Mutagenetix > Incidental Mutation

Incidental Mutation 'R9711:Asb3'

730179

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: 0.428) question?

Stock #

R9711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30904398-31052704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31031400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 340 (Y340C)

Ref Sequence

ENSEMBL: ENSMUSP00000020551 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000020551
AA Change: Y340C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: Y340C

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 damaging
Transcript: ENSMUST00000117883
AA Change: Y340C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: Y340C

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 damaging
Transcript: ENSMUST00000203878
AA Change: Y379C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: Y379C

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,275,388 (GRCm39)	D430G	probably damaging	Het
Adgrf1	T	C	17: 43,621,580 (GRCm39)	S606P	possibly damaging	Het
Afap1	A	G	5: 36,141,540 (GRCm39)	N475D	probably damaging	Het
Ahnak2	A	G	12: 112,739,468 (GRCm39)	S1535P	possibly damaging	Het
Akt1	G	T	12: 112,624,885 (GRCm39)	H194N	possibly damaging	Het
Api5	T	A	2: 94,251,812 (GRCm39)	Q396L	possibly damaging	Het
Aplp2	T	C	9: 31,083,303 (GRCm39)	N148S	probably benign	Het
Bbox1	A	T	2: 110,098,581 (GRCm39)	M332K	probably damaging	Het
Cabin1	A	T	10: 75,579,090 (GRCm39)	S449T	probably benign	Het
Carns1	A	G	19: 4,216,007 (GRCm39)	V725A	possibly damaging	Het
Cdkn1b	A	G	6: 134,898,058 (GRCm39)	K59R	possibly damaging	Het
Cdv3	A	T	9: 103,233,539 (GRCm39)	I212K	probably damaging	Het
Clec14a	T	A	12: 58,314,432 (GRCm39)	I397F	probably damaging	Het
Cnnm1	A	G	19: 43,483,469 (GRCm39)	I950V	possibly damaging	Het
Ddi2	A	G	4: 141,422,734 (GRCm39)	M326T	probably benign	Het
Dhx30	T	C	9: 109,914,103 (GRCm39)	T1065A	probably benign	Het
Eif3c	A	T	7: 126,146,674 (GRCm39)	M808K	possibly damaging	Het
Evi2	G	T	11: 79,406,971 (GRCm39)	H201Q	possibly damaging	Het
Exoc4	A	G	6: 33,452,991 (GRCm39)	T494A	unknown	Het
Fam83f	T	A	15: 80,574,819 (GRCm39)	M242K	probably damaging	Het
Fat4	T	C	3: 39,055,374 (GRCm39)	Y4198H	probably benign	Het
Fcgbp	C	A	7: 27,793,000 (GRCm39)	N1001K	probably benign	Het
Gda	G	T	19: 21,400,449 (GRCm39)	A164E	probably damaging	Het
Gm19410	T	C	8: 36,279,493 (GRCm39)	V1786A	possibly damaging	Het
Gm45871	A	G	18: 90,609,069 (GRCm39)	N82S	probably benign	Het
Gnas	T	A	2: 174,141,392 (GRCm39)	S580T	unknown	Het
Gprin1	G	A	13: 54,886,714 (GRCm39)	P520L	probably benign	Het
Gramd4	C	T	15: 86,014,751 (GRCm39)	R433C	probably damaging	Het
Ighv5-12	T	A	12: 113,665,958 (GRCm39)	T47S	probably benign	Het
Itprid1	T	G	6: 55,864,018 (GRCm39)	S115A	probably damaging	Het
Kdm5a	T	A	6: 120,367,658 (GRCm39)	L451Q	probably damaging	Het
Kif12	T	A	4: 63,084,126 (GRCm39)	R624S	probably benign	Het
Lepr	T	A	4: 101,592,851 (GRCm39)	Y155*	probably null	Het
Lnx2	T	A	5: 146,961,376 (GRCm39)	I519F	probably damaging	Het
Marchf7	T	A	2: 60,060,175 (GRCm39)	S101T	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Morc2a	T	A	11: 3,600,381 (GRCm39)	M1K	probably null	Het
Mtus1	T	C	8: 41,536,222 (GRCm39)	N498S	probably damaging	Het
Mxd1	T	A	6: 86,645,554 (GRCm39)	R46W	probably damaging	Het
Ndufa11	G	C	17: 57,024,843 (GRCm39)	A2P	possibly damaging	Het
Necab2	C	T	8: 120,198,513 (GRCm39)	H362Y	probably damaging	Het
Nphp4	G	A	4: 152,623,434 (GRCm39)	V703I	possibly damaging	Het
Nup54	T	C	5: 92,582,218 (GRCm39)	N31S	unknown	Het
Or13a23-ps1	T	A	7: 140,118,497 (GRCm39)	S22R	probably benign	Het
Or1ad6	T	C	11: 50,860,316 (GRCm39)	L157P	probably damaging	Het
Or1e34	A	T	11: 73,778,696 (GRCm39)	C167*	probably null	Het
Or8b4	A	C	9: 37,830,066 (GRCm39)	T38P	probably damaging	Het
P2rx2	T	C	5: 110,490,388 (GRCm39)	E109G	possibly damaging	Het
Pcdha7	T	C	18: 37,107,409 (GRCm39)	S145P	probably damaging	Het
Pdlim5	A	T	3: 141,948,529 (GRCm39)	V586E	probably damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Plch1	T	A	3: 63,615,176 (GRCm39)	D774V	probably damaging	Het
Plekhg3	A	T	12: 76,611,726 (GRCm39)	D335V	possibly damaging	Het
Pop1	A	G	15: 34,530,227 (GRCm39)	H905R	probably benign	Het
Ppm1k	T	C	6: 57,492,720 (GRCm39)	T189A	probably damaging	Het
Pramel13	A	G	4: 144,122,517 (GRCm39)	L9P	probably damaging	Het
Recql5	A	G	11: 115,784,367 (GRCm39)	V911A	probably damaging	Het
Rnf145	T	A	11: 44,415,830 (GRCm39)	L15*	probably null	Het
Rpl13a	A	G	7: 44,776,673 (GRCm39)	V29A	probably benign	Het
Rps6ka5	A	G	12: 100,540,250 (GRCm39)	V491A	probably benign	Het
Setbp1	T	C	18: 78,900,142 (GRCm39)	H1175R	probably benign	Het
Setd5	T	C	6: 113,093,063 (GRCm39)	S372P	probably damaging	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc36a2	T	C	11: 55,070,169 (GRCm39)	N136S	probably benign	Het
Spag1	G	A	15: 36,190,683 (GRCm39)		probably null	Het
Spon1	A	C	7: 113,387,685 (GRCm39)	T81P	probably damaging	Het
Sv2b	A	T	7: 74,856,238 (GRCm39)	D17E	probably benign	Het
Tasor2	A	G	13: 3,649,667 (GRCm39)	V44A	probably benign	Het
Tax1bp1	C	T	6: 52,704,215 (GRCm39)	T65I	probably damaging	Het
Tenm2	C	A	11: 35,915,341 (GRCm39)	K2065N	probably damaging	Het
Ticam2	T	C	18: 46,693,658 (GRCm39)	D143G	probably damaging	Het
Tmem132d	T	C	5: 127,869,579 (GRCm39)	E585G	possibly damaging	Het
Tnfrsf8	C	T	4: 145,019,668 (GRCm39)		probably null	Het
Trim44	C	T	2: 102,230,813 (GRCm39)	G73R	unknown	Het
Trpc3	C	T	3: 36,692,713 (GRCm39)	D760N	possibly damaging	Het
Tspan9	T	A	6: 127,942,715 (GRCm39)	M171L	probably benign	Het
Ugt2b37	A	G	5: 87,402,532 (GRCm39)	F33S	possibly damaging	Het
Vav2	A	T	2: 27,159,027 (GRCm39)	V734E	probably damaging	Het
Vmn1r214	A	G	13: 23,218,508 (GRCm39)	M1V	probably null	Het
Vmn1r24	A	T	6: 57,932,804 (GRCm39)	V238E	probably damaging	Het
Vmn2r107	A	G	17: 20,577,262 (GRCm39)	Q420R	probably damaging	Het
Vmn2r31	G	A	7: 7,387,085 (GRCm39)	P829S	probably damaging	Het
Xpo6	A	G	7: 125,712,873 (GRCm39)	F703L	probably benign	Het
Zfp442	T	A	2: 150,250,207 (GRCm39)	H565L	possibly damaging	Het
Zfp950	A	T	19: 61,116,000 (GRCm39)	D2E	probably damaging	Het
Zfp992	T	A	4: 146,551,345 (GRCm39)	S355R	probably damaging	Het
Zwilch	A	T	9: 64,063,303 (GRCm39)	F309Y	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
R1395:Asb3	UTSW	11	31,051,032 (GRCm39)	splice site	probably benign
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
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'- GCATGTAAAAGCCATTGGTTATACC -3'
(R):5'- AATGGGTCAAATCCAGCAAGC -3'

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

Posted On

2022-10-06