Mutagenetix > Incidental Mutation

Incidental Mutation 'R8769:Asb6'

664270

Institutional Source

Beutler Lab

Gene Symbol

Asb6

Ensembl Gene

ENSMUSG00000039483

Gene Name

ankyrin repeat and SOCS box-containing 6

Synonyms

2510004M11Rik

MMRRC Submission

068624-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30713109-30718312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30718143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 19 (D19G)

Ref Sequence

ENSEMBL: ENSMUSP00000043462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000129628]

AlphaFold

Q91ZU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041726
AA Change: D19G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: D19G

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

possibly damaging
Transcript: ENSMUST00000129628
AA Change: D19G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,589 (GRCm39)	N289K	unknown	Het
Adgrl2	T	C	3: 148,522,917 (GRCm39)	I436V		Het
Agbl3	C	T	6: 34,834,549 (GRCm39)	S911L	probably damaging	Het
Ampd2	C	T	3: 107,982,613 (GRCm39)	M714I	probably damaging	Het
Atosa	C	A	9: 74,933,107 (GRCm39)	L1025I	probably damaging	Het
Bbx	T	C	16: 50,061,227 (GRCm39)	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,420,263 (GRCm39)	M1223K	probably benign	Het
Ccr3	T	A	9: 123,829,096 (GRCm39)	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,503,105 (GRCm39)	F32L		Het
Clhc1	G	A	11: 29,511,401 (GRCm39)	E293K	probably damaging	Het
Col22a1	A	T	15: 71,878,571 (GRCm39)	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,003 (GRCm39)	D1512V	probably damaging	Het
Cul9	T	C	17: 46,832,828 (GRCm39)	T1372A	possibly damaging	Het
Dyrk4	G	T	6: 126,857,208 (GRCm39)	D490E	possibly damaging	Het
E4f1	C	T	17: 24,663,574 (GRCm39)	V626M	probably damaging	Het
Edc3	C	T	9: 57,634,678 (GRCm39)	R232C	probably damaging	Het
Eppk1	A	G	15: 75,994,895 (GRCm39)	I662T	probably benign	Het
G3bp2	C	T	5: 92,231,356 (GRCm39)		probably benign	Het
Grik3	T	C	4: 125,550,166 (GRCm39)	L397P	probably damaging	Het
Hectd4	A	G	5: 121,419,936 (GRCm39)	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,952,507 (GRCm39)	V909I	probably benign	Het
Hsd17b12	A	T	2: 93,945,397 (GRCm39)	M75K	probably damaging	Het
Htt	C	T	5: 34,977,633 (GRCm39)	T809I	probably benign	Het
Itih1	A	G	14: 30,655,381 (GRCm39)	S609P	probably damaging	Het
Klk1b9	T	A	7: 43,629,666 (GRCm39)	C234S	probably damaging	Het
Lrrc37a	A	G	11: 103,389,536 (GRCm39)	L1963P	probably benign	Het
Lypd3	C	A	7: 24,337,932 (GRCm39)	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390 (GRCm39)	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,297,126 (GRCm39)	S325G	probably benign	Het
Muc5ac	G	A	7: 141,372,609 (GRCm39)	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,612,696 (GRCm39)	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,274,370 (GRCm39)	H260Q	probably damaging	Het
Ngef	A	G	1: 87,408,883 (GRCm39)	L519P	probably damaging	Het
Or5ac20	A	G	16: 59,104,194 (GRCm39)	L222P	probably damaging	Het
Or5b102	T	A	19: 13,041,307 (GRCm39)	C177*	probably null	Het
Or5w1b	A	T	2: 87,475,960 (GRCm39)	F169Y	probably damaging	Het
Pcca	A	G	14: 122,854,260 (GRCm39)	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp6r1	A	T	7: 4,644,289 (GRCm39)	V379E	probably benign	Het
Prkca	A	T	11: 107,842,286 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,100,442 (GRCm39)	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,509,838 (GRCm39)	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,979,212 (GRCm39)		probably benign	Het
Sec62	T	C	3: 30,864,177 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,670,086 (GRCm39)	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,434,192 (GRCm39)		probably null	Het
Smarcd3	T	C	5: 24,803,792 (GRCm39)	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,647,356 (GRCm39)	D77E	probably benign	Het
Thbs3	G	A	3: 89,131,937 (GRCm39)		probably benign	Het
Trpm2	A	T	10: 77,768,128 (GRCm39)	N790K	probably benign	Het
Ttc13	A	T	8: 125,405,816 (GRCm39)	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,828,545 (GRCm39)	L235P	probably damaging	Het
Tyms	T	C	5: 30,278,360 (GRCm39)		probably benign	Het
Whamm	A	T	7: 81,234,933 (GRCm39)	K333*	probably null	Het
Ydjc	A	G	16: 16,968,732 (GRCm39)	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,313,416 (GRCm39)	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,581,127 (GRCm39)	E55K	possibly 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
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
R9360:Asb6	UTSW	2	30,714,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGCACAAGCACTCCGAAG -3'
(R):5'- GTAGGAGTGGTAGGATAACTTCC -3'

Sequencing Primer
(F):5'- TGCTGTCTGCCGAAAGTC -3'
(R):5'- GGTCTGAACCGGTAGATC -3'

Posted On

2021-03-08