Mutagenetix > Incidental Mutation

Incidental Mutation 'R9333:Asb2'

711175

Institutional Source

Beutler Lab

Gene Symbol

Asb2

Ensembl Gene

ENSMUSG00000021200

Gene Name

ankyrin repeat and SOCS box-containing 2

Synonyms

1110008E15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9333 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103287401-103322260 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103311955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 56 (Q56*)

Ref Sequence

ENSEMBL: ENSMUSP00000021617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021617]

AlphaFold

Q8K0L0

Predicted Effect

probably null
Transcript: ENSMUST00000021617
AA Change: Q56*

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: Q56*

Domain	Start	End	E-Value	Type
UIM	26	45	1.02e0	SMART
ANK	104	133	1.81e2	SMART
ANK	137	167	5.45e-2	SMART
ANK	171	200	5.45e-2	SMART
ANK	204	233	2.21e-2	SMART
ANK	237	266	9.13e-4	SMART
ANK	270	299	7.42e-4	SMART
ANK	303	332	1.19e-2	SMART
ANK	336	365	5.67e0	SMART
ANK	368	397	6.02e-4	SMART
ANK	410	439	3.54e-1	SMART
ANK	440	469	6.81e-3	SMART
SOCS_box	592	631	2.51e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a conditional cells activated in the immune system exhibit impaired immature dendritic cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,754,416 (GRCm39)	G110V	probably benign	Het
Abraxas1	T	C	5: 100,959,939 (GRCm39)	S138G	probably damaging	Het
Aldoart1	C	T	4: 72,770,367 (GRCm39)	R147H	probably benign	Het
Arfgef1	C	A	1: 10,222,037 (GRCm39)	E1556*	probably null	Het
Arhgap39	C	T	15: 76,619,325 (GRCm39)	R753H	probably damaging	Het
Atp8b3	T	C	10: 80,360,180 (GRCm39)	I964V	probably benign	Het
Baiap3	C	A	17: 25,467,676 (GRCm39)	R338L	possibly damaging	Het
Clcn4	T	A	7: 7,292,192 (GRCm39)	M540L	probably damaging	Het
Crbn	T	C	6: 106,776,984 (GRCm39)	H12R	probably benign	Het
D6Wsu163e	A	G	6: 126,952,096 (GRCm39)	Y530C	probably damaging	Het
Dolpp1	T	A	2: 30,287,140 (GRCm39)	F191I	probably damaging	Het
Fam217a	T	C	13: 35,100,876 (GRCm39)	T94A	probably benign	Het
Fanci	T	C	7: 79,067,594 (GRCm39)	W347R	possibly damaging	Het
Fbxo39	A	T	11: 72,208,349 (GRCm39)	N234Y	probably damaging	Het
Fbxo4	A	G	15: 3,998,502 (GRCm39)	S319P	probably benign	Het
Gm14403	A	G	2: 177,200,919 (GRCm39)	N46S	probably benign	Het
Grm2	C	A	9: 106,525,416 (GRCm39)	R433L	possibly damaging	Het
Gtf2i	C	T	5: 134,271,840 (GRCm39)	D855N	probably benign	Het
Hcn2	T	A	10: 79,561,991 (GRCm39)	M329K	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,216 (GRCm39)	D369G	probably benign	Het
Kctd12	T	C	14: 103,219,054 (GRCm39)	K275E	probably damaging	Het
Klra4	T	A	6: 130,021,080 (GRCm39)	K238N	probably damaging	Het
Kremen2	T	A	17: 23,962,775 (GRCm39)	T104S	probably damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfsd10	A	G	5: 34,792,427 (GRCm39)	V258A	probably damaging	Het
Myh10	A	C	11: 68,680,980 (GRCm39)	Q1007P	probably benign	Het
Ndufaf5	A	G	2: 140,035,513 (GRCm39)	E243G	probably benign	Het
Or2ag16	T	C	7: 106,351,782 (GRCm39)	D271G	probably damaging	Het
Orm3	T	C	4: 63,274,528 (GRCm39)	I31T	probably damaging	Het
Pgm2	C	A	5: 64,263,100 (GRCm39)	T249K	probably benign	Het
Prcp	T	C	7: 92,577,894 (GRCm39)	Y388H	probably damaging	Het
Prmt3	T	G	7: 49,456,308 (GRCm39)	I306M	probably damaging	Het
Rag2	A	T	2: 101,460,752 (GRCm39)	D354V	probably benign	Het
Reep1	A	G	6: 71,772,198 (GRCm39)	D162G	probably damaging	Het
Rnpep	A	T	1: 135,191,862 (GRCm39)	W575R	probably damaging	Het
Rpl28	T	C	7: 4,796,079 (GRCm39)		probably benign	Het
Ryr1	A	C	7: 28,774,214 (GRCm39)		probably null	Het
Spg11	G	A	2: 121,932,244 (GRCm39)	R533C	probably damaging	Het
Tcf7l2	C	A	19: 55,919,928 (GRCm39)	S487*	probably null	Het
Usp39	T	C	6: 72,314,710 (GRCm39)	N232S	probably benign	Het
Vmn2r26	C	T	6: 124,003,009 (GRCm39)	P140S	probably benign	Het
Vmn2r34	C	T	7: 7,675,367 (GRCm39)	V674I	probably benign	Het

Other mutations in Asb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Asb2	APN	12	103,302,164 (GRCm39)	missense	possibly damaging	0.93
IGL01878:Asb2	APN	12	103,287,922 (GRCm39)	missense	possibly damaging	0.89
IGL02103:Asb2	APN	12	103,299,755 (GRCm39)	nonsense	probably null
IGL02936:Asb2	APN	12	103,302,173 (GRCm39)	missense	probably benign	0.04
R0178:Asb2	UTSW	12	103,291,811 (GRCm39)	missense	probably damaging	1.00
R0208:Asb2	UTSW	12	103,291,530 (GRCm39)	missense	possibly damaging	0.77
R0844:Asb2	UTSW	12	103,291,805 (GRCm39)	missense	probably damaging	1.00
R1309:Asb2	UTSW	12	103,291,667 (GRCm39)	missense	probably benign
R2931:Asb2	UTSW	12	103,301,146 (GRCm39)	missense	probably damaging	1.00
R4057:Asb2	UTSW	12	103,291,653 (GRCm39)	missense	probably benign
R4735:Asb2	UTSW	12	103,291,317 (GRCm39)	missense	probably benign	0.43
R4754:Asb2	UTSW	12	103,290,096 (GRCm39)	missense	possibly damaging	0.95
R5916:Asb2	UTSW	12	103,290,135 (GRCm39)	missense	probably damaging	1.00
R5946:Asb2	UTSW	12	103,287,814 (GRCm39)	missense	probably benign	0.00
R6349:Asb2	UTSW	12	103,312,118 (GRCm39)	start codon destroyed	probably null	0.07
R6605:Asb2	UTSW	12	103,311,943 (GRCm39)	missense	probably benign	0.02
R7317:Asb2	UTSW	12	103,299,616 (GRCm39)	missense	probably damaging	0.99
R8720:Asb2	UTSW	12	103,291,680 (GRCm39)	missense	probably damaging	1.00
R8828:Asb2	UTSW	12	103,304,457 (GRCm39)	missense	probably benign	0.00
R8873:Asb2	UTSW	12	103,299,725 (GRCm39)	missense	probably damaging	0.98
R8878:Asb2	UTSW	12	103,290,138 (GRCm39)	missense	possibly damaging	0.73
R9304:Asb2	UTSW	12	103,302,225 (GRCm39)	missense	probably damaging	0.99
R9352:Asb2	UTSW	12	103,296,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAAAGACTTGGGCCACAG -3'
(R):5'- AGATGGCGACTGAGATCTCC -3'

Sequencing Primer
(F):5'- TGACCCCAAACAGTGACGTTAGATG -3'
(R):5'- ACTGAGATCTCCACTCGGG -3'

Posted On

2022-05-16