Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Asb2'

461351

Institutional Source

Beutler Lab

Gene Symbol

Asb2

Ensembl Gene

ENSMUSG00000021200

Gene Name

ankyrin repeat and SOCS box-containing 2

Synonyms

1110008E15Rik

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

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

Stock #

R5916 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

103287401-103322260 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103290135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 504 (A504E)

Ref Sequence

ENSEMBL: ENSMUSP00000117595 (fasta)

Gene Model

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

AlphaFold

Q8K0L0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021617
AA Change: A552E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: A552E

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: A504E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: A504E

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,550 (GRCm39)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,283,006 (GRCm39)	V1161F	possibly damaging	Het
Adam3	A	T	8: 25,174,555 (GRCm39)		probably null	Het
Agt	A	T	8: 125,290,597 (GRCm39)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,512,181 (GRCm39)	F674L	probably benign	Het
Atp13a1	T	A	8: 70,259,748 (GRCm39)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,112,978 (GRCm39)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm39)	T95A	probably benign	Het
Cfap210	A	T	2: 69,619,806 (GRCm39)	M1K	probably null	Het
Clrn1	T	C	3: 58,753,783 (GRCm39)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,379,873 (GRCm39)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,408,373 (GRCm39)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,428,073 (GRCm39)	I233N	possibly damaging	Het
Dsc3	T	C	18: 20,120,077 (GRCm39)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,401,460 (GRCm39)	R36S	probably damaging	Het
Fam243	T	A	16: 92,117,559 (GRCm39)	E243V	probably damaging	Het
Fmnl3	A	T	15: 99,219,709 (GRCm39)	C680S	probably damaging	Het
Focad	T	C	4: 88,275,778 (GRCm39)	L1129P	unknown	Het
Fzd3	G	A	14: 65,440,178 (GRCm39)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,766,032 (GRCm39)	I129V	probably benign	Het
Heatr1	T	C	13: 12,449,352 (GRCm39)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,623,188 (GRCm39)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,286,151 (GRCm39)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,447,084 (GRCm39)	C612S	probably damaging	Het
Il36g	T	G	2: 24,082,806 (GRCm39)	*194E	probably null	Het
Junb	T	C	8: 85,704,505 (GRCm39)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,057,243 (GRCm39)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,865,538 (GRCm39)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,323,027 (GRCm39)	T68S	probably benign	Het
Marchf1	G	T	8: 66,839,763 (GRCm39)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,333,882 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,793 (GRCm39)	S2708T	probably benign	Het
Mx1	T	C	16: 97,252,933 (GRCm39)	T396A	probably benign	Het
Naip5	A	C	13: 100,359,209 (GRCm39)	S676A	probably benign	Het
Npepl1	G	T	2: 173,963,337 (GRCm39)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,956,543 (GRCm39)	M1V	probably null	Het
Nufip1	T	C	14: 76,372,340 (GRCm39)	*485Q	probably null	Het
Ocln	T	G	13: 100,642,687 (GRCm39)	D216A	possibly damaging	Het
Or10x1	A	T	1: 174,196,698 (GRCm39)	T72S	probably damaging	Het
Or1o11	C	T	17: 37,756,570 (GRCm39)	L53F	probably benign	Het
Or4f57	A	G	2: 111,791,175 (GRCm39)	M81T	probably damaging	Het
Or55b4	G	A	7: 102,133,586 (GRCm39)	S247F	probably damaging	Het
Ptprq	A	T	10: 107,359,374 (GRCm39)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rfx8	T	C	1: 39,727,779 (GRCm39)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,979,541 (GRCm39)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,430,931 (GRCm39)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,312 (GRCm39)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,809,317 (GRCm39)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,098,809 (GRCm39)	K12E	possibly damaging	Het
Tent2	T	C	13: 93,312,055 (GRCm39)	D215G	probably damaging	Het
Tmcc2	C	T	1: 132,285,429 (GRCm39)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,398,587 (GRCm39)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,741,513 (GRCm39)	L732P	probably damaging	Het
U2af2	A	T	7: 5,082,179 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,540,795 (GRCm39)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,193,816 (GRCm39)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,142,112 (GRCm39)	M3K	possibly damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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
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'- ACCTAGCTATGCGACTCTGG -3'
(R):5'- GTCAGGTAGTAGATGCCAGTG -3'

Sequencing Primer
(F):5'- ATATGGGTCACACTGCCTGAG -3'
(R):5'- TAGTAGATGCCAGTGCCCAG -3'

Posted On

2017-02-28