Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Anks3'

64309

Institutional Source

Beutler Lab

Gene Symbol

Anks3

Ensembl Gene

ENSMUSG00000022515

Gene Name

ankyrin repeat and sterile alpha motif domain containing 3

Synonyms

2700067D09Rik

MMRRC Submission

038345-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0051 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

4941436-4964205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 4947749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 163 (T163S)

Ref Sequence

ENSEMBL: ENSMUSP00000155720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000229017] [ENSMUST00000229765]

AlphaFold

Q9CZK6

Predicted Effect

probably benign
Transcript: ENSMUST00000023157
AA Change: T338S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: T338S

Domain	Start	End	E-Value	Type
ANK	34	64	1.25e2	SMART
ANK	68	97	9.93e-5	SMART
ANK	101	130	9.13e-4	SMART
ANK	134	163	2.45e-4	SMART
ANK	168	197	9.27e-5	SMART
ANK	201	230	5.87e2	SMART
SAM	421	487	9.8e-12	SMART
coiled coil region	500	533	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229017
AA Change: T163S

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

unknown
Transcript: ENSMUST00000229272
AA Change: T42S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229477

Predicted Effect

probably benign
Transcript: ENSMUST00000229765
AA Change: T338S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230493

Predicted Effect

probably benign
Transcript: ENSMUST00000231036

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,579,101		noncoding transcript	Het
Abr	T	A	11: 76,472,502	Q163L	probably benign	Het
AI314180	A	G	4: 58,832,729	L877S	probably damaging	Het
Ankrd11	C	A	8: 122,889,742	C2457F	probably damaging	Het
Cacna1d	G	A	14: 30,111,095	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,316,904	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,794,774	A348E	probably damaging	Het
Cfap46	A	G	7: 139,676,035	C300R	probably damaging	Het
Coq2	T	C	5: 100,663,685	N146S	probably benign	Het
Dalrd3	T	C	9: 108,572,215	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,405,374		probably benign	Het
Ddx39	A	G	8: 83,720,622	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,037,454		probably null	Het
Dmbt1	G	T	7: 131,119,496	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,521,086		probably benign	Het
Dpp7	A	G	2: 25,356,095	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,320,614	S317G	probably benign	Het
Ecsit	C	T	9: 22,076,288	V152I	probably benign	Het
Emc1	T	A	4: 139,375,163	M923K	possibly damaging	Het
Fam102a	G	A	2: 32,558,053	R58Q	possibly damaging	Het
Fcrl6	A	T	1: 172,598,753	L159Q	probably benign	Het
Frrs1	T	C	3: 116,885,297		probably benign	Het
Hspd1	A	G	1: 55,082,046		probably benign	Het
Impg2	T	A	16: 56,258,048	S458T	probably damaging	Het
Klf17	T	C	4: 117,760,392	Y256C	probably damaging	Het
Lnx2	A	G	5: 147,029,353	F319L	probably damaging	Het
Mafg	G	T	11: 120,629,604	R57S	probably damaging	Het
Med13l	T	A	5: 118,742,655	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,447,214	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Naip1	T	C	13: 100,411,001	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,369,664	S320P	probably damaging	Het
Nek11	A	G	9: 105,218,539		probably benign	Het
Nlrp2	A	T	7: 5,322,334		probably benign	Het
Odf3	C	A	7: 140,850,221		probably benign	Het
Rbm26	A	C	14: 105,152,540	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,785,022	D178G	probably damaging	Het
Rtel1	C	T	2: 181,350,656	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,537,365		probably benign	Het
Ryr3	T	C	2: 112,869,075	D890G	probably damaging	Het
Scarb1	C	A	5: 125,281,100		probably null	Het
Serpina10	A	G	12: 103,626,897		probably benign	Het
Slc12a5	T	A	2: 164,986,663	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,562,850	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,864,859	F440L	probably damaging	Het
Stac3	G	A	10: 127,508,148	R305H	probably damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Syna	A	T	5: 134,559,543	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,673,939	N401S	probably damaging	Het
Yeats2	T	A	16: 20,193,724	Y557*	probably null	Het
Zcchc11	T	G	4: 108,527,004	S1089R	probably damaging	Het
Zfp352	T	C	4: 90,224,285	S221P	probably damaging	Het
Zfp575	A	G	7: 24,586,087	V43A	probably benign	Het
Zfp775	A	G	6: 48,620,772	T527A	probably benign	Het

Other mutations in Anks3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Anks3	APN	16	4953929	missense	possibly damaging	0.93
IGL01705:Anks3	APN	16	4947723	missense	probably benign	0.00
IGL01953:Anks3	APN	16	4960544	missense	probably damaging	1.00
IGL02378:Anks3	APN	16	4950762	missense	possibly damaging	0.91
IGL03126:Anks3	APN	16	4958027	missense	probably damaging	1.00
R0051:Anks3	UTSW	16	4947749	missense	probably benign	0.16
R0661:Anks3	UTSW	16	4948334	missense	probably damaging	1.00
R0855:Anks3	UTSW	16	4955947	splice site	probably benign
R0932:Anks3	UTSW	16	4953827	missense	probably damaging	1.00
R1604:Anks3	UTSW	16	4948253	missense	probably damaging	0.99
R1773:Anks3	UTSW	16	4947294	missense	probably benign
R1846:Anks3	UTSW	16	4953884	missense	probably benign	0.07
R1928:Anks3	UTSW	16	4946054	critical splice donor site	probably null
R2323:Anks3	UTSW	16	4950770	critical splice acceptor site	probably null
R3916:Anks3	UTSW	16	4947279	missense	probably damaging	0.97
R5597:Anks3	UTSW	16	4953929	missense	possibly damaging	0.93
R5993:Anks3	UTSW	16	4958137	missense	probably damaging	1.00
R7345:Anks3	UTSW	16	4955910	missense	possibly damaging	0.88
R7373:Anks3	UTSW	16	4955871	missense	probably benign	0.00
R8710:Anks3	UTSW	16	4958112	nonsense	probably null
R9629:Anks3	UTSW	16	4957701	missense	probably damaging	0.99
R9691:Anks3	UTSW	16	4941976	missense	probably benign	0.00
R9698:Anks3	UTSW	16	4948249	missense	probably benign
Z1176:Anks3	UTSW	16	4950714	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ACACTCAAGGTTCAGAGTCCTCCAG -3'
(R):5'- GCAGTGCCTTACCAAGTTCCTGTC -3'

Sequencing Primer
(F):5'- GTCCTCCAGGCATTGTGTAGAC -3'
(R):5'- AAGTTCCTGTCTCATGCCAAG -3'

Posted On

2013-08-06