Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02755:Alpk3'

306395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

IGL02755

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81093759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1108 (E1108G)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107348
AA Change: E1108G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: E1108G

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: ENSMUST00000151115

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	A	11: 11,589,358	N189I	unknown	Het
Adamts19	T	A	18: 58,969,933	I682K	probably benign	Het
Adra1a	G	A	14: 66,727,661	V367I	probably benign	Het
Ccdc186	A	T	19: 56,813,396	N96K	probably benign	Het
Ccnb1	A	G	13: 100,781,660	Y160H	possibly damaging	Het
Cebpz	A	T	17: 78,931,330	V683E	probably damaging	Het
Cep104	A	G	4: 153,996,959	H786R	possibly damaging	Het
Chd9	T	C	8: 91,033,582	I1985T	probably benign	Het
Cntn2	T	A	1: 132,529,302	T36S	probably benign	Het
Cntnap5c	T	C	17: 58,364,194	S1126P	probably benign	Het
Cpt2	A	T	4: 107,907,775	V264E	probably damaging	Het
Degs2	T	C	12: 108,692,583	T46A	probably benign	Het
Dip2c	T	C	13: 9,550,320		probably null	Het
Dnaaf1	A	G	8: 119,590,671	D313G	probably damaging	Het
Ephb3	T	G	16: 21,221,698	D561E	probably damaging	Het
Eps15	A	G	4: 109,329,698	T321A	probably benign	Het
Ercc6	A	G	14: 32,575,748		probably benign	Het
Gcn1l1	T	A	5: 115,604,006		probably null	Het
Gm28177	G	A	1: 52,096,872		probably benign	Het
Gucy2g	C	A	19: 55,210,354	V786F	probably benign	Het
H2-M3	T	C	17: 37,271,022	V123A	possibly damaging	Het
Hmgxb3	T	C	18: 61,172,188	K33E	probably damaging	Het
Ift22	T	C	5: 136,911,786	W102R	probably damaging	Het
Lgi4	T	C	7: 31,063,105	F44L	probably damaging	Het
Lingo3	T	C	10: 80,836,009	E29G	possibly damaging	Het
Nf2	A	G	11: 4,818,542	L109P	probably damaging	Het
Ntrk3	T	C	7: 78,460,439	H349R	probably benign	Het
Olfr767	T	A	10: 129,079,196	M256L	probably benign	Het
Otub1	T	A	19: 7,206,259	M1L	probably benign	Het
Pkp3	A	G	7: 141,088,405		probably null	Het
Popdc3	C	A	10: 45,315,218	H142N	probably damaging	Het
Pot1a	A	G	6: 25,771,613	F203S	possibly damaging	Het
Prdx5	A	G	19: 6,909,595	V8A	probably benign	Het
Rabgap1	T	C	2: 37,537,314	Y636H	probably damaging	Het
Rad51d	A	T	11: 82,881,632	I236N	probably benign	Het
Reep3	G	T	10: 67,021,877	T145K	possibly damaging	Het
Samd3	G	T	10: 26,244,577	L156F	probably damaging	Het
Sh3bp5l	A	G	11: 58,338,003	T101A	probably benign	Het
Slc3a1	T	C	17: 85,037,177	V257A	probably damaging	Het
Sptbn1	A	G	11: 30,142,247	V506A	probably damaging	Het
Stab1	A	T	14: 31,139,638	S2471T	probably benign	Het
Vmn2r85	T	C	10: 130,425,512	T319A	probably damaging	Het
Vmn2r94	C	T	17: 18,244,499	V510I	probably benign	Het
Wscd2	T	A	5: 113,574,031	M337K	possibly damaging	Het
Zfp866	A	G	8: 69,766,640		probably null	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
IGL02517:Alpk3	APN	7	81077895	missense	probably benign	0.00
IGL02725:Alpk3	APN	7	81093610	missense	possibly damaging	0.91
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
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