Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Asb15'

60756

Institutional Source

Beutler Lab

Gene Symbol

Asb15

Ensembl Gene

ENSMUSG00000029685

Gene Name

ankyrin repeat and SOCS box-containing 15

Synonyms

4930400E23Rik

MMRRC Submission

038455-MU

Accession Numbers

Genbank: NM_080847; MGI: 1926160

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0196 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

24528144-24573164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24564393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 282 (R282Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112965 (fasta)

Gene Model

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

AlphaFold

Q8VHS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031696
AA Change: R282Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: R282Q

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: R282Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: R282Q

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hars2	C	T	18: 36,789,204	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nisch	T	C	14: 31,203,394		probably benign	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698		probably null	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	probably damaging	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
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	splice site	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
R7847:Asb15	UTSW	6	24564267	missense	probably damaging	1.00
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
R8694:Asb15	UTSW	6	24570667	missense	probably benign	0.00
R9268:Asb15	UTSW	6	24566299	missense	probably benign
Z1176:Asb15	UTSW	6	24566331	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTAACACTGCTCAGCCATCTAAGC -3'
(R):5'- ACATCCTGCAATGCTAGGAAGTAACTG -3'

Sequencing Primer
(F):5'- ATCTGTGCTATTCGAGGCAG -3'
(R):5'- TGTACTGTACACACGCCTTAG -3'

Posted On

2013-07-24