Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01705:Anks3'

104560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anks3

Ensembl Gene

ENSMUSG00000022515

Gene Name

ankyrin repeat and sterile alpha motif domain containing 3

Synonyms

2700067D09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01705

Quality Score

Status

Chromosome

Chromosomal Location

4941436-4964205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4947723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 172 (W172R)

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: W347R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: W347R

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: W172R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

unknown
Transcript: ENSMUST00000229272
AA Change: W51R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229477

Predicted Effect

probably benign
Transcript: ENSMUST00000229765
AA Change: W347R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230493

Predicted Effect

unknown
Transcript: ENSMUST00000231036
AA Change: W5R

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,032,966	T1077A	possibly damaging	Het
Akap13	T	C	7: 75,746,767	V2504A	possibly damaging	Het
Asap2	T	A	12: 21,249,368	N633K	possibly damaging	Het
Astn1	A	T	1: 158,504,313	S326C	probably damaging	Het
Cachd1	A	G	4: 100,983,539	K900E	possibly damaging	Het
Cd5	A	T	19: 10,726,295		probably null	Het
D130043K22Rik	T	A	13: 24,857,941	N284K	probably benign	Het
Dtna	C	T	18: 23,545,731	A38V	probably damaging	Het
Eny2	C	A	15: 44,432,435		probably null	Het
Grm5	A	G	7: 88,130,046	Q930R	possibly damaging	Het
Igkv4-73	A	T	6: 69,197,725		noncoding transcript	Het
Lama2	A	T	10: 27,189,274		probably benign	Het
Lipg	A	G	18: 74,947,971		probably null	Het
Mettl7b	T	A	10: 128,958,862	I198F	probably benign	Het
Neto2	T	C	8: 85,641,003	K371E	probably damaging	Het
Olfr965	T	C	9: 39,719,581	M118T	possibly damaging	Het
Paxbp1	A	G	16: 91,016,988	F834L	probably benign	Het
Paxip1	A	T	5: 27,748,859	S946R	probably damaging	Het
Pclo	A	G	5: 14,677,865		probably benign	Het
Plcg2	T	C	8: 117,581,662	L331P	probably damaging	Het
Reep1	A	G	6: 71,773,288	T95A	probably damaging	Het
Rfx2	A	G	17: 56,785,303	Y332H	possibly damaging	Het
Smchd1	A	T	17: 71,381,398	D1288E	probably damaging	Het
Spag17	A	G	3: 100,022,730	M582V	probably benign	Het
Susd1	A	G	4: 59,332,931		probably benign	Het
Syt9	T	G	7: 107,436,352	L192R	probably damaging	Het
Tlr6	T	C	5: 64,954,130	K478R	probably benign	Het
Tmem115	G	T	9: 107,535,204	L242F	probably benign	Het
Tnfaip1	T	C	11: 78,525,468	D263G	probably benign	Het
Ubqln3	T	A	7: 104,142,677	I69F	probably damaging	Het
Vps52	T	C	17: 33,966,068	L712P	probably damaging	Het

Other mutations in Anks3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Anks3	APN	16	4953929	missense	possibly damaging	0.93
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
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

Posted On

2014-01-21