Mutagenetix > Incidental Mutation

Incidental Mutation 'R5278:Asb7'

404050

Institutional Source

Beutler Lab

Gene Symbol

Asb7

Ensembl Gene

ENSMUSG00000030509

Gene Name

ankyrin repeat and SOCS box-containing 7

Synonyms

Asb-7, D030055C23Rik

MMRRC Submission

042865-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R5278 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66294313-66339344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66328933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 36 (Q36K)

Ref Sequence

ENSEMBL: ENSMUSP00000115921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]

AlphaFold

Q91ZU0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068980

SMART Domains

Protein: ENSMUSP00000070866
Gene: ENSMUSG00000030509

Domain	Start	End	E-Value	Type
ANK	13	42	4.44e2	SMART
ANK	46	75	2.68e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124899
AA Change: Q36K

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: Q36K

Domain	Start	End	E-Value	Type
ANK	13	42	4.44e2	SMART
ANK	46	75	2.62e-4	SMART
ANK	80	112	2.07e-2	SMART
ANK	116	145	1.61e-4	SMART
ANK	149	178	6.46e-4	SMART
ANK	180	208	2.02e3	SMART
ANK	213	242	4.82e-3	SMART
SOCS_box	275	314	1.54e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131320
AA Change: Q36K

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509
AA Change: Q36K

Domain	Start	End	E-Value	Type
ANK	13	42	4.44e2	SMART
ANK	46	75	2.68e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207210

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

98% (50/51)

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, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS 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. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	C	T	5: 35,745,500 (GRCm39)		probably benign	Het
Acvr2b	G	A	9: 119,261,555 (GRCm39)	V383I	probably damaging	Het
Akap12	T	C	10: 4,304,792 (GRCm39)	M534T	probably benign	Het
Akp3	G	A	1: 87,052,888 (GRCm39)	E26K	probably benign	Het
Alcam	A	G	16: 52,094,638 (GRCm39)	I371T	probably benign	Het
Ap2a1	T	C	7: 44,552,203 (GRCm39)	T794A	probably benign	Het
Apeh	G	A	9: 107,968,457 (GRCm39)	P349S	probably benign	Het
Asl	A	G	5: 130,047,672 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,728,129 (GRCm39)	I574N	probably damaging	Het
Bcl2l2	T	A	14: 55,122,251 (GRCm39)	I138N	probably damaging	Het
Cacna1d	C	T	14: 30,074,881 (GRCm39)		probably null	Het
Ccdc9	C	T	7: 16,012,306 (GRCm39)	W1*	probably null	Het
Cdh18	T	A	15: 23,474,244 (GRCm39)	S705T	probably benign	Het
Ces5a	A	T	8: 94,252,266 (GRCm39)	W209R	probably damaging	Het
Chpf2	T	A	5: 24,793,088 (GRCm39)		probably benign	Het
Cul9	T	A	17: 46,821,799 (GRCm39)	H1892L	probably damaging	Het
Cxcl13	A	G	5: 96,106,586 (GRCm39)	T53A	probably benign	Het
Cyp2s1	T	A	7: 25,505,309 (GRCm39)	Y385F	possibly damaging	Het
Ddx46	A	G	13: 55,823,851 (GRCm39)	E915G	probably damaging	Het
Elovl3	G	A	19: 46,122,540 (GRCm39)	V113I	probably benign	Het
Fam53c	A	T	18: 34,895,671 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,384,752 (GRCm39)	F349L	probably benign	Het
Fuz	C	T	7: 44,545,701 (GRCm39)	P9L	probably benign	Het
Igf1r	C	T	7: 67,843,166 (GRCm39)	T759M	possibly damaging	Het
Impg2	G	A	16: 56,041,880 (GRCm39)	D175N	probably benign	Het
Jade1	G	T	3: 41,543,444 (GRCm39)	R43L	possibly damaging	Het
Kntc1	A	G	5: 123,919,077 (GRCm39)	E816G	probably damaging	Het
Mettl8	A	T	2: 70,803,641 (GRCm39)	D262E	probably damaging	Het
Mrpl48	A	G	7: 100,201,790 (GRCm39)	V156A	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Myh13	A	G	11: 67,225,390 (GRCm39)	I252V	probably benign	Het
Nox4	T	C	7: 87,021,134 (GRCm39)	W449R	probably damaging	Het
Or2a52	T	C	6: 43,144,655 (GRCm39)	L221P	probably damaging	Het
Or2l5	A	T	16: 19,334,128 (GRCm39)	L86*	probably null	Het
Pank4	T	C	4: 155,056,622 (GRCm39)	L351P	probably damaging	Het
Pappa2	A	T	1: 158,609,973 (GRCm39)		probably null	Het
Peg10	CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC	CCATCAGGATGCACATCAGGATCC	6: 4,756,442 (GRCm39)		probably benign	Het
Polr3e	T	A	7: 120,522,184 (GRCm39)	I10K	possibly damaging	Het
Prkdc	T	C	16: 15,532,838 (GRCm39)	I1489T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sh3pxd2b	A	G	11: 32,331,447 (GRCm39)	D57G	probably damaging	Het
Shank2	G	A	7: 143,622,612 (GRCm39)		probably null	Het
Slc15a4	A	T	5: 127,694,033 (GRCm39)	V134E	probably damaging	Het
Slc49a4	A	G	16: 35,518,358 (GRCm39)	S452P	probably damaging	Het
Stxbp5l	G	T	16: 37,007,016 (GRCm39)	Q726K	probably benign	Het
Tesk2	T	G	4: 116,663,133 (GRCm39)		probably benign	Het
Tex2	A	G	11: 106,458,639 (GRCm39)	S264P	probably benign	Het
Tnik	A	G	3: 28,704,209 (GRCm39)	Q1003R	probably damaging	Het
Trip12	C	T	1: 84,739,868 (GRCm39)	R628H	probably damaging	Het
Vmn2r69	G	A	7: 85,060,991 (GRCm39)	H198Y	probably benign	Het

Other mutations in Asb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0471:Asb7	UTSW	7	66,328,907 (GRCm39)	missense	probably damaging	1.00
R0741:Asb7	UTSW	7	66,309,882 (GRCm39)	missense	probably benign	0.32
R1937:Asb7	UTSW	7	66,329,001 (GRCm39)	missense	probably benign	0.31
R2474:Asb7	UTSW	7	66,328,901 (GRCm39)	missense	probably damaging	1.00
R3054:Asb7	UTSW	7	66,328,959 (GRCm39)	missense	probably damaging	1.00
R5541:Asb7	UTSW	7	66,329,017 (GRCm39)	missense	probably benign	0.00
R6463:Asb7	UTSW	7	66,309,984 (GRCm39)	missense	probably damaging	1.00
R7421:Asb7	UTSW	7	66,309,868 (GRCm39)	missense	probably damaging	1.00
R7531:Asb7	UTSW	7	66,328,884 (GRCm39)	missense	probably damaging	1.00
R8044:Asb7	UTSW	7	66,309,511 (GRCm39)	missense	probably benign	0.00
R8050:Asb7	UTSW	7	66,328,932 (GRCm39)	missense	probably benign	0.22
R8145:Asb7	UTSW	7	66,309,696 (GRCm39)	missense	probably benign
R8326:Asb7	UTSW	7	66,309,675 (GRCm39)	missense	possibly damaging	0.84
R9057:Asb7	UTSW	7	66,309,395 (GRCm39)	splice site	probably benign
R9425:Asb7	UTSW	7	66,328,987 (GRCm39)	missense	possibly damaging	0.65
RF024:Asb7	UTSW	7	66,297,631 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCATTAAAATCCACATGCAAACGTG -3'
(R):5'- TGGTCAGTGAGCACAGAGTG -3'

Sequencing Primer
(F):5'- CCGTGTTCCAGAAACACT -3'
(R):5'- AGTCTAAACTGCATATGTTCTCCC -3'

Posted On

2016-07-22