Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Asb6'

513453

Institutional Source

Beutler Lab

Gene Symbol

Asb6

Ensembl Gene

ENSMUSG00000039483

Gene Name

ankyrin repeat and SOCS box-containing 6

Synonyms

2510004M11Rik

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R6370 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

30713109-30718312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30717024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 67 (V67A)

Ref Sequence

ENSEMBL: ENSMUSP00000043462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]

AlphaFold

Q91ZU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041726
AA Change: V67A

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

SMART Domains

Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: V67A

Domain	Start	End	E-Value	Type
Blast:ANK	31	63	3e-7	BLAST
ANK	66	95	1.96e3	SMART
ANK	100	129	1.91e-6	SMART
ANK	134	164	1e0	SMART
ANK	168	203	4.3e0	SMART
Blast:ANK	256	287	1e-11	BLAST
SOCS_box	370	410	1.72e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041830

SMART Domains

Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	223	2.3e-99	PFAM
Pfam:Ubie_methyltran	36	178	2.8e-7	PFAM
Pfam:Methyltransf_2	59	190	3.6e-8	PFAM
Pfam:Methyltransf_18	61	168	1.5e-9	PFAM
Pfam:Methyltransf_25	65	161	2.4e-8	PFAM
Pfam:Methyltransf_12	66	163	5.2e-11	PFAM
Pfam:Methyltransf_11	66	165	4.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129628

Predicted Effect

probably benign
Transcript: ENSMUST00000129712

SMART Domains

Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138889

SMART Domains

Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148036

Predicted Effect

probably benign
Transcript: ENSMUST00000152374

SMART Domains

Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	146	8.7e-65	PFAM
Pfam:Methyltransf_11	66	146	4.7e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably damaging	Het

Other mutations in Asb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03334:Asb6	APN	2	30,714,496 (GRCm39)	missense	probably benign	0.03
IGL03367:Asb6	APN	2	30,714,691 (GRCm39)	missense	possibly damaging	0.57
R0853:Asb6	UTSW	2	30,717,042 (GRCm39)	missense	possibly damaging	0.89
R1785:Asb6	UTSW	2	30,717,088 (GRCm39)	missense	probably damaging	0.99
R1786:Asb6	UTSW	2	30,717,088 (GRCm39)	missense	probably damaging	0.99
R2376:Asb6	UTSW	2	30,714,414 (GRCm39)	missense	probably benign	0.08
R4133:Asb6	UTSW	2	30,718,247 (GRCm39)	utr 5 prime	probably benign
R4600:Asb6	UTSW	2	30,714,483 (GRCm39)	missense	probably damaging	1.00
R5945:Asb6	UTSW	2	30,718,215 (GRCm39)	utr 5 prime	probably benign
R6031:Asb6	UTSW	2	30,714,207 (GRCm39)	missense	probably benign	0.00
R6031:Asb6	UTSW	2	30,714,207 (GRCm39)	missense	probably benign	0.00
R7499:Asb6	UTSW	2	30,714,472 (GRCm39)	missense	possibly damaging	0.84
R8710:Asb6	UTSW	2	30,717,072 (GRCm39)	missense	probably benign	0.10
R8769:Asb6	UTSW	2	30,718,143 (GRCm39)	missense	possibly damaging	0.50
R9360:Asb6	UTSW	2	30,714,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAATCACCTGCCCTTAGCTC -3'
(R):5'- GGATGCTTGTGAAAGGGCAC -3'

Sequencing Primer
(F):5'- CTCTACATGGTAGAAGGATTGATCTG -3'
(R):5'- TGTGAAAGGGCACACAGGCTAG -3'

Posted On

2018-04-27