Mutagenetix > Incidental Mutations

Incidental Mutation 'R7847:Asb15'

606676

Institutional Source

Beutler Lab

Gene Symbol

Asb15

Ensembl Gene

ENSMUSG00000029685

Gene Name

ankyrin repeat and SOCS box-containing 15

Synonyms

4930400E23Rik

Accession Numbers

Genbank: NM_080847; MGI: 1926160

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24528144-24573164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24564267 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 240 (A240E)

Ref Sequence

ENSEMBL: ENSMUSP00000031696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031696] [ENSMUST00000117688]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031696
AA Change: A240E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: A240E

Domain	Start	End	E-Value	Type
ANK	110	139	1.59e-3	SMART
ANK	143	172	2.97e-3	SMART
ANK	176	205	1.93e-2	SMART
ANK	209	238	2.1e-3	SMART
ANK	242	273	5.01e-1	SMART
ANK	275	304	2.63e2	SMART
ANK	307	336	1.99e-4	SMART
ANK	349	378	5.24e-4	SMART
ANK	379	408	1.27e-2	SMART
ANK	417	444	2.35e3	SMART
SOCS_box	534	576	2.34e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117688
AA Change: A240E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: A240E

Domain	Start	End	E-Value	Type
ANK	110	139	1.59e-3	SMART
ANK	143	172	2.97e-3	SMART
ANK	176	205	1.93e-2	SMART
ANK	209	238	2.1e-3	SMART
ANK	242	273	5.01e-1	SMART
ANK	275	304	2.63e2	SMART
ANK	307	336	1.99e-4	SMART
ANK	349	378	5.24e-4	SMART
ANK	379	408	1.27e-2	SMART
ANK	417	444	2.35e3	SMART
SOCS_box	534	576	2.34e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

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 suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Ccdc17	A	G	4: 116,599,906	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lmntd2	T	C	7: 141,210,150	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in Asb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Asb15	APN	6	24558643	splice site	probably benign
IGL00557:Asb15	APN	6	24558650	missense	probably benign
IGL00694:Asb15	APN	6	24570664	missense	possibly damaging	0.79
IGL01137:Asb15	APN	6	24556522	missense	probably benign
IGL01681:Asb15	APN	6	24567138	missense	probably damaging	0.98
IGL01691:Asb15	APN	6	24567272	missense	probably benign	0.02
IGL01791:Asb15	APN	6	24567212	missense	probably damaging	1.00
IGL01989:Asb15	APN	6	24565944	missense	probably damaging	1.00
IGL02480:Asb15	APN	6	24570746	missense	probably damaging	0.99
IGL02541:Asb15	APN	6	24566266	missense	probably damaging	1.00
IGL02707:Asb15	APN	6	24558788	splice site	probably benign
IGL03090:Asb15	APN	6	24567186	missense	possibly damaging	0.52
IGL03331:Asb15	APN	6	24556524	missense	possibly damaging	0.70
3-1:Asb15	UTSW	6	24566221	missense	probably benign	0.00
BB002:Asb15	UTSW	6	24562724	missense	probably benign	0.00
BB012:Asb15	UTSW	6	24562724	missense	probably benign	0.00
R0196:Asb15	UTSW	6	24564393	missense	probably damaging	0.99
R0603:Asb15	UTSW	6	24556557	missense	probably damaging	1.00
R0650:Asb15	UTSW	6	24566164	missense	probably damaging	1.00
R1114:Asb15	UTSW	6	24567177	missense	probably damaging	1.00
R1170:Asb15	UTSW	6	24562487	splice site	probably benign
R1365:Asb15	UTSW	6	24567270	missense	possibly damaging	0.95
R2323:Asb15	UTSW	6	24556601	missense	probably benign	0.01
R3147:Asb15	UTSW	6	24566259	missense	probably damaging	1.00
R3148:Asb15	UTSW	6	24566259	missense	probably damaging	1.00
R4762:Asb15	UTSW	6	24567237	missense	possibly damaging	0.81
R4771:Asb15	UTSW	6	24570622	missense	probably damaging	0.99
R4915:Asb15	UTSW	6	24566293	missense	probably damaging	0.96
R5369:Asb15	UTSW	6	24562564	missense	probably benign	0.00
R5415:Asb15	UTSW	6	24570691	missense	probably benign	0.05
R5781:Asb15	UTSW	6	24564378	missense	probably benign	0.11
R6649:Asb15	UTSW	6	24562633	missense	probably benign
R6653:Asb15	UTSW	6	24562633	missense	probably benign
R6781:Asb15	UTSW	6	24558675	missense	probably benign
R6984:Asb15	UTSW	6	24566337	missense	probably benign	0.17
R7297:Asb15	UTSW	6	24566463	missense	probably damaging	0.96
R7340:Asb15	UTSW	6	24558514	missense	probably benign	0.00
R7419:Asb15	UTSW	6	24556556	missense	probably benign	0.08
R7549:Asb15	UTSW	6	24559030	intron	probably null
R7662:Asb15	UTSW	6	24566090	missense	probably benign	0.08
R7717:Asb15	UTSW	6	24559252	missense	probably benign
R7767:Asb15	UTSW	6	24559282	missense	probably benign
R7781:Asb15	UTSW	6	24562645	missense	probably benign	0.01
R7797:Asb15	UTSW	6	24562506	missense	probably damaging	0.98
R7925:Asb15	UTSW	6	24562724	missense	probably benign	0.00
R8055:Asb15	UTSW	6	24556566	missense	probably benign	0.05
R8304:Asb15	UTSW	6	24559297	missense	possibly damaging	0.89
Z1176:Asb15	UTSW	6	24566331	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGTGACTTGCTCTCCTTGAAAG -3'
(R):5'- AGATTGTACTGTACACACGCCTTAG -3'

Sequencing Primer
(F):5'- GACTTGCTCTCCTTGAAAGTTTAATG -3'
(R):5'- TCTGTTGGGCACATTGC -3'

Posted On

2019-12-20