Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Ankk1'

1315

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

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

49326494-49338321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49333200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 95 (I95L)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

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

AlphaFold

Q8BZ25

Predicted Effect

probably benign
Transcript: ENSMUST00000034792
AA Change: I95L

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: I95L

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,854 (GRCm39)	S580P	probably damaging	Het
Abca12	T	A	1: 71,342,700 (GRCm39)	I927F	possibly damaging	Het
Abca8a	A	G	11: 109,941,765 (GRCm39)	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,278,847 (GRCm39)	N1052K	probably benign	Het
Adamts13	C	A	2: 26,895,373 (GRCm39)	Q1155K	probably benign	Het
Adgre4	A	T	17: 56,098,915 (GRCm39)		probably benign	Het
Ahsa2	T	C	11: 23,446,837 (GRCm39)	E42G	probably damaging	Het
Anpep	A	T	7: 79,491,734 (GRCm39)	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,306,083 (GRCm39)	N83S	probably benign	Het
Atp11b	A	G	3: 35,863,525 (GRCm39)		probably null	Het
Atp6v0a2	T	C	5: 124,798,841 (GRCm39)	F849L	probably benign	Het
BC106179	A	G	16: 23,043,022 (GRCm39)		probably benign	Het
Bcl2a1c	T	C	9: 114,159,608 (GRCm39)	*129Q	probably null	Het
C2cd5	T	C	6: 142,963,671 (GRCm39)	I888V	probably null	Het
Calb2	A	T	8: 110,872,303 (GRCm39)	L227Q	probably damaging	Het
Ccp110	G	T	7: 118,321,647 (GRCm39)	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,990,339 (GRCm39)	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,935,758 (GRCm39)		probably null	Het
Col6a6	T	A	9: 105,635,390 (GRCm39)		probably null	Het
Cyld	T	A	8: 89,432,085 (GRCm39)	C28S	probably benign	Het
Dapk1	A	T	13: 60,908,854 (GRCm39)	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,133,454 (GRCm39)	Y16*	probably null	Het
Dennd3	T	G	15: 73,438,982 (GRCm39)	S1117A	probably benign	Het
Dgka	A	T	10: 128,568,955 (GRCm39)	D203E	probably damaging	Het
Dhx15	G	T	5: 52,324,117 (GRCm39)	L392I	probably damaging	Het
Dnah10	A	G	5: 124,823,680 (GRCm39)	D567G	probably benign	Het
Eaf1	T	A	14: 31,226,483 (GRCm39)		probably null	Het
Efnb2	T	C	8: 8,710,589 (GRCm39)	D9G	probably benign	Het
Fcrla	A	T	1: 170,755,067 (GRCm39)	C15S	probably benign	Het
Flt3	T	C	5: 147,291,686 (GRCm39)	N588S	probably damaging	Het
Garre1	A	T	7: 33,945,412 (GRCm39)		probably benign	Het
Gm10146	A	T	10: 78,229,307 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,653 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,741,274 (GRCm39)		probably benign	Het
Gpr39	A	C	1: 125,800,468 (GRCm39)	R406S	probably benign	Het
H2-Aa	T	C	17: 34,503,504 (GRCm39)	H31R	probably damaging	Het
Helz2	G	T	2: 180,871,495 (GRCm39)	R2706S	probably damaging	Het
Hip1r	T	A	5: 124,127,798 (GRCm39)		probably null	Het
Hnf4g	A	G	3: 3,713,142 (GRCm39)	T239A	probably benign	Het
Hps5	A	T	7: 46,425,362 (GRCm39)	I413N	probably damaging	Het
Hspg2	G	A	4: 137,256,131 (GRCm39)	G1413R	probably damaging	Het
Itgax	T	G	7: 127,734,498 (GRCm39)	M352R	probably damaging	Het
Katna1	T	A	10: 7,638,568 (GRCm39)	M433K	probably damaging	Het
Kcna4	T	G	2: 107,126,207 (GRCm39)	S314A	probably damaging	Het
Kif13b	C	T	14: 64,907,142 (GRCm39)	T42I	possibly damaging	Het
Krt78	G	A	15: 101,855,945 (GRCm39)	T622I	probably benign	Het
Krt86	T	A	15: 101,374,396 (GRCm39)	M263K	possibly damaging	Het
Lap3	A	G	5: 45,663,511 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,672,232 (GRCm39)	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,306,769 (GRCm39)	I314V	probably benign	Het
Luc7l2	T	C	6: 38,585,105 (GRCm39)		probably benign	Het
Mcm2	T	A	6: 88,870,383 (GRCm39)	M117L	probably benign	Het
Mdh2	T	C	5: 135,815,138 (GRCm39)	Y133H	probably damaging	Het
Minar1	C	T	9: 89,483,853 (GRCm39)	V515I	probably benign	Het
Mlkl	T	A	8: 112,046,060 (GRCm39)	R317*	probably null	Het
Mrps34	T	C	17: 25,114,344 (GRCm39)	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo18a	A	G	11: 77,738,764 (GRCm39)	E1299G	probably damaging	Het
Nlrp14	T	C	7: 106,791,709 (GRCm39)	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,627,413 (GRCm39)	D86G	probably damaging	Het
Or10u4	T	A	10: 129,801,673 (GRCm39)	R293W	probably damaging	Het
Or4c107	T	A	2: 88,789,110 (GRCm39)	I100N	probably damaging	Het
Or4f62	A	T	2: 111,986,412 (GRCm39)	M39L	probably benign	Het
Patj	T	C	4: 98,353,343 (GRCm39)	F629L	probably damaging	Het
Rad23a	A	G	8: 85,562,524 (GRCm39)	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,769,558 (GRCm39)	G811V	probably damaging	Het
St18	A	G	1: 6,872,796 (GRCm39)	D177G	probably benign	Het
Sult1c2	A	C	17: 54,140,147 (GRCm39)	Y159*	probably null	Het
Surf6	T	A	2: 26,783,081 (GRCm39)		probably null	Het
Susd6	T	G	12: 80,916,841 (GRCm39)		probably benign	Het
Sypl2	G	A	3: 108,133,742 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,984,280 (GRCm39)	F2289Y	probably damaging	Het
Vcl	T	C	14: 21,037,071 (GRCm39)	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,449,860 (GRCm39)	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,513,854 (GRCm39)	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,404,424 (GRCm39)	N192K	probably damaging	Het
Wrnip1	A	G	13: 33,000,312 (GRCm39)	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,156,159 (GRCm39)	Y264H	unknown	Het
Zfp639	T	G	3: 32,573,902 (GRCm39)		probably null	Het
Zfp831	T	C	2: 174,488,078 (GRCm39)	Y918H	possibly damaging	Het

Other mutations in Ankk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Ankk1	APN	9	49,327,143 (GRCm39)	missense	probably benign	0.00
IGL01316:Ankk1	APN	9	49,331,784 (GRCm39)	unclassified	probably benign
IGL01359:Ankk1	APN	9	49,327,328 (GRCm39)	missense	possibly damaging	0.95
IGL01464:Ankk1	APN	9	49,327,272 (GRCm39)	missense	probably benign	0.26
IGL01719:Ankk1	APN	9	49,328,081 (GRCm39)	missense	probably benign	0.08
IGL02057:Ankk1	APN	9	49,328,072 (GRCm39)	missense	probably damaging	1.00
IGL02549:Ankk1	APN	9	49,329,993 (GRCm39)	missense	probably damaging	1.00
IGL02690:Ankk1	APN	9	49,333,200 (GRCm39)	missense	probably damaging	0.99
IGL03083:Ankk1	APN	9	49,333,166 (GRCm39)	missense	probably benign	0.15
IGL03168:Ankk1	APN	9	49,327,068 (GRCm39)	missense	possibly damaging	0.89
IGL03289:Ankk1	APN	9	49,326,995 (GRCm39)	missense	probably benign	0.00
R0319:Ankk1	UTSW	9	49,327,371 (GRCm39)	missense	probably damaging	0.97
R0539:Ankk1	UTSW	9	49,329,330 (GRCm39)	missense	probably benign
R0827:Ankk1	UTSW	9	49,333,037 (GRCm39)	missense	possibly damaging	0.81
R1474:Ankk1	UTSW	9	49,327,139 (GRCm39)	missense	probably damaging	1.00
R1818:Ankk1	UTSW	9	49,331,725 (GRCm39)	missense	probably benign	0.06
R1851:Ankk1	UTSW	9	49,327,150 (GRCm39)	missense	probably benign
R2044:Ankk1	UTSW	9	49,330,664 (GRCm39)	critical splice donor site	probably null
R2088:Ankk1	UTSW	9	49,333,265 (GRCm39)	unclassified	probably benign
R2353:Ankk1	UTSW	9	49,329,990 (GRCm39)	missense	probably benign
R2897:Ankk1	UTSW	9	49,333,122 (GRCm39)	missense	probably benign	0.00
R2898:Ankk1	UTSW	9	49,333,122 (GRCm39)	missense	probably benign	0.00
R3121:Ankk1	UTSW	9	49,338,267 (GRCm39)	missense	probably benign	0.21
R3714:Ankk1	UTSW	9	49,333,013 (GRCm39)	missense	possibly damaging	0.92
R4455:Ankk1	UTSW	9	49,329,366 (GRCm39)	missense	probably benign	0.00
R4757:Ankk1	UTSW	9	49,327,230 (GRCm39)	missense	probably benign
R4893:Ankk1	UTSW	9	49,326,983 (GRCm39)	missense	probably benign	0.00
R5090:Ankk1	UTSW	9	49,333,063 (GRCm39)	missense	probably damaging	0.98
R5521:Ankk1	UTSW	9	49,331,748 (GRCm39)	missense	probably benign	0.05
R5812:Ankk1	UTSW	9	49,338,153 (GRCm39)	missense	probably benign	0.00
R5853:Ankk1	UTSW	9	49,329,995 (GRCm39)	missense	possibly damaging	0.58
R5873:Ankk1	UTSW	9	49,327,196 (GRCm39)	missense	probably benign	0.19
R6119:Ankk1	UTSW	9	49,338,183 (GRCm39)	missense	possibly damaging	0.88
R6328:Ankk1	UTSW	9	49,327,371 (GRCm39)	missense	possibly damaging	0.84
R6606:Ankk1	UTSW	9	49,327,646 (GRCm39)	missense	probably benign	0.29
R6689:Ankk1	UTSW	9	49,331,776 (GRCm39)	missense	probably damaging	1.00
R6745:Ankk1	UTSW	9	49,327,480 (GRCm39)	missense	probably benign	0.00
R6856:Ankk1	UTSW	9	49,331,320 (GRCm39)	missense	probably benign	0.39
R7424:Ankk1	UTSW	9	49,330,050 (GRCm39)	missense	possibly damaging	0.93
R8145:Ankk1	UTSW	9	49,327,097 (GRCm39)	missense	possibly damaging	0.63
R8683:Ankk1	UTSW	9	49,329,292 (GRCm39)	missense
R9776:Ankk1	UTSW	9	49,330,714 (GRCm39)	missense	probably benign	0.25
Z1176:Ankk1	UTSW	9	49,333,211 (GRCm39)	missense	probably damaging	1.00
Z1176:Ankk1	UTSW	9	49,327,943 (GRCm39)	missense	probably benign	0.01
Z1177:Ankk1	UTSW	9	49,327,787 (GRCm39)	missense	probably damaging	0.97
Z1177:Ankk1	UTSW	9	49,327,244 (GRCm39)	missense	probably damaging	0.99

Posted On

2011-07-12