Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Asb2'

563485

Institutional Source

Beutler Lab

Gene Symbol

Asb2

Ensembl Gene

ENSMUSG00000021200

Gene Name

ankyrin repeat and SOCS box-containing 2

Synonyms

1110008E15Rik

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

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

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103287401-103322260 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103299616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 272 (I272N)

Ref Sequence

ENSEMBL: ENSMUSP00000021617 (fasta)

Gene Model

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

AlphaFold

Q8K0L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021617
AA Change: I272N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: I272N

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

probably damaging
Transcript: ENSMUST00000149431
AA Change: I224N

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

SMART Domains

Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: I224N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	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
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'- AAACCTGGCCTAAGAGTCCTCC -3'
(R):5'- TTCAGGGCTACACTGACTGTC -3'

Sequencing Primer
(F):5'- GGCCTAAGAGTCCTCCACACAG -3'
(R):5'- CAGCCTGTGAGCGCAAGAAC -3'

Posted On

2019-06-26