Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Asb3'

617837

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: 0.278) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30885416-31102704 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31101180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 506 (R506*)

Ref Sequence

ENSEMBL: ENSMUSP00000020551 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably null
Transcript: ENSMUST00000020551
AA Change: R506*

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: R506*

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 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: R545*

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: R545*

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	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
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'- TGCCTTGATACAGGGTCTCTC -3'
(R):5'- GATGGATAAGGTTCACAATATTGGG -3'

Sequencing Primer
(F):5'- GAAGTTCAAACTCAGGTCGTCATGC -3'
(R):5'- CACAATATTGGGAAAGACACAAACTG -3'

Posted On

2020-01-23