Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:Ankk1'

259801

Institutional Source

Beutler Lab

Gene Symbol

Ankk1

Ensembl Gene

ENSMUSG00000032257

Gene Name

ankyrin repeat and kinase domain containing 1

Synonyms

9930020N01Rik

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

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

Stock #

R3714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49415194-49427021 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49421713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 157 (D157A)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

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

AlphaFold

Q8BZ25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034792
AA Change: D157A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: D157A

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,947,976	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adck5	G	A	15: 76,593,938	V229I	probably damaging	Het
AF366264	T	G	8: 13,836,736	I452L	probably benign	Het
Atp1a2	A	G	1: 172,278,984	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,840,259	S260G	probably benign	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Cntnap5c	C	T	17: 57,892,067	Q119*	probably null	Het
Cpb2	T	A	14: 75,283,217		probably null	Het
Ddx47	T	A	6: 135,019,062	I329K	probably damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Fam92b	C	T	8: 120,174,837	R43H	probably damaging	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fuk	G	T	8: 110,887,259	D723E	probably damaging	Het
Garem1	T	A	18: 21,148,890	E136D	probably damaging	Het
Haus6	A	G	4: 86,602,867	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,698,496	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,231	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,404,460	H146Y	probably damaging	Het
Lipk	A	G	19: 34,040,429	N289S	probably damaging	Het
Mb	A	G	15: 77,017,589	V102A	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,252,421	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,714,881	V337A	probably benign	Het
Npm2	T	C	14: 70,652,620		probably null	Het
Olfr1240	G	A	2: 89,439,383	L299F	probably damaging	Het
Olfr479	T	C	7: 108,055,435	F151S	probably damaging	Het
Olfr92	A	G	17: 37,111,335	Y216H	probably damaging	Het
Prdm9	T	A	17: 15,557,361	K154*	probably null	Het
Prkch	C	T	12: 73,775,516	P630S	probably damaging	Het
Ptprn	T	C	1: 75,252,767		probably null	Het
Rnf31	T	A	14: 55,603,394	D884E	probably damaging	Het
Slc22a27	A	T	19: 7,926,450	N107K	possibly damaging	Het
Spata5	G	A	3: 37,433,209	V407I	probably benign	Het
Tln1	G	T	4: 43,540,597	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,527,051	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,505,316		probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,706,268	D18G	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
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
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
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'- GACATCACAGCTCCTGTCTC -3'
(R):5'- TATGGGGTCTGTAAGCAGCC -3'

Sequencing Primer
(F):5'- AAAGTTGTCTACTCATCCATCTCTG -3'
(R):5'- TCTGTAAGCAGCCCCTGG -3'

Posted On

2015-01-23