Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Asb5'

602071

Institutional Source

Beutler Lab

Gene Symbol

Asb5

Ensembl Gene

ENSMUSG00000031519

Gene Name

ankyrin repeat and SOCs box-containing 5

Synonyms

1110018D09Rik

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55003366-55040877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55037827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 173 (H173P)

Ref Sequence

ENSEMBL: ENSMUSP00000033918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033918]

AlphaFold

Q9D1A4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: H173P

Domain	Start	End	E-Value	Type
ANK	69	98	6.26e-2	SMART
ANK	102	131	2.45e-4	SMART
ANK	135	164	7.19e-2	SMART
ANK	167	196	5.58e1	SMART
ANK	200	229	9.35e-1	SMART
ANK	232	261	5.32e-5	SMART
SOCS_box	290	329	5.37e-11	SMART

Meta Mutation Damage Score

0.7797

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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 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 have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,275 (GRCm39)	R396G	probably damaging	Het
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Ism2	A	C	12: 87,326,634 (GRCm39)	V435G	probably damaging	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or6c5c	A	G	10: 129,298,665 (GRCm39)	N40S	probably damaging	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het

Other mutations in Asb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Asb5	APN	8	55,036,695 (GRCm39)	critical splice donor site	probably null
IGL01313:Asb5	APN	8	55,038,798 (GRCm39)	splice site	probably benign
IGL01383:Asb5	APN	8	55,003,544 (GRCm39)	missense	probably damaging	1.00
IGL03214:Asb5	APN	8	55,038,098 (GRCm39)	missense	probably benign	0.30
IGL03403:Asb5	APN	8	55,036,582 (GRCm39)	splice site	probably benign
R2002:Asb5	UTSW	8	55,036,655 (GRCm39)	missense	probably damaging	1.00
R4768:Asb5	UTSW	8	55,038,031 (GRCm39)	missense	probably benign	0.00
R4786:Asb5	UTSW	8	55,038,874 (GRCm39)	missense	probably benign	0.07
R5602:Asb5	UTSW	8	55,038,974 (GRCm39)	missense	probably benign	0.06
R6475:Asb5	UTSW	8	55,003,610 (GRCm39)	missense	probably damaging	0.99
R6836:Asb5	UTSW	8	55,038,106 (GRCm39)	missense	probably benign
R7716:Asb5	UTSW	8	55,038,021 (GRCm39)	missense	probably benign	0.06
R7775:Asb5	UTSW	8	55,037,827 (GRCm39)	missense
R7778:Asb5	UTSW	8	55,037,827 (GRCm39)	missense
R8156:Asb5	UTSW	8	55,003,541 (GRCm39)	missense	probably damaging	1.00
R9032:Asb5	UTSW	8	55,038,929 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTTCCTTAGTCCCACATGAC -3'
(R):5'- TGTCGAGACATTCATGGTGACC -3'

Sequencing Primer
(F):5'- AGTCCCACATGACTTTCAAATCTC -3'
(R):5'- GACATTCATGGTGACCTGCCAATG -3'

Posted On

2019-12-03