Mutagenetix > Incidental Mutation

Incidental Mutation 'R1395:Asb3'

162820

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

039457-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R1395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30904398-31052704 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 31051032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144900 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably benign
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 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 benign
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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
A330070K13Rik	A	G	5: 130,407,982 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,822,379 (GRCm39)	R1406G	probably benign	Het
Adgrv1	G	T	13: 81,534,907 (GRCm39)	T5786K	probably benign	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Arhgap11a	C	T	2: 113,663,467 (GRCm39)	V939I	probably benign	Het
Arhgap12	T	C	18: 6,037,058 (GRCm39)	N561S	probably benign	Het
Arhgef12	T	C	9: 42,917,166 (GRCm39)	H391R	probably damaging	Het
C2cd5	T	C	6: 143,007,464 (GRCm39)		probably benign	Het
Ccdc85a	T	C	11: 28,533,412 (GRCm39)	K44R	possibly damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Col20a1	T	A	2: 180,640,400 (GRCm39)	V519E	probably damaging	Het
Cylc2	A	G	4: 51,228,366 (GRCm39)	K146E	possibly damaging	Het
Drgx	C	T	14: 32,330,326 (GRCm39)	P148S	probably benign	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Eef1a1	C	T	9: 78,386,300 (GRCm39)	V402I	probably benign	Het
Esyt3	T	C	9: 99,198,835 (GRCm39)		probably benign	Het
Extl3	A	G	14: 65,314,945 (GRCm39)	V79A	possibly damaging	Het
Fat3	C	T	9: 16,158,212 (GRCm39)	V1133I	probably benign	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fdxacb1	TAGAC	T	9: 50,683,796 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gm8374	G	T	14: 18,537,058 (GRCm39)	N55K	probably benign	Het
Gria1	T	A	11: 57,174,392 (GRCm39)	I558N	probably damaging	Het
Gse1	G	T	8: 121,301,738 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hectd4	T	C	5: 121,466,576 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,346,463 (GRCm39)	I1943T	probably benign	Het
Ift172	T	C	5: 31,442,582 (GRCm39)		probably benign	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Lactb	T	C	9: 66,878,661 (GRCm39)		probably benign	Het
Map1a	C	T	2: 121,134,406 (GRCm39)	H1741Y	probably benign	Het
Map1lc3b	T	C	8: 122,323,459 (GRCm39)	Y110H	probably benign	Het
Mlh1	T	C	9: 111,076,445 (GRCm39)	D304G	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Ncoa4	T	A	14: 31,894,798 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,416,144 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,426,809 (GRCm39)	V1741A	possibly damaging	Het
Nkain2	C	A	10: 32,766,185 (GRCm39)		probably benign	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or51ah3	T	C	7: 103,210,326 (GRCm39)	L214P	possibly damaging	Het
Or51f23	G	A	7: 102,453,414 (GRCm39)	C243Y	possibly damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Ralgapa2	T	G	2: 146,230,420 (GRCm39)	K963N	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Sag	G	A	1: 87,756,163 (GRCm39)	V257I	probably benign	Het
Scaf1	T	C	7: 44,657,721 (GRCm39)	E386G	probably damaging	Het
Slc4a10	A	G	2: 62,143,630 (GRCm39)	E1055G	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Tgm2	T	A	2: 157,966,172 (GRCm39)	H494L	probably benign	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ugt3a1	T	G	15: 9,306,378 (GRCm39)	L176V	possibly damaging	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Wdr87-ps	T	A	7: 29,230,812 (GRCm39)		noncoding transcript	Het
Zfp322a	C	T	13: 23,540,945 (GRCm39)	V266I	probably benign	Het
Zfp663	T	C	2: 165,194,492 (GRCm39)	R576G	probably damaging	Het

Other mutations in Asb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02879:Asb3	APN	11	31,051,067 (GRCm39)	missense	probably damaging	1.00
IGL02932:Asb3	APN	11	30,979,067 (GRCm39)	critical splice donor site	probably null
Kickbox	UTSW	11	30,948,326 (GRCm39)	missense	probably damaging	1.00
low_blow	UTSW	11	30,948,348 (GRCm39)	nonsense	probably null
Octagon	UTSW	11	30,948,321 (GRCm39)	missense	probably benign	0.34
penalty	UTSW	11	31,031,357 (GRCm39)	splice site	probably null
sixpack	UTSW	11	31,035,143 (GRCm39)	missense	probably benign
R0573:Asb3	UTSW	11	31,011,406 (GRCm39)	missense	probably damaging	0.99
R1545:Asb3	UTSW	11	31,006,217 (GRCm39)	missense	probably benign	0.00
R2108:Asb3	UTSW	11	31,031,355 (GRCm39)	splice site	probably null
R2364:Asb3	UTSW	11	31,051,192 (GRCm39)	missense	probably benign	0.01
R4527:Asb3	UTSW	11	31,008,933 (GRCm39)	missense	probably benign	0.30
R5019:Asb3	UTSW	11	31,031,415 (GRCm39)	missense	possibly damaging	0.95
R5176:Asb3	UTSW	11	31,031,357 (GRCm39)	splice site	probably null
R5344:Asb3	UTSW	11	31,051,114 (GRCm39)	missense	probably benign	0.01
R5734:Asb3	UTSW	11	30,979,021 (GRCm39)	missense	probably damaging	1.00
R6251:Asb3	UTSW	11	31,005,559 (GRCm39)	missense	probably damaging	1.00
R6265:Asb3	UTSW	11	31,035,143 (GRCm39)	missense	probably benign
R6747:Asb3	UTSW	11	31,031,493 (GRCm39)	missense	probably benign	0.01
R6827:Asb3	UTSW	11	31,051,211 (GRCm39)	missense	probably benign	0.00
R6928:Asb3	UTSW	11	30,948,326 (GRCm39)	missense	probably damaging	1.00
R7048:Asb3	UTSW	11	31,051,121 (GRCm39)	missense	probably damaging	1.00
R7087:Asb3	UTSW	11	30,948,321 (GRCm39)	missense	probably benign	0.34
R7135:Asb3	UTSW	11	30,948,501 (GRCm39)	nonsense	probably null
R7165:Asb3	UTSW	11	30,979,029 (GRCm39)	missense	probably damaging	0.99
R7200:Asb3	UTSW	11	30,948,348 (GRCm39)	nonsense	probably null
R7265:Asb3	UTSW	11	30,948,495 (GRCm39)	missense	probably benign	0.02
R7509:Asb3	UTSW	11	30,948,507 (GRCm39)	missense	probably benign	0.12
R7674:Asb3	UTSW	11	31,031,435 (GRCm39)	missense	possibly damaging	0.92
R8029:Asb3	UTSW	11	31,051,180 (GRCm39)	nonsense	probably null
R8034:Asb3	UTSW	11	31,031,554 (GRCm39)	nonsense	probably null
R8061:Asb3	UTSW	11	30,948,447 (GRCm39)	missense	probably damaging	1.00
R8724:Asb3	UTSW	11	31,051,120 (GRCm39)	missense	probably damaging	1.00
R8952:Asb3	UTSW	11	31,008,959 (GRCm39)	missense	probably damaging	1.00
R9310:Asb3	UTSW	11	30,978,962 (GRCm39)	missense	probably benign	0.34
R9381:Asb3	UTSW	11	31,051,088 (GRCm39)	missense	probably damaging	1.00
R9708:Asb3	UTSW	11	31,051,075 (GRCm39)	missense	probably benign	0.03
R9711:Asb3	UTSW	11	31,031,400 (GRCm39)	missense	probably damaging	1.00
R9716:Asb3	UTSW	11	31,031,460 (GRCm39)	missense	probably benign	0.03
R9747:Asb3	UTSW	11	31,008,946 (GRCm39)	missense	possibly damaging	0.69
RF016:Asb3	UTSW	11	31,011,407 (GRCm39)	missense	possibly damaging	0.95
X0024:Asb3	UTSW	11	31,008,950 (GRCm39)	missense	probably damaging	0.97
Z1177:Asb3	UTSW	11	31,008,965 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGCCTTGATACAGGGTCTCTCATTGG -3'
(R):5'- CACACAAGCCGTCTTTTGTGACTAAAC -3'

Sequencing Primer
(F):5'- ggaggtagccagcaagc -3'
(R):5'- ATTAAAGGACCTGTGTCAGGTG -3'

Posted On

2014-03-17