Mutagenetix > Incidental Mutation

Incidental Mutation 'R7778:Asb5'

599000

Institutional Source

Beutler Lab

Gene Symbol

Asb5

Ensembl Gene

ENSMUSG00000031519

Gene Name

ankyrin repeat and SOCs box-containing 5

Synonyms

1110018D09Rik

MMRRC Submission

045834-MU

Accession Numbers

Essential gene?

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

Stock #

R7778 (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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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
4932414N04Rik	T	C	2: 68,569,855 (GRCm39)	S524P	possibly damaging	Het
Aplf	A	C	6: 87,635,184 (GRCm39)		probably null	Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	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
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
Elmo1	A	G	13: 20,773,812 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kcnt1	T	G	2: 25,791,901 (GRCm39)	I617S	probably benign	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lcn2	T	C	2: 32,277,927 (GRCm39)	D55G	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or11h23	G	T	14: 50,947,928 (GRCm39)	C47F	possibly damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prkcd	C	T	14: 30,327,772 (GRCm39)		probably null	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	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
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	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
Tmem69	A	G	4: 116,410,595 (GRCm39)	L125P	probably damaging	Het
Tnfsf13	C	T	11: 69,575,989 (GRCm39)	V33M	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	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
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het
Zfp978	T	C	4: 147,469,760 (GRCm39)		probably null	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
R7824: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'- CAAGTTCCTTAGTCCCACATGAC -3'
(R):5'- TGTCGAGACATTCATGGTGAC -3'

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

Posted On

2019-11-26