Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Ankk1'

575929

Institutional Source

Beutler Lab

Gene Symbol

Ankk1

Ensembl Gene

ENSMUSG00000032257

Gene Name

ankyrin repeat and kinase domain containing 1

Synonyms

9930020N01Rik

MMRRC Submission

045502-MU

Accession Numbers

Essential gene?

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

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49415194-49427021 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49418750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 302 (S302P)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

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

AlphaFold

Q8BZ25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034792
AA Change: S302P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: S302P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,545	R71C	probably damaging	Het
Aanat	A	T	11: 116,595,629		probably benign	Het
Ahrr	G	T	13: 74,257,545	S91*	probably null	Het
Ampd1	A	T	3: 103,088,442	N223Y	probably benign	Het
Ankar	T	G	1: 72,680,058	N544T	probably damaging	Het
Bcr	T	C	10: 75,157,100	V809A	probably benign	Het
Bpifb2	A	G	2: 153,890,540	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,184,009		probably null	Het
Ddx5	A	T	11: 106,782,180	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244	I239F	probably benign	Het
Ethe1	C	T	7: 24,606,251	T141I	probably damaging	Het
Fam160b2	T	C	14: 70,594,007	H29R	probably damaging	Het
Gdap2	A	T	3: 100,202,066	I36F	unknown	Het
Gm13030	A	T	4: 138,871,266	D115E	unknown	Het
Gm13103	C	T	4: 143,853,209	P455S	probably benign	Het
Gm17019	A	T	5: 15,029,372	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,435,777	E2517D	possibly damaging	Het
Gramd2	T	A	9: 59,708,071	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,630,266	W3836*	probably null	Het
Hspa14	C	T	2: 3,489,041	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,573,198	N46S	probably benign	Het
Ifna6	A	T	4: 88,827,807	E131V	possibly damaging	Het
Ift140	T	C	17: 25,037,036	V504A	possibly damaging	Het
Irgc1	T	C	7: 24,432,228	N388S	probably damaging	Het
Itgal	T	A	7: 127,317,365	V743E	probably benign	Het
Itih5	T	C	2: 10,245,637	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,266,503	K78N	possibly damaging	Het
Kif1a	A	T	1: 93,054,317	V787E	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt39	A	T	11: 99,518,091	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,869,743	F720S	possibly damaging	Het
Map2	G	A	1: 66,414,824	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,724,097	S906P	probably benign	Het
Mdc1	T	C	17: 35,853,309	S1250P	probably benign	Het
Meltf	G	A	16: 31,884,946	V164I	probably damaging	Het
Mtap	T	G	4: 89,179,462		probably null	Het
Mtus1	C	A	8: 41,022,406	V184F	probably damaging	Het
Myh1	A	T	11: 67,213,663	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,944,938		probably null	Het
Nkd1	G	T	8: 88,585,175	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,500,753	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,381,391		probably null	Het
Nucb1	T	C	7: 45,498,778	K204E	possibly damaging	Het
Nwd1	T	G	8: 72,675,173	M774R	possibly damaging	Het
Olfr165	A	T	16: 19,407,194	V274E	probably damaging	Het
Olfr262	A	T	19: 12,240,954	S236T	possibly damaging	Het
Olfr654	G	C	7: 104,588,700	E299Q	probably damaging	Het
Pan3	T	A	5: 147,536,272		probably null	Het
Pcdh15	A	T	10: 74,506,485	T1135S	probably benign	Het
Pfas	A	G	11: 69,000,092	I331T	probably damaging	Het
Plxna2	T	A	1: 194,806,339	I1641N	probably damaging	Het
Ptar1	A	T	19: 23,718,101	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,479,194	M1912R	probably damaging	Het
Rbm12	A	G	2: 156,097,303	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,322,043	D96G	probably benign	Het
Serpinb6b	T	A	13: 32,968,667	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,517,164	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,260,876	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St8sia2	T	A	7: 73,960,902	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,734,897	I96T	possibly damaging	Het
Tab2	G	T	10: 7,907,483	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 52,038,216	E14G	probably benign	Het
Trip11	A	T	12: 101,885,198	L869H	probably damaging	Het
Tslp	T	C	18: 32,819,080	Y133H	not run	Het
Ttn	A	G	2: 76,932,143	V3374A	unknown	Het
Ttn	T	C	2: 76,740,990	I26520V	probably damaging	Het
Tubgcp2	T	A	7: 140,007,924	I263F	possibly damaging	Het
Uaca	A	G	9: 60,870,110	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235	T1021I	unknown	Het
Ush1c	T	A	7: 46,225,555	I131F	probably benign	Het
Usp24	C	A	4: 106,379,107	D997E	probably benign	Het
Usp54	T	C	14: 20,577,040	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,499,080	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,329	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,563,868	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,418,980	P612T	probably damaging	Het
Vps13d	A	T	4: 145,148,747	V1736D		Het
Zbtb11	A	T	16: 55,990,487	H336L	probably benign	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
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
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'- CACCCTGAGCAATCAAGTGG -3'
(R):5'- CAATGTCATTGTGGGCAAATGG -3'

Sequencing Primer
(F):5'- GTATATTCACTCTCAGGCTATCGAG -3'
(R):5'- TCATTGTGGGCAAATGGAAACGTAC -3'

Posted On

2019-10-07