Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Asb5'

534570

Institutional Source

Beutler Lab

Gene Symbol

Asb5

Ensembl Gene

ENSMUSG00000031519

Gene Name

ankyrin repeat and SOCs box-containing 5

Synonyms

1110018D09Rik

Accession Numbers

Essential gene?

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

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55003366-55040877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55038106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 210 (M210V)

Ref Sequence

ENSEMBL: ENSMUSP00000033918 (fasta)

Gene Model

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

AlphaFold

Q9D1A4

Predicted Effect

probably benign
Transcript: ENSMUST00000033918
AA Change: M210V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: M210V

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

0.0609

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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
Adamtsl2	T	C	2: 26,971,718 (GRCm39)	M1T	probably null	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Alox8	T	C	11: 69,077,331 (GRCm39)	Y473C	probably damaging	Het
Alox8	T	C	11: 69,080,715 (GRCm39)	R209G	possibly damaging	Het
Atp2c2	T	A	8: 120,461,154 (GRCm39)	L249Q	probably damaging	Het
AU018091	T	G	7: 3,213,986 (GRCm39)	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,162,583 (GRCm39)	K294*	probably null	Het
Baz2b	C	T	2: 59,747,769 (GRCm39)	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,182,296 (GRCm39)	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,069,985 (GRCm39)	I145N	probably benign	Het
Casq2	A	T	3: 101,994,076 (GRCm39)	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,345,833 (GRCm39)	L993P	probably damaging	Het
Cdcp3	A	T	7: 130,798,233 (GRCm39)	I81F	possibly damaging	Het
Cfap44	A	G	16: 44,224,442 (GRCm39)	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,512,144 (GRCm39)	I91F	probably damaging	Het
Crebbp	T	A	16: 3,997,886 (GRCm39)	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,163,467 (GRCm39)	T321A	probably benign	Het
Dido1	A	G	2: 180,304,100 (GRCm39)	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,024,391 (GRCm39)	V174G	probably damaging	Het
Gm20730	G	T	6: 43,058,767 (GRCm39)		probably null	Het
Gm36176	T	C	10: 77,682,976 (GRCm39)		probably benign	Het
Gper1	T	A	5: 139,412,435 (GRCm39)	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,888,817 (GRCm39)	L89P	probably damaging	Het
Katnal1	T	C	5: 148,830,974 (GRCm39)	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Klhl20	T	A	1: 160,932,976 (GRCm39)	E277D	probably benign	Het
Lingo1	T	C	9: 56,527,056 (GRCm39)	Y517C	probably damaging	Het
Lrrk1	C	T	7: 65,992,527 (GRCm39)	E82K	probably benign	Het
Mtor	T	A	4: 148,573,955 (GRCm39)	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,552,965 (GRCm39)	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,805,074 (GRCm39)	T1643I	probably damaging	Het
Or13a25	A	C	7: 140,248,093 (GRCm39)	I298L	possibly damaging	Het
Or1i2	A	G	10: 78,448,424 (GRCm39)	L17P	probably damaging	Het
Or2y15	A	T	11: 49,350,904 (GRCm39)	T133S	possibly damaging	Het
Or4c10	T	C	2: 89,760,683 (GRCm39)	C177R	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,015 (GRCm39)	V241A	probably benign	Het
Phf11b	T	A	14: 59,565,572 (GRCm39)	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,800,233 (GRCm39)	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,629 (GRCm39)	S352G	probably benign	Het
Ptprh	C	T	7: 4,554,134 (GRCm39)	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,664 (GRCm39)	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,651,058 (GRCm39)		probably null	Het
Rbm20	G	A	19: 53,802,500 (GRCm39)	G336E	probably damaging	Het
Sdsl	T	C	5: 120,600,167 (GRCm39)	I77V	probably benign	Het
Serpina3b	G	A	12: 104,100,341 (GRCm39)	E308K	probably benign	Het
Sfrp5	G	A	19: 42,190,149 (GRCm39)	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,205,835 (GRCm39)	V451I	probably benign	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spg11	C	T	2: 121,890,016 (GRCm39)	A2109T	probably damaging	Het
Stard9	C	T	2: 120,530,324 (GRCm39)	R2194C	probably benign	Het
Tfeb	T	C	17: 48,097,123 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,464,655 (GRCm39)	I128N	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tpr	T	G	1: 150,312,424 (GRCm39)		probably null	Het
Traf3ip1	T	C	1: 91,448,722 (GRCm39)	I456T	probably benign	Het
Ttll4	T	A	1: 74,728,572 (GRCm39)	D892E	probably damaging	Het
Ubr1	T	A	2: 120,727,156 (GRCm39)		probably null	Het
Vmn2r74	T	A	7: 85,606,630 (GRCm39)	I239F	probably benign	Het
Wdfy3	C	T	5: 102,100,865 (GRCm39)	V251M	probably damaging	Het
Xylb	T	A	9: 119,220,820 (GRCm39)	L531H	probably damaging	Het
Zfp960	T	A	17: 17,308,434 (GRCm39)	C383S	probably damaging	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
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
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'- GCATATGCCGATTTGTCTTTCAATG -3'
(R):5'- GCTTTGACGTATTCTCATGAAGTAG -3'

Sequencing Primer
(F):5'- CAATGGATTCTACTTCTGTGGGAAAC -3'
(R):5'- CGTATTCTCATGAAGTAGAAGTTTCC -3'

Posted On

2018-09-12