Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Ankk1'

455317

Institutional Source

Beutler Lab

Gene Symbol

Ankk1

Ensembl Gene

ENSMUSG00000032257

Gene Name

ankyrin repeat and kinase domain containing 1

Synonyms

9930020N01Rik

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49415194-49427021 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49415896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 661 (N661S)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

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

AlphaFold

Q8BZ25

Predicted Effect

probably benign
Transcript: ENSMUST00000034792
AA Change: N661S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: N661S

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167		probably null	Het
4930505A04Rik	T	A	11: 30,426,220	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,624,768		probably benign	Het
Abcc4	G	T	14: 118,526,290	D1044E	probably benign	Het
Adgre4	A	G	17: 55,852,282	T656A	probably benign	Het
Asah2	A	G	19: 32,003,682		probably null	Het
Asxl3	A	G	18: 22,516,085	D377G	probably benign	Het
C3ar1	A	G	6: 122,850,422	S279P	probably benign	Het
C7	A	G	15: 5,005,235	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,720,934	A48S	probably benign	Het
Card11	T	A	5: 140,908,638	I79F	probably damaging	Het
Casc3	A	G	11: 98,821,444	Y103C	unknown	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Col14a1	A	G	15: 55,445,786		probably benign	Het
Cox10	A	G	11: 64,071,686	S110P	probably benign	Het
Cpt1b	T	C	15: 89,420,728	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cyp2b23	C	T	7: 26,675,006	R271H	probably benign	Het
Dnah17	T	C	11: 118,056,897	I3039V	probably benign	Het
Dnpep	T	C	1: 75,315,143	D242G	probably damaging	Het
Dock10	T	A	1: 80,574,138	N660I	probably damaging	Het
Esco2	T	C	14: 65,824,191	D471G	probably benign	Het
Evpl	A	T	11: 116,234,432	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,423,416	I142F	probably damaging	Het
Fry	C	A	5: 150,378,885	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,873,750	F92I	probably benign	Het
Galm	A	G	17: 80,138,103	E94G	probably benign	Het
Gfy	T	G	7: 45,177,580	H364P	probably damaging	Het
Helz2	A	G	2: 181,234,028	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,707,700	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 63,019,391		probably null	Het
Igkv4-90	T	A	6: 68,807,469	N21I	probably benign	Het
Kpna1	A	G	16: 36,014,228		probably benign	Het
Krt28	A	C	11: 99,366,890	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,568,975	V578A	probably damaging	Het
Lta4h	T	C	10: 93,469,190		probably null	Het
Matk	T	A	10: 81,260,129	V166E	probably benign	Het
Muc4	C	A	16: 32,751,295	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,685,665	T220S	possibly damaging	Het
Nrp1	T	C	8: 128,468,377	V438A	probably damaging	Het
Olfr1371	A	T	11: 52,213,353	L212Q	probably damaging	Het
Olfr414	T	A	1: 174,430,782	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,808,176	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,027,949	D911V	probably damaging	Het
Pkd1	A	G	17: 24,569,830	Q854R	probably benign	Het
Ppl	A	G	16: 5,106,049		probably null	Het
Ppp1r26	A	G	2: 28,451,605	T416A	probably benign	Het
Prdm15	T	C	16: 97,808,689	D585G	probably damaging	Het
Rbak	A	G	5: 143,173,711	V529A	probably benign	Het
Rc3h1	C	T	1: 160,959,501	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,786,281		probably null	Het
Taf2	T	C	15: 55,038,422	N792S	probably benign	Het
Tat	T	C	8: 109,991,949		probably null	Het
Tbx21	A	T	11: 97,114,648		probably null	Het
Txndc11	A	G	16: 11,075,205	L887P	probably damaging	Het
Usp10	A	G	8: 119,947,092	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,061,674	H736L	probably benign	Het
Vstm2a	T	A	11: 16,258,044	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,220,394	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,536,383	R36*	probably null	Het

Other mutations in Ankk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ankk1	APN	9	49421900	missense	probably benign	0.30
IGL00495:Ankk1	APN	9	49415843	missense	probably benign	0.00
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
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
R8145:Ankk1	UTSW	9	49415797	missense	possibly damaging	0.63
R8683:Ankk1	UTSW	9	49417992	missense
R9776:Ankk1	UTSW	9	49419414	missense	probably benign	0.25
Z1176:Ankk1	UTSW	9	49416643	missense	probably benign	0.01
Z1176:Ankk1	UTSW	9	49421911	missense	probably damaging	1.00
Z1177:Ankk1	UTSW	9	49415944	missense	probably damaging	0.99
Z1177:Ankk1	UTSW	9	49416487	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGACATCCACCTGTGCAG -3'
(R):5'- TACGCACACAACAGGGATGG -3'

Sequencing Primer
(F):5'- ACCTGTGCAGCAGCTTTAACTAG -3'
(R):5'- GATGGACACCCCTGCACCTAG -3'

Posted On

2017-02-10