Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Alpk3'

296844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81077895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 258 (S258P)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107348]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107348
AA Change: S258P

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

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: S258P

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
IGc2	89	159	2.78e-11	SMART
low complexity region	183	192	N/A	INTRINSIC
low complexity region	400	427	N/A	INTRINSIC
low complexity region	514	532	N/A	INTRINSIC
low complexity region	586	598	N/A	INTRINSIC
low complexity region	958	971	N/A	INTRINSIC
low complexity region	1048	1058	N/A	INTRINSIC
low complexity region	1076	1087	N/A	INTRINSIC
IG_like	1264	1330	5.73e-2	SMART
low complexity region	1350	1359	N/A	INTRINSIC
Alpha_kinase	1395	1592	1.17e-44	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,958,868	E1899G	probably damaging	Het
Acnat2	T	G	4: 49,380,647	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639	C228*	probably null	Het
Adam24	T	C	8: 40,680,179	S229P	probably damaging	Het
Atad2b	A	G	12: 5,018,037	T1012A	probably benign	Het
C4b	A	T	17: 34,734,408	S1034T	probably benign	Het
Cd300ld2	T	A	11: 115,010,423	H277L	possibly damaging	Het
Chrna4	C	T	2: 181,029,133	V277I	probably benign	Het
Col3a1	A	G	1: 45,325,803		probably null	Het
Dpep2	C	T	8: 105,988,756	V369M	probably damaging	Het
Eml2	T	A	7: 19,206,130	N815K	probably damaging	Het
Enpp3	A	G	10: 24,809,848		probably benign	Het
Git1	T	C	11: 77,499,587	V86A	probably benign	Het
Hivep2	C	T	10: 14,131,182	P1175S	probably benign	Het
Hydin	T	C	8: 110,566,972	I3517T	probably benign	Het
Ift172	T	A	5: 31,253,648		probably null	Het
Jmy	A	G	13: 93,452,808	I647T	probably benign	Het
Kifap3	T	A	1: 163,825,871		probably benign	Het
Lama3	G	A	18: 12,537,858		probably null	Het
Lipa	A	C	19: 34,494,122	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,785,317	A1631D	probably benign	Het
Masp2	A	G	4: 148,614,020	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,663,277		probably benign	Het
Numa1	T	G	7: 102,012,009	D1846E	probably benign	Het
Olfr12	A	T	1: 92,620,461	Y185F	probably benign	Het
Olfr1440	A	T	19: 12,394,901	I213F	probably benign	Het
Olfr745	A	G	14: 50,643,201	T301A	probably benign	Het
Olfr918	T	C	9: 38,672,913	Y177C	probably damaging	Het
Olfr968	T	G	9: 39,772,504	T99P	probably damaging	Het
Oog3	A	T	4: 144,159,350	I226K	probably damaging	Het
Pkdcc	T	C	17: 83,223,866	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,208,081	Y70H	probably damaging	Het
Prcc	C	T	3: 87,869,677	S330N	probably damaging	Het
Ror2	A	T	13: 53,118,840	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,792,398	L651P	probably damaging	Het
Skint6	A	T	4: 112,948,540		probably benign	Het
Slc23a4	A	G	6: 34,954,982	F186L	probably benign	Het
Slc30a8	A	T	15: 52,335,134	D325V	probably benign	Het
Son	C	T	16: 91,655,211	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,892	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,629,983	S447P	probably benign	Het
Thsd1	T	A	8: 22,243,438	V167E	probably damaging	Het
Tle3	T	C	9: 61,414,781	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,541,617	V202G	probably benign	Het
Trim6	T	C	7: 104,232,357		probably benign	Het
Trip12	A	G	1: 84,743,814		probably benign	Het
Ubr1	A	C	2: 120,864,373	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,915,998	R4600H	probably damaging	Het
Vil1	A	G	1: 74,426,692	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,163,096	I152L	probably benign	Het
Vmn1r26	A	G	6: 58,009,142	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,186	K368*	probably null	Het
Vmn2r68	C	T	7: 85,221,945	W710*	probably null	Het
Zfp808	T	A	13: 62,173,218	*754R	probably null	Het
Zyg11b	C	T	4: 108,266,318	E151K	probably damaging	Het

Other mutations in Alpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Alpk3	APN	7	81078009	missense	possibly damaging	0.95
IGL00472:Alpk3	APN	7	81095653	splice site	probably benign
IGL01732:Alpk3	APN	7	81057642	missense	unknown
IGL01750:Alpk3	APN	7	81092282	missense	probably damaging	1.00
IGL01812:Alpk3	APN	7	81100202	missense	probably damaging	1.00
IGL02224:Alpk3	APN	7	81076868	splice site	probably benign
IGL02292:Alpk3	APN	7	81077905	missense	possibly damaging	0.46
IGL02340:Alpk3	APN	7	81078507	missense	probably benign	0.03
IGL02725:Alpk3	APN	7	81093610	missense	possibly damaging	0.91
IGL02755:Alpk3	APN	7	81093759	missense	possibly damaging	0.71
IGL03035:Alpk3	APN	7	81078604	missense	probably benign	0.00
IGL03102:Alpk3	APN	7	81095056	critical splice donor site	probably null
IGL03153:Alpk3	APN	7	81093395	missense	probably benign	0.00
IGL03255:Alpk3	APN	7	81092562	missense	probably benign	0.01
IGL03367:Alpk3	APN	7	81094990	missense	probably benign	0.01
FR4304:Alpk3	UTSW	7	81077762	small insertion	probably benign
FR4737:Alpk3	UTSW	7	81077762	small insertion	probably benign
IGL03097:Alpk3	UTSW	7	81093909	missense	probably benign	0.00
R0092:Alpk3	UTSW	7	81092553	missense	probably benign
R0254:Alpk3	UTSW	7	81076974	missense	probably benign	0.43
R0310:Alpk3	UTSW	7	81078610	missense	possibly damaging	0.61
R0325:Alpk3	UTSW	7	81067953	missense	possibly damaging	0.58
R0387:Alpk3	UTSW	7	81104227	missense	possibly damaging	0.93
R0971:Alpk3	UTSW	7	81092579	missense	possibly damaging	0.55
R1078:Alpk3	UTSW	7	81078600	missense	probably benign
R1146:Alpk3	UTSW	7	81077595	missense	probably damaging	0.99
R1146:Alpk3	UTSW	7	81077595	missense	probably damaging	0.99
R1168:Alpk3	UTSW	7	81103357	missense	probably damaging	1.00
R1306:Alpk3	UTSW	7	81093873	missense	probably damaging	1.00
R1822:Alpk3	UTSW	7	81076931	nonsense	probably null
R2173:Alpk3	UTSW	7	81076900	missense	probably damaging	1.00
R2350:Alpk3	UTSW	7	81094970	missense	probably damaging	1.00
R2414:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R2417:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R2885:Alpk3	UTSW	7	81100192	missense	probably damaging	1.00
R3004:Alpk3	UTSW	7	81103355	nonsense	probably null
R3796:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R3797:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R3798:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R3799:Alpk3	UTSW	7	81092753	missense	probably benign	0.02
R3894:Alpk3	UTSW	7	81078390	missense	possibly damaging	0.93
R4395:Alpk3	UTSW	7	81094955	missense	probably damaging	1.00
R4761:Alpk3	UTSW	7	81104168	missense	probably damaging	0.99
R5505:Alpk3	UTSW	7	81078561	missense	possibly damaging	0.87
R5540:Alpk3	UTSW	7	81095436	missense	probably damaging	1.00
R5770:Alpk3	UTSW	7	81078562	missense	probably benign	0.02
R5941:Alpk3	UTSW	7	81078653	missense	probably damaging	1.00
R5964:Alpk3	UTSW	7	81092260	missense	possibly damaging	0.88
R6036:Alpk3	UTSW	7	81093257	missense	probably benign	0.34
R6036:Alpk3	UTSW	7	81093257	missense	probably benign	0.34
R6066:Alpk3	UTSW	7	81076950	missense	possibly damaging	0.89
R6517:Alpk3	UTSW	7	81078579	missense	possibly damaging	0.54
R6578:Alpk3	UTSW	7	81078684	missense	probably benign	0.00
R7230:Alpk3	UTSW	7	81093294	missense	probably damaging	1.00
R7266:Alpk3	UTSW	7	81092580	missense	possibly damaging	0.55
R7271:Alpk3	UTSW	7	81078454	missense	possibly damaging	0.92
R7402:Alpk3	UTSW	7	81076912	missense	probably benign	0.29
R7411:Alpk3	UTSW	7	81092852	missense	probably benign	0.11
R7454:Alpk3	UTSW	7	81078562	missense	probably benign	0.02
R7468:Alpk3	UTSW	7	81100998	nonsense	probably null
R7940:Alpk3	UTSW	7	81093945	missense	probably damaging	1.00
R8157:Alpk3	UTSW	7	81093722	missense	probably benign	0.00
R8246:Alpk3	UTSW	7	81092776	missense	probably benign	0.00
R8357:Alpk3	UTSW	7	81093318	missense	probably damaging	1.00
R8444:Alpk3	UTSW	7	81057720	missense	probably benign	0.08
R8457:Alpk3	UTSW	7	81093318	missense	probably damaging	1.00
R8775:Alpk3	UTSW	7	81077850	missense	probably benign	0.00
R8775-TAIL:Alpk3	UTSW	7	81077850	missense	probably benign	0.00
R8794:Alpk3	UTSW	7	81057655	missense	unknown
R8982:Alpk3	UTSW	7	81099002	missense	probably damaging	1.00
R9259:Alpk3	UTSW	7	81093554	missense	probably damaging	1.00
R9343:Alpk3	UTSW	7	81092331	missense	probably benign	0.27
R9567:Alpk3	UTSW	7	81092939	missense	possibly damaging	0.55
R9792:Alpk3	UTSW	7	81101133	critical splice donor site	probably null
R9793:Alpk3	UTSW	7	81101133	critical splice donor site	probably null
R9798:Alpk3	UTSW	7	81092652	missense	probably benign	0.02
RF034:Alpk3	UTSW	7	81092414	small deletion	probably benign
RF057:Alpk3	UTSW	7	81092417	frame shift	probably null
X0022:Alpk3	UTSW	7	81093897	missense	probably damaging	0.96
Z1176:Alpk3	UTSW	7	81078626	missense	probably benign	0.00

Posted On

2015-04-16