Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00495:Ankk1'

8878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankk1

Ensembl Gene

ENSMUSG00000032257

Gene Name

ankyrin repeat and kinase domain containing 1

Synonyms

9930020N01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

49415194-49427021 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49415843 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 679 (T679A)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034792]

Predicted Effect

probably benign
Transcript: ENSMUST00000034792
AA Change: T679A

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

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: T679A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	35	298	4.1e-44	PFAM
Pfam:Pkinase_Tyr	36	297	7.6e-47	PFAM
ANK	369	398	1.36e-2	SMART
ANK	402	431	4.13e-2	SMART
ANK	435	464	3.51e-5	SMART
ANK	468	497	5.62e-4	SMART
ANK	501	530	5.71e-5	SMART
ANK	534	563	1.05e-3	SMART
ANK	567	596	1.12e-3	SMART
ANK	600	629	6.12e-5	SMART
ANK	633	662	1.59e-3	SMART
ANK	666	695	3.65e-3	SMART
ANK	699	728	8.39e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000216227

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bhlhe40	T	A	6: 108,661,178	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,370,609	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,098,520	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,523,420	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,162,277	Q618R	probably benign	Het
Cog5	T	A	12: 31,837,309	N476K	probably benign	Het
Dhx36	G	A	3: 62,470,558		probably benign	Het
Dnajb8	G	T	6: 88,222,854	R124L	possibly damaging	Het
Dnajc16	A	T	4: 141,763,563		probably null	Het
Dzip1	T	C	14: 118,883,394	D717G	probably benign	Het
Eps15	G	T	4: 109,309,149	V80L	probably damaging	Het
Fmn1	G	A	2: 113,444,467		probably benign	Het
Gm12185	A	G	11: 48,907,861	S602P	probably damaging	Het
Gm28539	T	G	16: 18,954,780		probably benign	Het
Grm3	T	C	5: 9,512,290	N520S	probably benign	Het
Hivep2	A	G	10: 14,142,244	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,849,128	H143R	probably benign	Het
Igsf8	T	G	1: 172,317,544	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,714,113	S68A	probably benign	Het
Lrrc15	T	A	16: 30,274,030	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,141,631	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,601,885	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,868,493	R1332G	probably benign	Het
Plekha1	A	G	7: 130,877,839	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,734,730	H221L	probably damaging	Het
Pomt2	T	C	12: 87,124,856	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,910,971	T79N	possibly damaging	Het
Ppp4r3b	A	C	11: 29,211,782	T719P	possibly damaging	Het
Socs4	G	A	14: 47,290,252	V215I	probably benign	Het
Spg11	A	G	2: 122,094,456		probably null	Het
Stk31	T	A	6: 49,437,443	C459S	probably benign	Het
Ttn	A	G	2: 76,709,202	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,580,936		probably benign	Het
Vrk3	A	T	7: 44,769,647	K383M	probably damaging	Het
Wdr83	A	T	8: 85,079,814	N118K	probably damaging	Het

Other mutations in Ankk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ankk1	APN	9	49421900	missense	probably benign	0.30
IGL01316:Ankk1	APN	9	49420484	unclassified	probably benign
IGL01359:Ankk1	APN	9	49416028	missense	possibly damaging	0.95
IGL01464:Ankk1	APN	9	49415972	missense	probably benign	0.26
IGL01719:Ankk1	APN	9	49416781	missense	probably benign	0.08
IGL02057:Ankk1	APN	9	49416772	missense	probably damaging	1.00
IGL02549:Ankk1	APN	9	49418693	missense	probably damaging	1.00
IGL02690:Ankk1	APN	9	49421900	missense	probably damaging	0.99
IGL03083:Ankk1	APN	9	49421866	missense	probably benign	0.15
IGL03168:Ankk1	APN	9	49415768	missense	possibly damaging	0.89
IGL03289:Ankk1	APN	9	49415695	missense	probably benign	0.00
R0319:Ankk1	UTSW	9	49416071	missense	probably damaging	0.97
R0539:Ankk1	UTSW	9	49418030	missense	probably benign
R0827:Ankk1	UTSW	9	49421737	missense	possibly damaging	0.81
R1474:Ankk1	UTSW	9	49415839	missense	probably damaging	1.00
R1818:Ankk1	UTSW	9	49420425	missense	probably benign	0.06
R1851:Ankk1	UTSW	9	49415850	missense	probably benign
R2044:Ankk1	UTSW	9	49419364	critical splice donor site	probably null
R2088:Ankk1	UTSW	9	49421965	unclassified	probably benign
R2353:Ankk1	UTSW	9	49418690	missense	probably benign
R2897:Ankk1	UTSW	9	49421822	missense	probably benign	0.00
R2898:Ankk1	UTSW	9	49421822	missense	probably benign	0.00
R3121:Ankk1	UTSW	9	49426967	missense	probably benign	0.21
R3714:Ankk1	UTSW	9	49421713	missense	possibly damaging	0.92
R4455:Ankk1	UTSW	9	49418066	missense	probably benign	0.00
R4757:Ankk1	UTSW	9	49415930	missense	probably benign
R4893:Ankk1	UTSW	9	49415683	missense	probably benign	0.00
R5090:Ankk1	UTSW	9	49421763	missense	probably damaging	0.98
R5521:Ankk1	UTSW	9	49420448	missense	probably benign	0.05
R5812:Ankk1	UTSW	9	49426853	missense	probably benign	0.00
R5853:Ankk1	UTSW	9	49418695	missense	possibly damaging	0.58
R5873:Ankk1	UTSW	9	49415896	missense	probably benign	0.19
R6119:Ankk1	UTSW	9	49426883	missense	possibly damaging	0.88
R6328:Ankk1	UTSW	9	49416071	missense	possibly damaging	0.84
R6606:Ankk1	UTSW	9	49416346	missense	probably benign	0.29
R6689:Ankk1	UTSW	9	49420476	missense	probably damaging	1.00
R6745:Ankk1	UTSW	9	49416180	missense	probably benign	0.00
R6856:Ankk1	UTSW	9	49420020	missense	probably benign	0.39
R7424:Ankk1	UTSW	9	49418750	missense	possibly damaging	0.93

Posted On

2012-12-06