Mutagenetix > Incidental Mutation

Incidental Mutation 'R0178:Asb2'

37431

Institutional Source

Beutler Lab

Gene Symbol

Asb2

Ensembl Gene

ENSMUSG00000021200

Gene Name

ankyrin repeat and SOCS box-containing 2

Synonyms

1110008E15Rik

MMRRC Submission

038446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0178 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

103287401-103322260 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103291811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 324 (P324L)

Ref Sequence

ENSEMBL: ENSMUSP00000117595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431]

AlphaFold

Q8K0L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021617
AA Change: P372L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: P372L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127447

Predicted Effect

probably damaging
Transcript: ENSMUST00000149431
AA Change: P324L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: P324L

Domain	Start	End	E-Value	Type
low complexity region	15	34	N/A	INTRINSIC
ANK	56	85	1.81e2	SMART
ANK	89	119	5.45e-2	SMART
ANK	123	152	5.45e-2	SMART
ANK	156	185	2.21e-2	SMART
ANK	189	218	9.13e-4	SMART
ANK	222	251	7.42e-4	SMART
ANK	255	284	1.19e-2	SMART
ANK	288	317	5.67e0	SMART
ANK	320	349	6.02e-4	SMART
ANK	362	391	3.54e-1	SMART
ANK	392	421	6.81e-3	SMART
SOCS_box	544	583	2.51e-11	SMART

Meta Mutation Damage Score

0.9625

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 88.8%

Validation Efficiency

95% (69/73)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,533,435 (GRCm39)	N111T	probably benign	Het
Abca1	T	C	4: 53,081,953 (GRCm39)	D769G	possibly damaging	Het
Adcy6	G	T	15: 98,502,096 (GRCm39)	Q173K	probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Arfgap2	C	T	2: 91,097,706 (GRCm39)	A141V	probably benign	Het
Brd10	A	G	19: 29,732,188 (GRCm39)	S342P	probably damaging	Het
Cacna1g	G	A	11: 94,354,309 (GRCm39)	T202I	probably damaging	Het
Capn5	A	G	7: 97,782,098 (GRCm39)	L214P	probably damaging	Het
Cdh20	A	T	1: 104,902,776 (GRCm39)	D489V	possibly damaging	Het
Cers5	C	A	15: 99,644,905 (GRCm39)		probably benign	Het
Chct1	A	G	11: 85,069,264 (GRCm39)	H94R	probably benign	Het
Chrnb3	T	A	8: 27,883,392 (GRCm39)	V111D	probably damaging	Het
Clec2m	T	C	6: 129,303,786 (GRCm39)	R60G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cyp2r1	T	C	7: 114,149,643 (GRCm39)	E248G	probably damaging	Het
Dnaaf11	A	C	15: 66,325,950 (GRCm39)	D208E	probably benign	Het
Dnmt3b	A	G	2: 153,516,938 (GRCm39)	T536A	probably benign	Het
Eef2	G	A	10: 81,016,126 (GRCm39)	V496M	possibly damaging	Het
Fam118a	T	C	15: 84,930,081 (GRCm39)		probably benign	Het
Fer1l6	T	A	15: 58,509,763 (GRCm39)		probably null	Het
Fhad1	A	C	4: 141,682,651 (GRCm39)	F497V	probably benign	Het
Gbe1	G	A	16: 70,275,274 (GRCm39)	G358D	probably damaging	Het
Gdf10	A	G	14: 33,646,058 (GRCm39)	D69G	probably damaging	Het
Ggt6	A	G	11: 72,327,644 (GRCm39)	H150R	possibly damaging	Het
Gm45713	A	T	7: 44,783,882 (GRCm39)	L110Q	probably damaging	Het
Gm9847	T	C	12: 14,544,649 (GRCm39)		noncoding transcript	Het
Grwd1	T	C	7: 45,480,054 (GRCm39)	E51G	probably damaging	Het
Gvin3	A	T	7: 106,201,028 (GRCm39)	Y739N	probably damaging	Het
H13	A	G	2: 152,522,987 (GRCm39)	Y100C	probably damaging	Het
Kcne1	A	C	16: 92,145,697 (GRCm39)	M49R	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Knl1	T	A	2: 118,888,886 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,565 (GRCm39)	I150M	probably damaging	Het
Ldb2	A	T	5: 44,630,841 (GRCm39)	V300E	probably damaging	Het
Lrp1b	A	T	2: 40,615,919 (GRCm39)	C3606S	probably damaging	Het
Lrrc42	A	G	4: 107,104,917 (GRCm39)	I16T	probably damaging	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Myot	T	C	18: 44,470,053 (GRCm39)	F10S	probably damaging	Het
Nrg3	A	T	14: 38,098,413 (GRCm39)	H480Q	probably damaging	Het
Or52b2	G	A	7: 104,986,129 (GRCm39)	R265C	probably benign	Het
Or5ac23	A	T	16: 59,149,783 (GRCm39)	F30I	probably damaging	Het
Prl2c5	A	T	13: 13,366,390 (GRCm39)	D220V	probably damaging	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Serpina6	A	G	12: 103,613,172 (GRCm39)	I376T	probably damaging	Het
Sh2d2a	A	T	3: 87,756,730 (GRCm39)	T192S	probably benign	Het
Slc27a1	T	C	8: 72,037,106 (GRCm39)	Y417H	possibly damaging	Het
Slc6a1	T	G	6: 114,281,813 (GRCm39)	I32S	possibly damaging	Het
Sntb1	T	C	15: 55,769,540 (GRCm39)	T150A	probably damaging	Het
Tanc1	T	A	2: 59,665,791 (GRCm39)	C1183*	probably null	Het
Tmprss7	C	A	16: 45,511,206 (GRCm39)	W57C	probably damaging	Het
Ubac1	A	T	2: 25,911,440 (GRCm39)	V36E	possibly damaging	Het
Zfc3h1	T	C	10: 115,242,630 (GRCm39)		probably benign	Het
Zfp644	C	T	5: 106,784,771 (GRCm39)	C592Y	probably damaging	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
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
R9333:Asb2	UTSW	12	103,311,955 (GRCm39)	nonsense	probably null
R9352:Asb2	UTSW	12	103,296,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGTACACATTGTTGTTGACCAC -3'
(R):5'- TCCATGCGAGATGCTTGAAACCAC -3'

Sequencing Primer
(F):5'- ATTGTTGTTGACCACAGCGAAG -3'
(R):5'- GAGGTTTTTCAGAACTCACCAGC -3'

Posted On

2013-05-13