Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Asb3'

399316

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

042756-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R5176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30885416-31102704 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 31081357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]

AlphaFold

Q9WV72

Predicted Effect

probably null
Transcript: ENSMUST00000020551

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART
SOCS_box	460	502	2.1e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117883

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137306

SMART Domains

Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	4.3e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000203878

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
ANK	48	77	3.5e-2	SMART
ANK	81	110	8e-3	SMART
ANK	117	146	4.8e-5	SMART
ANK	150	179	1.7e-7	SMART
ANK	184	213	1.8e-4	SMART
ANK	217	246	1.8e-6	SMART
ANK	250	279	1.2e-7	SMART
ANK	285	315	1.1e0	SMART
ANK	318	347	1.2e-3	SMART
ANK	354	385	7.7e-1	SMART
SOCS	493	542	2.8e-4	SMART
SOCS_box	499	541	1.6e-17	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca7	C	A	10: 79,998,289	H116Q	probably benign	Het
Akap12	G	T	10: 4,353,947	E252D	probably benign	Het
Apobr	A	G	7: 126,585,016	D2G	probably damaging	Het
Arhgef12	A	T	9: 43,020,686	H168Q	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,635,131	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 55,060,470	A42T	probably benign	Het
Cds1	G	T	5: 101,781,420	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,637,026	D989E	probably benign	Het
Cpsf6	C	A	10: 117,361,284		probably benign	Het
Ctif	C	T	18: 75,637,219	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dao	T	C	5: 114,020,009		probably null	Het
Dopey1	T	A	9: 86,521,815	N1689K	probably damaging	Het
Dopey2	A	G	16: 93,740,043	Y14C	probably damaging	Het
E130309D02Rik	G	T	5: 143,315,075	S7*	probably null	Het
Fam160b1	A	G	19: 57,371,181	N51S	probably damaging	Het
Fam187a	C	T	11: 102,886,464	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,731,439		probably benign	Het
Fkbp15	G	T	4: 62,312,323	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208	V118F	probably damaging	Het
Gm11492	T	A	11: 87,567,532	M244K	probably benign	Het
Gm13991	T	A	2: 116,528,027		noncoding transcript	Het
H2-M9	T	C	17: 36,641,631	I174M	probably damaging	Het
Insr	T	A	8: 3,158,742	M1240L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,152,812	E95D	probably benign	Het
March9	T	C	10: 127,059,450	D102G	probably benign	Het
Muc19	A	G	15: 91,892,180		noncoding transcript	Het
Nr1h4	T	A	10: 89,498,255	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,948,802	M1K	probably null	Het
Olfr561	T	A	7: 102,775,306	S261T	probably damaging	Het
Olfr836	A	T	9: 19,121,360	Y132F	probably damaging	Het
Olfr998	A	C	2: 85,591,435	K298N	possibly damaging	Het
Oprd1	T	C	4: 132,113,793	T285A	probably benign	Het
Optc	T	C	1: 133,902,084	N196S	probably benign	Het
Panx2	G	T	15: 89,060,228	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pot1b	T	A	17: 55,699,995	T41S	probably benign	Het
Prss56	T	C	1: 87,184,158	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,156,415	T870A	probably damaging	Het
Rabep2	C	A	7: 126,434,293		probably benign	Het
Rbm48	A	C	5: 3,595,444	V80G	probably damaging	Het
Rhou	G	T	8: 123,654,109	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,602,042	D45G	probably benign	Het
Rusc1	A	G	3: 89,089,082	S109P	probably damaging	Het
Ryr3	T	C	2: 112,757,667	D2643G	possibly damaging	Het
Sik2	T	C	9: 50,899,403	E471G	probably benign	Het
Sipa1	A	G	19: 5,659,378	S310P	probably damaging	Het
Spen	T	C	4: 141,476,276	E1680G	unknown	Het
Steap3	C	T	1: 120,243,767		probably null	Het
Tmeff2	T	A	1: 51,071,541	C171*	probably null	Het
Tmem138	A	T	19: 10,575,270	M33K	probably benign	Het
Trappc11	C	A	8: 47,510,963	V601L	possibly damaging	Het
Ttc30a2	T	C	2: 75,977,077	M364V	probably benign	Het
Ttll4	C	A	1: 74,679,286	H99N	probably damaging	Het
Uchl4	A	T	9: 64,235,740	K168*	probably null	Het
Wdr17	C	T	8: 54,653,878		probably null	Het
Xpo1	A	G	11: 23,295,977	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,591,125	K712N	probably damaging	Het

Other mutations in Asb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02879:Asb3	APN	11	31101067	missense	probably damaging	1.00
IGL02932:Asb3	APN	11	31029067	critical splice donor site	probably null
Kickbox	UTSW	11	30998326	missense	probably damaging	1.00
low_blow	UTSW	11	30998348	nonsense	probably null
Octagon	UTSW	11	30998321	missense	probably benign	0.34
penalty	UTSW	11	31081357	splice site	probably null
sixpack	UTSW	11	31085143	missense	probably benign
R0573:Asb3	UTSW	11	31061406	missense	probably damaging	0.99
R1395:Asb3	UTSW	11	31101032	splice site	probably benign
R1545:Asb3	UTSW	11	31056217	missense	probably benign	0.00
R2108:Asb3	UTSW	11	31081355	splice site	probably null
R2364:Asb3	UTSW	11	31101192	missense	probably benign	0.01
R4527:Asb3	UTSW	11	31058933	missense	probably benign	0.30
R5019:Asb3	UTSW	11	31081415	missense	possibly damaging	0.95
R5344:Asb3	UTSW	11	31101114	missense	probably benign	0.01
R5734:Asb3	UTSW	11	31029021	missense	probably damaging	1.00
R6251:Asb3	UTSW	11	31055559	missense	probably damaging	1.00
R6265:Asb3	UTSW	11	31085143	missense	probably benign
R6747:Asb3	UTSW	11	31081493	missense	probably benign	0.01
R6827:Asb3	UTSW	11	31101211	missense	probably benign	0.00
R6928:Asb3	UTSW	11	30998326	missense	probably damaging	1.00
R7048:Asb3	UTSW	11	31101121	missense	probably damaging	1.00
R7087:Asb3	UTSW	11	30998321	missense	probably benign	0.34
R7135:Asb3	UTSW	11	30998501	nonsense	probably null
R7165:Asb3	UTSW	11	31029029	missense	probably damaging	0.99
R7200:Asb3	UTSW	11	30998348	nonsense	probably null
R7265:Asb3	UTSW	11	30998495	missense	probably benign	0.02
R7509:Asb3	UTSW	11	30998507	missense	probably benign	0.12
R7674:Asb3	UTSW	11	31081435	missense	possibly damaging	0.92
R8029:Asb3	UTSW	11	31101180	nonsense	probably null
R8034:Asb3	UTSW	11	31081554	nonsense	probably null
R8061:Asb3	UTSW	11	30998447	missense	probably damaging	1.00
R8724:Asb3	UTSW	11	31101120	missense	probably damaging	1.00
R8952:Asb3	UTSW	11	31058959	missense	probably damaging	1.00
R9310:Asb3	UTSW	11	31028962	missense	probably benign	0.34
R9381:Asb3	UTSW	11	31101088	missense	probably damaging	1.00
R9708:Asb3	UTSW	11	31101075	missense	probably benign	0.03
R9711:Asb3	UTSW	11	31081400	missense	probably damaging	1.00
R9716:Asb3	UTSW	11	31081460	missense	probably benign	0.03
R9747:Asb3	UTSW	11	31058946	missense	possibly damaging	0.69
RF016:Asb3	UTSW	11	31061407	missense	possibly damaging	0.95
X0024:Asb3	UTSW	11	31058950	missense	probably damaging	0.97
Z1177:Asb3	UTSW	11	31058965	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCATGTAAAAGCCATTGGTTATACC -3'
(R):5'- GGGTCAAATCCAGCAAGCAG -3'

Sequencing Primer
(F):5'- ACCAAGTGCTATTTTCATTTCCAG -3'
(R):5'- TCCAGCAAGCAGGAGATGTG -3'

Posted On

2016-07-06