Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Asb3'

618141

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30885416-31102704 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 31081554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 391 (Y391*)

Ref Sequence

ENSEMBL: ENSMUSP00000020551 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably null
Transcript: ENSMUST00000020551
AA Change: Y391*

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: Y391*

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
AA Change: Y391*

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: Y391*

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
AA Change: Y430*

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: Y430*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	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
R5176:Asb3	UTSW	11	31081357	splice site	probably null
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
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'- GTCAATACTCTCACGCAATGCAG -3'

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

Posted On

2020-01-23