Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Alpk3'

418812

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: 0.322) question?

Stock #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 81095056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000107348

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,384,779	T384A	probably benign	Het
Alyref	G	A	11: 120,597,765	P79L	possibly damaging	Het
Arhgap28	T	C	17: 67,896,236	D74G	probably damaging	Het
Arhgap8	G	T	15: 84,766,307		probably benign	Het
Atp1a4	T	A	1: 172,231,151	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,407,931	D586E	probably damaging	Het
Chd3	G	T	11: 69,361,196	Y79*	probably null	Het
Cnot3	C	A	7: 3,656,156	S467*	probably null	Het
Col18a1	A	T	10: 77,067,623		probably benign	Het
Col19a1	C	A	1: 24,328,053	G483C	probably damaging	Het
Col5a3	A	C	9: 20,804,635		probably null	Het
Dctn5	A	T	7: 122,133,159	N9I	probably benign	Het
Emc10	T	A	7: 44,491,989	N225I	probably damaging	Het
Fam213b	T	C	4: 154,896,601		probably benign	Het
Fam219b	A	G	9: 57,540,698	Y158C	probably damaging	Het
Fras1	T	C	5: 96,726,535	V2273A	probably benign	Het
Frem3	T	A	8: 80,613,032	H651Q	possibly damaging	Het
Gm13023	T	C	4: 143,793,546	V120A	possibly damaging	Het
Gm4076	T	A	13: 85,127,319		noncoding transcript	Het
Gpr35	A	T	1: 92,982,577	T4S	probably benign	Het
Ifnab	T	G	4: 88,690,825	T135P	possibly damaging	Het
Jag1	T	C	2: 137,084,688	I979V	probably benign	Het
Kank1	G	T	19: 25,425,918	M1097I	probably damaging	Het
Kcnq3	A	G	15: 66,028,788	V206A	probably damaging	Het
Kel	T	C	6: 41,702,983	K91R	probably benign	Het
Kirrel	G	T	3: 87,083,500	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,855,543	M143T	probably benign	Het
Kpna1	A	G	16: 36,012,919	I122V	probably damaging	Het
Lrpap1	A	G	5: 35,093,350	S353P	probably damaging	Het
Mtfr1l	T	A	4: 134,532,232	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,863,069	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746	D174N	probably benign	Het
Nup155	A	T	15: 8,147,284	E1015D	probably benign	Het
Olfr1338	C	A	4: 118,753,934	L201F	probably benign	Het
Olfr1499	T	C	19: 13,815,371	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,663,605	F188L	possibly damaging	Het
Pacrg	A	G	17: 10,839,832	F13L	probably benign	Het
Palb2	A	T	7: 122,124,499	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,281,039		probably null	Het
Pfkm	A	T	15: 98,126,385	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,252,467	R1282*	probably null	Het
Pole	C	T	5: 110,297,073	L432F	probably damaging	Het
Psat1	A	G	19: 15,906,123	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,478,968	R51K	probably benign	Het
Qars	A	G	9: 108,508,919	D103G	probably benign	Het
Rims2	A	T	15: 39,459,593	I768F	possibly damaging	Het
Robo4	T	A	9: 37,404,185	V275E	probably damaging	Het
Ryr2	A	G	13: 11,635,582		probably benign	Het
Sez6l	T	C	5: 112,475,403	H94R	probably benign	Het
Slco1c1	T	A	6: 141,544,827	N211K	possibly damaging	Het
Strbp	T	C	2: 37,586,503		probably benign	Het
Tceanc2	T	A	4: 107,147,681	H90L	probably damaging	Het
Tdrkh	A	T	3: 94,424,537	T90S	possibly damaging	Het
Tiam2	A	G	17: 3,509,548	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,065,549	V141M	probably benign	Het
Tpp2	T	A	1: 43,956,489	V268E	probably damaging	Het
Tprkb	T	A	6: 85,924,418	C13S	probably benign	Het
Traf3ip3	T	C	1: 193,195,077	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,301	M504K	probably benign	Het
Ttn	G	T	2: 76,767,223	S18036*	probably null	Het
Wdfy4	A	T	14: 32,966,435	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,049,258		probably benign	Het
Zfp644	T	C	5: 106,637,268	H471R	probably damaging	Het
Zfyve16	C	T	13: 92,511,817	E910K	possibly 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
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
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

2016-08-02