Mutagenetix > Incidental Mutation

Incidental Mutation 'R2376:Asb6'

248274

Institutional Source

Beutler Lab

Gene Symbol

Asb6

Ensembl Gene

ENSMUSG00000039483

Gene Name

ankyrin repeat and SOCS box-containing 6

Synonyms

2510004M11Rik

Accession Numbers

Essential gene?

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

Stock #

R2376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30713109-30718312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30714414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 232 (M232T)

Ref Sequence

ENSEMBL: ENSMUSP00000043462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]

AlphaFold

Q91ZU1

Predicted Effect

probably benign
Transcript: ENSMUST00000041726
AA Change: M232T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: M232T

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: ENSMUST00000127566

SMART Domains

Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	118	6.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128303

SMART Domains

Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	78	1.8e-30	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

noncoding transcript
Transcript: ENSMUST00000147414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144330

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143970

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,889,812 (GRCm39)	V254E	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
Ankrd13d	T	A	19: 4,322,623 (GRCm39)	I350F	possibly damaging	Het
Cacna1g	A	G	11: 94,356,734 (GRCm39)	V134A	probably damaging	Het
Catsperz	A	T	19: 6,902,266 (GRCm39)	L76H	probably damaging	Het
Eno4	T	C	19: 58,941,658 (GRCm39)	V17A	probably benign	Het
Hrob	A	G	11: 102,141,542 (GRCm39)	D14G	probably benign	Het
Ltn1	A	G	16: 87,217,695 (GRCm39)		probably null	Het
Myh9	G	T	15: 77,667,617 (GRCm39)	D605E	probably benign	Het
Obscn	C	T	11: 58,959,950 (GRCm39)	A3515T	probably damaging	Het
Pck1	A	G	2: 172,998,909 (GRCm39)	K389R	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Plce1	G	A	19: 38,766,430 (GRCm39)	V2138I	probably benign	Het
Pou4f2	T	G	8: 79,162,814 (GRCm39)	S74R	unknown	Het
Ptpn21	A	T	12: 98,654,573 (GRCm39)	M798K	possibly damaging	Het
Rhag	G	T	17: 41,122,254 (GRCm39)		probably null	Het
Utp6	C	G	11: 79,846,439 (GRCm39)	E181Q	probably damaging	Het
Vcan	G	T	13: 89,851,529 (GRCm39)	Q1144K	possibly damaging	Het
Vmn1r88	T	A	7: 12,911,785 (GRCm39)	V47D	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
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
R6370:Asb6	UTSW	2	30,717,024 (GRCm39)	missense	probably damaging	1.00
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'- GTTGAAGCCAGACCAACAGG -3'
(R):5'- CCTGTCTGTCCATAGCTGTG -3'

Sequencing Primer
(F):5'- AACAGGATGCACCGTGC -3'
(R):5'- TGGGGACACTGTATTCAC -3'

Posted On

2014-11-11