Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01153:Ankrd22'

53309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd22

Ensembl Gene

ENSMUSG00000024774

Gene Name

ankyrin repeat domain 22

Synonyms

D19Ertd675e, 5430429D21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01153

Quality Score

Status

Chromosome

Chromosomal Location

34099949-34143441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34106229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 81 (V81E)

Ref Sequence

ENSEMBL: ENSMUSP00000025686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025686]

AlphaFold

Q9D3J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025686
AA Change: V81E

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

SMART Domains

Protein: ENSMUSP00000025686
Gene: ENSMUSG00000024774
AA Change: V81E

Domain	Start	End	E-Value	Type
ANK	39	68	1.1e-6	SMART
ANK	72	130	2.05e2	SMART
ANK	134	163	1.68e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160474

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,247 (GRCm39)	I5309V	probably benign	Het
Amy1	A	G	3: 113,349,724 (GRCm39)	V482A	possibly damaging	Het
Ccr5	C	A	9: 123,924,649 (GRCm39)	T84K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chchd3	A	T	6: 32,985,502 (GRCm39)		probably benign	Het
Cpt1c	C	T	7: 44,616,092 (GRCm39)	E307K	probably damaging	Het
Cyth2	T	C	7: 45,457,813 (GRCm39)	Y120C	probably damaging	Het
Dnajb11	T	A	16: 22,681,430 (GRCm39)	D69E	probably benign	Het
Ece2	T	A	16: 20,451,544 (GRCm39)	M215K	possibly damaging	Het
Enox2	C	A	X: 48,151,015 (GRCm39)		probably null	Het
Fam120c	T	C	X: 150,182,801 (GRCm39)		probably null	Het
Fam149b	A	G	14: 20,427,949 (GRCm39)	T319A	possibly damaging	Het
Fndc1	A	T	17: 7,998,874 (GRCm39)		probably null	Het
Gcsh	T	A	8: 117,710,549 (GRCm39)	D138V	probably benign	Het
Herc3	T	A	6: 58,837,321 (GRCm39)	H331Q	probably benign	Het
Iars1	A	G	13: 49,865,281 (GRCm39)	N586D	probably damaging	Het
Idh3g	A	G	X: 72,823,668 (GRCm39)	V280A	probably damaging	Het
Kctd18	A	G	1: 58,004,550 (GRCm39)	S115P	probably damaging	Het
Lims2	A	G	18: 32,090,370 (GRCm39)		probably null	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Mael	T	C	1: 166,029,919 (GRCm39)	K334E	possibly damaging	Het
Me3	A	C	7: 89,498,844 (GRCm39)	T475P	probably damaging	Het
Mrpl18	A	G	17: 13,134,693 (GRCm39)	L24P	possibly damaging	Het
Nol4	C	A	18: 22,902,850 (GRCm39)	R460L	probably damaging	Het
Numa1	A	T	7: 101,643,951 (GRCm39)	E181V	probably damaging	Het
Or6c2	T	A	10: 129,362,864 (GRCm39)	I256N	probably damaging	Het
Pex2	A	T	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Pex3	A	T	10: 13,428,597 (GRCm39)		probably null	Het
Psmb8	A	G	17: 34,420,215 (GRCm39)	Y269C	possibly damaging	Het
Sh2d3c	A	G	2: 32,615,096 (GRCm39)	K62R	probably benign	Het
Strn4	G	A	7: 16,571,846 (GRCm39)	G613D	probably damaging	Het
Taok2	A	G	7: 126,470,204 (GRCm39)	W875R	probably damaging	Het
Tbc1d4	T	C	14: 101,845,451 (GRCm39)	D149G	possibly damaging	Het
Zfp473	A	G	7: 44,383,992 (GRCm39)	S113P	probably damaging	Het
Zfp768	A	G	7: 126,943,703 (GRCm39)	Y145H	possibly damaging	Het
Zgrf1	G	A	3: 127,396,055 (GRCm39)	G534R	probably damaging	Het

Other mutations in Ankrd22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02800:Ankrd22	APN	19	34,143,181 (GRCm39)	utr 5 prime	probably benign
IGL03167:Ankrd22	APN	19	34,143,174 (GRCm39)	start codon destroyed	probably null	0.77
R1993:Ankrd22	UTSW	19	34,143,174 (GRCm39)	start codon destroyed	probably null	0.77
R4659:Ankrd22	UTSW	19	34,102,968 (GRCm39)	missense	probably damaging	0.98
R4906:Ankrd22	UTSW	19	34,126,752 (GRCm39)	missense	possibly damaging	0.91
R6216:Ankrd22	UTSW	19	34,101,569 (GRCm39)	splice site	probably null
R6881:Ankrd22	UTSW	19	34,126,782 (GRCm39)	missense	probably damaging	1.00
R7468:Ankrd22	UTSW	19	34,126,692 (GRCm39)	missense	possibly damaging	0.95
R7526:Ankrd22	UTSW	19	34,126,765 (GRCm39)	missense	possibly damaging	0.93
R9082:Ankrd22	UTSW	19	34,126,662 (GRCm39)	missense	probably damaging	0.99
Z1177:Ankrd22	UTSW	19	34,100,891 (GRCm39)	frame shift	probably null

Posted On

2013-06-21