Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00857:Anks3'

8932

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 #

IGL00857

Quality Score

Status

Chromosome

Chromosomal Location

4759300-4782069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4771793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 77 (H77L)

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: H200L

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: H200L

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

possibly damaging
Transcript: ENSMUST00000229017
AA Change: H77L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229765
AA Change: H200L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230771

Meta Mutation Damage Score

0.0949

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,454,205 (GRCm39)	T181A	probably benign	Het
Cacna1d	A	T	14: 30,072,638 (GRCm39)	N112K	possibly damaging	Het
Cd164	A	G	10: 41,404,691 (GRCm39)	T150A	probably benign	Het
Cfap57	C	T	4: 118,470,120 (GRCm39)		probably null	Het
Cntnap2	C	A	6: 47,026,358 (GRCm39)	N61K	probably benign	Het
Cstdc1	A	G	2: 148,624,170 (GRCm39)	D48G	possibly damaging	Het
Cyp4f39	A	G	17: 32,708,631 (GRCm39)	I393V	probably benign	Het
Dcaf11	A	T	14: 55,798,742 (GRCm39)		probably benign	Het
Defb7	G	A	8: 19,547,594 (GRCm39)	R33Q	possibly damaging	Het
Dmxl2	T	C	9: 54,283,604 (GRCm39)	Y2743C	probably benign	Het
Enpp2	A	G	15: 54,739,046 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,335,465 (GRCm39)	E576D	probably benign	Het
Gfpt1	T	A	6: 87,033,145 (GRCm39)	N123K	probably damaging	Het
Hnmt	T	C	2: 23,893,795 (GRCm39)	D233G	probably benign	Het
Hsd3b2	T	A	3: 98,618,859 (GRCm39)	E362V	possibly damaging	Het
Hsdl2	T	A	4: 59,617,735 (GRCm39)	N487K	probably benign	Het
Hspa14	T	C	2: 3,503,796 (GRCm39)	Y83C	probably damaging	Het
Itm2b	T	C	14: 73,602,056 (GRCm39)	N214S	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Myocd	A	T	11: 65,069,662 (GRCm39)	V726D	possibly damaging	Het
Ncapg	T	A	5: 45,833,927 (GRCm39)		probably null	Het
Nrdc	A	T	4: 108,911,199 (GRCm39)	I774F	probably damaging	Het
Pot1a	T	C	6: 25,744,627 (GRCm39)	I626V	probably benign	Het
Prkab2	C	T	3: 97,569,659 (GRCm39)	A75V	possibly damaging	Het
Sdr9c7	A	G	10: 127,734,728 (GRCm39)	Q72R	probably benign	Het
Slc16a7	A	C	10: 125,066,803 (GRCm39)	Y279D	probably benign	Het
Slc8a1	T	A	17: 81,955,308 (GRCm39)	T577S	probably benign	Het
Slitrk3	G	A	3: 72,957,174 (GRCm39)	L533F	probably damaging	Het
Tent5a	C	A	9: 85,206,806 (GRCm39)	V331L	possibly damaging	Het
Tmeff1	T	C	4: 48,610,435 (GRCm39)	V102A	probably damaging	Het
Ttn	G	A	2: 76,583,099 (GRCm39)	T22598I	probably damaging	Het
Ube4a	C	A	9: 44,843,684 (GRCm39)	G977W	probably damaging	Het

Other mutations in Anks3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Anks3	APN	16	4,765,587 (GRCm39)	missense	probably benign	0.00
IGL01953:Anks3	APN	16	4,778,408 (GRCm39)	missense	probably damaging	1.00
IGL02378:Anks3	APN	16	4,768,626 (GRCm39)	missense	possibly damaging	0.91
IGL03126:Anks3	APN	16	4,775,891 (GRCm39)	missense	probably damaging	1.00
R0051:Anks3	UTSW	16	4,765,613 (GRCm39)	missense	probably benign	0.16
R0051:Anks3	UTSW	16	4,765,613 (GRCm39)	missense	probably benign	0.16
R0661:Anks3	UTSW	16	4,766,198 (GRCm39)	missense	probably damaging	1.00
R0855:Anks3	UTSW	16	4,773,811 (GRCm39)	splice site	probably benign
R0932:Anks3	UTSW	16	4,771,691 (GRCm39)	missense	probably damaging	1.00
R1604:Anks3	UTSW	16	4,766,117 (GRCm39)	missense	probably damaging	0.99
R1773:Anks3	UTSW	16	4,765,158 (GRCm39)	missense	probably benign
R1846:Anks3	UTSW	16	4,771,748 (GRCm39)	missense	probably benign	0.07
R1928:Anks3	UTSW	16	4,763,918 (GRCm39)	critical splice donor site	probably null
R2323:Anks3	UTSW	16	4,768,634 (GRCm39)	critical splice acceptor site	probably null
R3916:Anks3	UTSW	16	4,765,143 (GRCm39)	missense	probably damaging	0.97
R5597:Anks3	UTSW	16	4,771,793 (GRCm39)	missense	possibly damaging	0.93
R5993:Anks3	UTSW	16	4,776,001 (GRCm39)	missense	probably damaging	1.00
R7345:Anks3	UTSW	16	4,773,774 (GRCm39)	missense	possibly damaging	0.88
R7373:Anks3	UTSW	16	4,773,735 (GRCm39)	missense	probably benign	0.00
R8710:Anks3	UTSW	16	4,775,976 (GRCm39)	nonsense	probably null
R9629:Anks3	UTSW	16	4,775,565 (GRCm39)	missense	probably damaging	0.99
R9691:Anks3	UTSW	16	4,759,840 (GRCm39)	missense	probably benign	0.00
R9698:Anks3	UTSW	16	4,766,113 (GRCm39)	missense	probably benign
Z1176:Anks3	UTSW	16	4,768,578 (GRCm39)	missense	probably benign	0.38

Posted On

2012-12-06