	T	A	7: 42,045,794	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,537,972	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,826,435	R235*	probably null	Het

Other mutations in Asb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Asb13	APN	13	3643476	missense	probably null	1.00
IGL00929:Asb13	APN	13	3649427	missense	probably damaging	1.00
IGL01533:Asb13	APN	13	3642164	missense	probably benign	0.05
R0654:Asb13	UTSW	13	3642092	missense	probably damaging	1.00
R0694:Asb13	UTSW	13	3649480	missense	probably benign	0.16
R0883:Asb13	UTSW	13	3645052	critical splice donor site	probably null
R2014:Asb13	UTSW	13	3649512	critical splice donor site	probably null
R2290:Asb13	UTSW	13	3649418	missense	probably damaging	1.00
R4320:Asb13	UTSW	13	3645012	missense	possibly damaging	0.69
R4322:Asb13	UTSW	13	3645012	missense	possibly damaging	0.69
R4324:Asb13	UTSW	13	3645012	missense	possibly damaging	0.69
R5305:Asb13	UTSW	13	3643479	missense	probably damaging	1.00
R6417:Asb13	UTSW	13	3643574	missense	probably damaging	1.00
R6420:Asb13	UTSW	13	3643574	missense	probably damaging	1.00
R6813:Asb13	UTSW	13	3645029	missense	probably damaging	1.00
R7648:Asb13	UTSW	13	3649332	missense	probably damaging	1.00
R7735:Asb13	UTSW	13	3634180	splice site	probably null
R7771:Asb13	UTSW	13	3649463	missense	probably damaging	1.00
R7944:Asb13	UTSW	13	3649413	missense	probably damaging	1.00
R8143:Asb13	UTSW	13	3642065	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTGTCATTGCACTCATTTGC -3'
(R):5'- ACATTCCAATCTCTCTGTGGAG -3'

Sequencing Primer
(F):5'- AGTGTCATTGCACTCATTTGCCTTAC -3'
(R):5'- GAGCAAAGGTCCTGAGTTCAATTCC -3'

Posted On

2016-03-17