Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01732:Alpk3'

105555

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 #

IGL01732

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81057642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 5 (R5G)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000107348
AA Change: R5G

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: R5G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148597

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	G	T	4: 139,642,160	E341*	probably null	Het
Arhgef10l	C	T	4: 140,580,415	V113M	probably damaging	Het
Brca2	T	A	5: 150,542,387	I1872K	probably benign	Het
Cdk17	C	A	10: 93,218,045	P134T	probably benign	Het
Cerk	A	G	15: 86,146,316	S35P	possibly damaging	Het
Cfap126	T	C	1: 171,126,736	V174A	possibly damaging	Het
Cfhr1	T	C	1: 139,550,868	T255A	probably benign	Het
Clcn1	A	G	6: 42,310,672		probably benign	Het
Copz1	A	G	15: 103,297,891	E151G	probably benign	Het
Cubn	G	A	2: 13,489,936	Q101*	probably null	Het
Eri1	T	C	8: 35,491,243	E12G	possibly damaging	Het
Fam71f2	A	T	6: 29,285,980	H146L	probably damaging	Het
Fut9	A	G	4: 25,619,867	F316L	possibly damaging	Het
Gm973	A	G	1: 59,630,237	I816V	probably benign	Het
Itln1	A	G	1: 171,534,780	M11T	probably benign	Het
Klc2	C	T	19: 5,109,797	R458Q	probably damaging	Het
Lrrc8b	A	T	5: 105,485,960	E766V	probably damaging	Het
Mmadhc	A	T	2: 50,281,185	I205N	probably damaging	Het
Myo10	A	G	15: 25,732,063	I342V	probably benign	Het
Ncapg	T	A	5: 45,693,853	V796D	probably damaging	Het
Olfm3	A	C	3: 115,097,000	D134A	possibly damaging	Het
Olfr402	T	C	11: 74,155,453	C100R	probably damaging	Het
Olfr574	T	A	7: 102,949,239	I248N	probably damaging	Het
Olfr661	T	C	7: 104,688,336	M107T	possibly damaging	Het
Phldb3	A	G	7: 24,627,326	E593G	probably damaging	Het
Plcg1	T	A	2: 160,747,779	D74E	probably damaging	Het
Plekhm3	T	C	1: 64,922,248	D283G	probably benign	Het
Pnpla6	C	A	8: 3,522,616	T279N	probably damaging	Het
Prkcq	G	A	2: 11,260,833		probably benign	Het
Rbm11	G	A	16: 75,600,622	A147T	probably benign	Het
Rnf103	A	G	6: 71,510,382	K666E	probably damaging	Het
Selenos	A	G	7: 66,080,389	Y45C	probably damaging	Het
Sept11	A	G	5: 93,161,226	Y255C	probably damaging	Het
Serpinb3c	T	C	1: 107,271,972	H273R	probably benign	Het
Slc35f2	A	G	9: 53,806,625	D141G	probably damaging	Het
Sntg2	A	T	12: 30,312,649	Y33N	probably damaging	Het
Snx19	C	A	9: 30,462,353	T904K	probably damaging	Het
Tenm4	A	G	7: 96,895,509	Y2244C	probably damaging	Het
Tescl	A	G	7: 24,333,447	V151A	probably damaging	Het
Tnrc18	C	T	5: 142,772,061	V902M	unknown	Het
Trmt13	A	G	3: 116,581,464	L465S	probably damaging	Het
Ube2j2	T	G	4: 155,957,331	V249G	probably damaging	Het
Zan	T	C	5: 137,393,011	K4737R	unknown	Het
Zc3h6	T	C	2: 129,011,875	I430T	probably damaging	Het
Zfp750	G	A	11: 121,512,993	S352L	probably benign	Het
Zfp819	A	G	7: 43,616,422	K34E	probably benign	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
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
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

2014-01-21