Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02340:Alpk3'

289040

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 #

IGL02340

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81078507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 462 (T462A)

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: T462A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: T462A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	A	7: 27,629,399	I182N	probably damaging	Het
Amz1	A	G	5: 140,752,259	R425G	probably damaging	Het
Aoc2	A	G	11: 101,326,375	E428G	probably damaging	Het
Car4	C	T	11: 84,965,767	P294S	probably damaging	Het
Chchd6	A	T	6: 89,419,780	H216Q	probably damaging	Het
Chl1	A	G	6: 103,698,125	Y591C	probably damaging	Het
Cln8	T	C	8: 14,895,178	L164S	probably damaging	Het
Dscaml1	T	C	9: 45,670,176	I431T	possibly damaging	Het
Fam234b	T	C	6: 135,231,661	L524P	probably damaging	Het
Fmo1	T	C	1: 162,832,990	N410S	probably benign	Het
Ftsj3	G	A	11: 106,253,146	R251*	probably null	Het
Greb1l	A	T	18: 10,515,200	D555V	probably damaging	Het
Hcar1	G	T	5: 123,879,072	H185Q	probably damaging	Het
Kcnj12	G	A	11: 61,069,493	V206I	probably benign	Het
Lamc3	G	A	2: 31,918,457	G742S	probably damaging	Het
Lipg	T	C	18: 74,960,875		probably null	Het
Ltbp2	A	G	12: 84,792,955		probably null	Het
Mcm3ap	T	G	10: 76,496,552	Y1234*	probably null	Het
Myh6	T	A	14: 54,957,155	D719V	possibly damaging	Het
Myo9b	A	G	8: 71,291,045	N250S	probably damaging	Het
Notch2	G	A	3: 98,147,336	W2438*	probably null	Het
Nphp1	G	A	2: 127,780,067	Q47*	probably null	Het
Nptx2	T	C	5: 144,556,246	L381P	probably damaging	Het
Nrxn3	A	G	12: 90,204,628	N911S	possibly damaging	Het
Olfr1176	T	C	2: 88,339,562		probably benign	Het
Olfr418	A	T	1: 173,270,405	I77F	probably benign	Het
P4ha1	T	A	10: 59,352,201	F260Y	probably benign	Het
Pitpnm2	T	C	5: 124,130,613	D504G	probably damaging	Het
Prss54	A	G	8: 95,565,609	V114A	probably benign	Het
Ptprc	G	A	1: 138,071,219	T1031M	probably damaging	Het
Rtf2	T	C	2: 172,468,591		probably benign	Het
Ryr3	A	G	2: 112,947,004		probably benign	Het
Slc14a2	C	T	18: 78,163,126	E492K	probably damaging	Het
Slc9a3r1	A	G	11: 115,180,032	E270G	probably benign	Het
Stab1	G	T	14: 31,140,410	N2322K	probably damaging	Het
Thsd7b	A	G	1: 130,159,632	N1162S	probably benign	Het
Tmprss11b	T	C	5: 86,662,231	I297V	probably benign	Het
Tnn	T	C	1: 160,145,205	N276D	probably benign	Het
Trhde	A	T	10: 114,592,213		probably benign	Het
Vmn1r115	T	A	7: 20,844,528	H153L	possibly damaging	Het
Vmn1r203	T	A	13: 22,524,827	C259*	probably null	Het
Xpot	T	A	10: 121,615,204	E97V	probably damaging	Het
Zbtb2	T	C	10: 4,368,712	D438G	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
IGL02517:Alpk3	APN	7	81077895	missense	probably benign	0.00
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