Mutagenetix > Incidental Mutation

Incidental Mutation 'R4527:Asb3'

334490

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

041768-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R4527 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30885416-31102704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31058933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

Ref Sequence

ENSEMBL: ENSMUSP00000144900 (fasta)

Gene Model

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

AlphaFold

Q9WV72

Predicted Effect

probably benign
Transcript: ENSMUST00000020551
AA Change: D239G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: D239G

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: ENSMUST00000117883
AA Change: D239G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: D239G

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

noncoding transcript
Transcript: ENSMUST00000148808

Predicted Effect

probably benign
Transcript: ENSMUST00000203878
AA Change: D278G

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: D278G

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

0.2063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	G	5: 137,684,536	V15A	unknown	Het
Atrn	T	C	2: 130,973,504	I780T	probably benign	Het
Car2	C	T	3: 14,898,005	P200L	probably damaging	Het
Cars	A	T	7: 143,565,049	M668K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cer1	A	G	4: 82,884,669	F139L	possibly damaging	Het
Crhr2	T	A	6: 55,132,853		probably benign	Het
Dnah7c	G	A	1: 46,532,931	E855K	probably benign	Het
Espn	C	T	4: 152,135,649	R339Q	probably damaging	Het
Flt3	T	A	5: 147,356,353	E481V	probably benign	Het
Gorab	T	G	1: 163,397,136	K32T	possibly damaging	Het
Mak16	G	A	8: 31,166,177	Q93*	probably null	Het
Muc4	T	C	16: 32,755,843		probably benign	Het
Neb	A	T	2: 52,193,237	I5409N	probably benign	Het
Olfm4	C	T	14: 80,021,224	S304F	probably benign	Het
Pask	A	G	1: 93,320,502	F1026L	probably benign	Het
Rab11a	A	G	9: 64,725,568	S19P	probably benign	Het
Rab11fip3	T	C	17: 26,036,657	D541G	probably damaging	Het
Rnf10	T	C	5: 115,260,151	S108G	probably damaging	Het
Rps4l-ps	C	T	7: 114,927,168		noncoding transcript	Het
Shank1	A	T	7: 44,354,590	H1902L	possibly damaging	Het
Slc8a3	T	C	12: 81,315,853	Y64C	probably damaging	Het
Sorbs3	A	C	14: 70,207,617	I4S	probably damaging	Het
St18	A	G	1: 6,855,423	N935S	probably damaging	Het
Taf4b	T	C	18: 14,821,442	V525A	probably damaging	Het
Timm10b	A	G	7: 105,682,806	N828S	probably benign	Het
Ttyh1	A	T	7: 4,119,764	D4V	probably damaging	Het
Usp34	T	A	11: 23,421,257	L53Q	possibly damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r70	A	T	7: 85,559,579	N563K	probably damaging	Het
Xrcc5	C	A	1: 72,312,500	N76K	probably damaging	Het
Zscan25	T	C	5: 145,283,458	V21A	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
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
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'- CCAGTAAGGGTGAAAGTGTTTG -3'
(R):5'- GAAAGGAATGACCAAGCATTTTACCTG -3'

Sequencing Primer
(F):5'- GCTGCTTGAAATTTATGTTTTCAGC -3'
(R):5'- CCTGGAGGTAAAGAGTCTGACTC -3'

Posted On

2015-08-18