Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02725:Alpk3'

305178

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: 0.446) question?

Stock #

IGL02725

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81093610 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1058 (Q1058H)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107348
AA Change: Q1058H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Q1058H

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,474,909	I414T	possibly damaging	Het
Agpat3	A	C	10: 78,278,055	D266E	probably benign	Het
Atat1	A	T	17: 35,909,489	V37E	probably benign	Het
Bcl6b	A	G	11: 70,228,518	V124A	probably damaging	Het
Bmt2	T	C	6: 13,628,496	E396G	probably damaging	Het
Ccdc50	T	C	16: 27,436,597	C237R	probably benign	Het
Chd9	A	G	8: 91,051,684	I2790M	possibly damaging	Het
Chkb	A	G	15: 89,429,137	L82P	probably damaging	Het
Cit	T	C	5: 115,985,473	Y1458H	probably benign	Het
Clp1	T	A	2: 84,723,864	K320N	probably benign	Het
Cry2	T	C	2: 92,413,260		probably benign	Het
Cyp20a1	C	T	1: 60,366,706	R220W	probably benign	Het
Cyp27a1	C	T	1: 74,735,703	P268S	probably damaging	Het
Cyp2e1	T	G	7: 140,763,915	I22S	probably null	Het
Defb34	A	G	8: 19,123,758	T3A	unknown	Het
Dpy19l3	A	T	7: 35,711,918	M422K	probably benign	Het
Eif4g3	A	T	4: 138,170,471		probably benign	Het
Elmod3	A	G	6: 72,594,775	S7P	probably damaging	Het
Fam151a	T	G	4: 106,748,014	S524R	probably damaging	Het
Gcc1	A	T	6: 28,418,459	V625E	probably benign	Het
Glmn	G	A	5: 107,575,289	P112S	possibly damaging	Het
Grm5	A	C	7: 88,074,665	D721A	probably damaging	Het
Hivep3	T	C	4: 120,095,822	V445A	possibly damaging	Het
Hmcn1	T	A	1: 150,604,903	E4507D	possibly damaging	Het
Hmcn2	A	C	2: 31,405,528	E2583A	probably damaging	Het
Ifnb1	T	A	4: 88,522,630	I49F	probably benign	Het
Ints8	A	C	4: 11,239,406	C306W	probably benign	Het
Jakmip2	A	G	18: 43,562,590	S540P	probably damaging	Het
Kctd1	A	G	18: 14,969,610	V838A	possibly damaging	Het
Klk10	T	C	7: 43,781,620	L29P	probably damaging	Het
Lyst	T	A	13: 13,760,827	I3627K	probably damaging	Het
Maml3	A	G	3: 52,103,774	S124P	probably damaging	Het
Nav2	A	T	7: 49,565,095	K1632I	probably damaging	Het
Olfr324	T	C	11: 58,597,864	V156A	probably benign	Het
Pde2a	G	T	7: 101,507,218	M616I	probably null	Het
Pdia2	T	C	17: 26,196,532	D440G	probably benign	Het
Rab11fip5	A	G	6: 85,374,489	S14P	probably damaging	Het
Rhpn2	T	C	7: 35,379,606	S383P	probably damaging	Het
Rnf220	A	G	4: 117,272,379		probably benign	Het
Rnf43	A	G	11: 87,731,585	D504G	probably damaging	Het
Setbp1	A	T	18: 78,857,374	L1026*	probably null	Het
Slc1a4	A	T	11: 20,308,408	S264T	probably damaging	Het
Snx19	A	G	9: 30,432,260	N572S	possibly damaging	Het
Sptan1	T	C	2: 29,996,043	I739T	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stat5b	A	T	11: 100,805,014	D47E	possibly damaging	Het
Taar7b	A	T	10: 24,000,063	Y42F	probably benign	Het
Tfdp2	T	A	9: 96,287,695	I33K	possibly damaging	Het
Tm4sf5	A	G	11: 70,510,622	H149R	probably benign	Het
Tmco6	A	G	18: 36,738,707	M257V	probably benign	Het
Tuba8	G	T	6: 121,225,957	G410*	probably null	Het
Ubd	T	A	17: 37,193,962	V4D	probably benign	Het
Ugt2b34	C	T	5: 86,906,425	V166I	probably benign	Het
Vmn2r70	C	T	7: 85,565,345	V200I	possibly damaging	Het
Wdcp	A	T	12: 4,851,206	N354I	probably damaging	Het
Wipi2	A	T	5: 142,666,863	Y410F	possibly damaging	Het
Zc3hav1	G	T	6: 38,332,192	P565Q	probably damaging	Het
Zfp398	T	C	6: 47,865,803	V131A	probably benign	Het
Zkscan3	T	C	13: 21,394,893	D144G	possibly damaging	Het
Zpbp	T	A	11: 11,462,358		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
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
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
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