Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Alpk3'

721686

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81092939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 835 (S835P)

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: S835P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: S835P

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,466,257	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,428,947	P30Q	probably damaging	Het
Adam18	C	T	8: 24,628,194	V569I	probably benign	Het
Adnp2	A	T	18: 80,130,918	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,981,401	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,077,311	N3720D	possibly damaging	Het
Amer3	C	T	1: 34,588,755	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880	D342V	unknown	Het
Arap2	G	T	5: 62,604,498	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,892,142	I108L	possibly damaging	Het
BC005561	T	A	5: 104,521,778	S1389T	probably benign	Het
Cacna1h	T	C	17: 25,393,513	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,905,311	A1077E	probably benign	Het
Cacng6	T	C	7: 3,434,765	V203A	probably benign	Het
Clec1b	A	T	6: 129,405,238	D226V	possibly damaging	Het
Crb1	A	C	1: 139,243,470	S727R	probably benign	Het
Dars	T	C	1: 128,415,375	I35V		Het
Ddo	T	A	10: 40,647,917	V301D	probably damaging	Het
Diablo	C	A	5: 123,524,133		probably benign	Het
Dnhd1	C	A	7: 105,704,266	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,687,283	L282P		Het
Ebna1bp2	A	G	4: 118,620,993	Q21R	probably benign	Het
Exoc7	C	T	11: 116,304,898	V93I	probably benign	Het
Fam69a	T	A	5: 107,909,502	K397*	probably null	Het
Foxk1	T	A	5: 142,401,958	Y145*	probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fsip2	C	T	2: 82,967,829	T489M	probably benign	Het
Gbf1	C	T	19: 46,271,607	T1067I		Het
Ggta1	T	A	2: 35,423,321	T3S	possibly damaging	Het
Gm14124	A	T	2: 150,267,597	H69L	possibly damaging	Het
Guf1	T	A	5: 69,564,608	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,477,188	S81G	probably benign	Het
Igf2r	G	A	17: 12,686,754	T2230I	probably damaging	Het
Ighmbp2	A	T	19: 3,282,785	M1K	probably null	Het
Klhdc9	T	C	1: 171,360,346	T106A	probably benign	Het
Kti12	T	C	4: 108,848,738	M283T	possibly damaging	Het
Lrig3	C	T	10: 126,010,095	P798S	probably benign	Het
Lrp8	T	C	4: 107,854,272	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757	D178E	probably benign	Het
Magi1	A	C	6: 93,682,950		probably null	Het
Magi1	G	A	6: 93,678,450	A1405V	probably damaging	Het
Mdga1	G	A	17: 29,857,595	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,839,498	S25G	probably benign	Het
Mgat1	C	A	11: 49,261,867	S392R	probably benign	Het
Mtmr2	C	T	9: 13,802,005	Q493*	probably null	Het
Myocd	A	T	11: 65,187,584	S462T	probably damaging	Het
Ndnf	A	G	6: 65,704,180	Y481C	probably damaging	Het
Neb	G	T	2: 52,175,126	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,060,625	M11V	probably benign	Het
Nup93	T	C	8: 94,308,976	S658P	possibly damaging	Het
Obox2	T	A	7: 15,396,846	M1K	probably null	Het
Olfr1117-ps1	T	A	2: 87,284,693	Y134*	probably null	Het
Olfr379-ps1	G	T	11: 73,433,963	H88N	unknown	Het
Olfr610	C	T	7: 103,506,520	R142H	probably benign	Het
Olfr979	T	A	9: 40,001,071	H52L	possibly damaging	Het
Pcdh18	T	A	3: 49,756,435	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,731,929	T259I	probably damaging	Het
Pclo	A	G	5: 14,713,422	T685A		Het
Pecam1	T	C	11: 106,697,295	T139A	possibly damaging	Het
Pi15	T	A	1: 17,624,954	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 109,667,541	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,439,126	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004	S961G	probably benign	Het
Rbm42	T	C	7: 30,645,970	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,236,342		probably benign	Het
Scn2a	C	T	2: 65,688,630	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,538,280	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,186,562	D577V	probably benign	Het
Stim2	A	G	5: 54,075,365	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,241,372	F359L	probably benign	Het
Syne1	T	C	10: 5,246,386	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,994,024	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,331,163	T199I	probably damaging	Het
Tiam1	T	A	16: 89,794,765	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,941,313	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,284	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,040,614	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,629,203	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,138,392	N691S	probably benign	Het
Wdr24	T	A	17: 25,824,216	M4K	probably damaging	Het
Wdr48	T	C	9: 119,912,388	F332L	probably benign	Het
Xpo7	A	G	14: 70,666,026	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,779,412	I653N	probably damaging	Het
Zfp362	T	A	4: 128,794,888	M1L	unknown	Het
Zfp503	A	G	14: 21,985,973	C292R	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTGTGTCCAAGAAAGATCTG -3'
(R):5'- AGAACTCGGAAAGTCCTGGTC -3'

Sequencing Primer
(F):5'- CCTGTGTCCAAGAAAGATCTGACTTG -3'
(R):5'- AAAGTCCTGGTCCCTGGAG -3'

Posted On

2022-08-09