Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Asb3'

547451

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

045146-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30904398-31052704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31051121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 525 (I525N)

Ref Sequence

ENSEMBL: ENSMUSP00000144900 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000020551
AA Change: I486N

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

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: I486N

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 damaging
Transcript: ENSMUST00000203878
AA Change: I525N

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

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: I525N

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: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Cdk14	T	A	5: 5,143,005 (GRCm39)	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,151,971 (GRCm39)	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,826,450 (GRCm39)	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Phactr2	T	A	10: 13,121,168 (GRCm39)	T444S	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trhr2	C	T	8: 123,085,418 (GRCm39)	D189N	probably damaging	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	probably null	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
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'- TACAGGGTCTCTCATTGGATCTG -3'
(R):5'- GTCACACAAGCCGTCTTTTG -3'

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

Posted On

2019-05-13