Mutagenetix > Incidental Mutation

Incidental Mutation 'R8720:Asb2'

670089

Institutional Source

Beutler Lab

Gene Symbol

Asb2

Ensembl Gene

ENSMUSG00000021200

Gene Name

ankyrin repeat and SOCS box-containing 2

Synonyms

1110008E15Rik

MMRRC Submission

068571-MU

Accession Numbers

Essential gene?

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

Stock #

R8720 (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 G at 103291680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 416 (Y416H)

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: Y416H

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

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: Y416H

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: Y368H

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

SMART Domains

Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: Y368H

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	T	C	11: 61,104,305 (GRCm39)	V64A	probably benign	Het
Anln	T	C	9: 22,284,573 (GRCm39)	H379R	probably benign	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,629,465 (GRCm39)		probably benign	Het
Chsy1	T	A	7: 65,821,088 (GRCm39)	M441K	possibly damaging	Het
Cmas	A	G	6: 142,716,929 (GRCm39)	K274E	probably damaging	Het
Cmip	A	G	8: 118,138,010 (GRCm39)	Y75C	probably damaging	Het
Col17a1	T	A	19: 47,637,531 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,386,893 (GRCm39)	Y1368C	unknown	Het
Cracdl	A	G	1: 37,652,522 (GRCm39)	F1095S	possibly damaging	Het
Cspg4	C	T	9: 56,794,797 (GRCm39)	T844I	probably benign	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Ect2	A	T	3: 27,169,647 (GRCm39)	N766K	probably damaging	Het
Fanci	C	A	7: 79,089,425 (GRCm39)	Q954K	possibly damaging	Het
Gm30083	A	G	14: 33,736,895 (GRCm39)	S21P	probably benign	Het
Gulo	C	T	14: 66,225,074 (GRCm39)	E422K	probably benign	Het
Helq	A	G	5: 100,914,561 (GRCm39)	V977A	probably damaging	Het
Herc1	A	G	9: 66,389,105 (GRCm39)	D3874G	probably benign	Het
Hsf4	G	T	8: 105,996,605 (GRCm39)	D34Y	probably damaging	Het
Il18	G	A	9: 50,476,684 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,508,599 (GRCm39)	E209V	probably damaging	Het
Ino80	A	T	2: 119,232,868 (GRCm39)	L1150Q	probably damaging	Het
Kif16b	A	G	2: 142,691,792 (GRCm39)	F231L	probably damaging	Het
Krtap19-4	A	G	16: 88,681,846 (GRCm39)	Y37H	unknown	Het
Lama4	A	T	10: 38,971,079 (GRCm39)	D1548V	probably damaging	Het
Lrig2	C	T	3: 104,418,998 (GRCm39)	A4T	probably damaging	Het
Lrp4	A	T	2: 91,324,459 (GRCm39)	I1265F	probably damaging	Het
Muc16	T	A	9: 18,552,896 (GRCm39)	T4466S	probably benign	Het
Myo1e	A	G	9: 70,204,570 (GRCm39)	I57V	possibly damaging	Het
Naip2	A	T	13: 100,298,630 (GRCm39)	Y469N	probably benign	Het
Nav1	G	A	1: 135,388,464 (GRCm39)	R1065C	unknown	Het
Nps	C	T	7: 134,874,045 (GRCm39)	R72C	probably damaging	Het
Nup210l	G	A	3: 90,117,681 (GRCm39)	V1796I	probably benign	Het
Pdzd7	T	C	19: 45,024,667 (GRCm39)	K451E	probably benign	Het
Pigv	A	T	4: 133,392,968 (GRCm39)	D67E	probably damaging	Het
Pik3cg	A	T	12: 32,243,688 (GRCm39)	F928I	probably benign	Het
Pkn3	A	G	2: 29,975,196 (GRCm39)	N486D	probably benign	Het
Ppp2r3d	A	G	9: 101,089,084 (GRCm39)	L413P	probably damaging	Het
Rbm45	G	T	2: 76,210,711 (GRCm39)	R414L	probably damaging	Het
Sap30l	A	T	11: 57,698,875 (GRCm39)	N116I	probably damaging	Het
Slc17a5	A	T	9: 78,485,945 (GRCm39)	F47I	probably damaging	Het
Slco1a7	A	T	6: 141,668,852 (GRCm39)	S527T	probably benign	Het
Srbd1	A	T	17: 86,358,571 (GRCm39)	D659E	probably damaging	Het
Sycp3	A	G	10: 88,298,394 (GRCm39)	Q40R	probably benign	Het
Trip13	T	C	13: 74,063,590 (GRCm39)	S374G	probably benign	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,090,715 (GRCm39)	V449I	probably benign	Het
Vmn1r211	A	T	13: 23,036,031 (GRCm39)	V212D	probably damaging	Het
Vmn2r111	T	A	17: 22,792,194 (GRCm39)	I21F	possibly damaging	Het
Zmiz2	A	T	11: 6,349,904 (GRCm39)	I491F	possibly 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
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
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'- GGCAAACATGATGGTGGCTG -3'
(R):5'- TCCTCTTACAGAATAGTGCAGATG -3'

Sequencing Primer
(F):5'- CATGATGGTGGCTGGAAAGGC -3'
(R):5'- AGATGCTGCTGCCTGTGAC -3'

Posted On

2021-04-30