Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Alpk3'

31348

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81104227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1652 (T1652S)

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: T1652S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: T1652S

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,332,852		probably null	Het
Abcc9	T	A	6: 142,639,504	K825*	probably null	Het
Afp	T	C	5: 90,497,291	C189R	probably damaging	Het
Akap9	T	C	5: 3,951,678		probably benign	Het
Atg4b	C	A	1: 93,786,556	Q354K	probably benign	Het
Atxn2	T	C	5: 121,802,143	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,422,507		probably benign	Het
Cacna2d2	C	A	9: 107,513,881	T403K	probably damaging	Het
Cap2	C	T	13: 46,560,516	H79Y	probably damaging	Het
Car10	G	T	11: 93,583,021		probably null	Het
Ccno	T	C	13: 112,989,867	L290P	probably damaging	Het
Cfap69	T	C	5: 5,589,303	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,586,130	M568V	probably benign	Het
Cyp1b1	C	A	17: 79,713,774	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,295,552		probably null	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnm1	C	T	2: 32,320,581	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,918,213	L698P	probably damaging	Het
Dock10	C	A	1: 80,540,276	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,546,855		noncoding transcript	Het
Dpyd	G	A	3: 119,427,226	D949N	probably benign	Het
Dync2li1	A	G	17: 84,655,340	K345E	possibly damaging	Het
Eml2	T	A	7: 19,182,259		probably null	Het
Exoc7	A	G	11: 116,294,401		probably benign	Het
Faah	A	T	4: 116,005,692	C113*	probably null	Het
Fcf1	T	A	12: 84,973,002	D16E	probably benign	Het
Fcgbp	T	C	7: 28,091,454		probably benign	Het
Ghr	A	G	15: 3,319,891	S602P	probably benign	Het
Gm10334	A	G	6: 41,443,369	I141T	possibly damaging	Het
Gm5114	T	C	7: 39,408,809	D462G	probably benign	Het
Gm8186	T	A	17: 26,099,026	S66C	probably damaging	Het
Gorab	C	T	1: 163,396,834	V133M	probably benign	Het
Gria1	G	A	11: 57,309,884		probably null	Het
Grik1	T	A	16: 88,034,350		probably benign	Het
Gtf3c1	A	G	7: 125,681,104	L378P	probably damaging	Het
Htr5b	A	T	1: 121,527,546	V215D	probably damaging	Het
Htra1	A	G	7: 130,979,478	T319A	probably damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,609,734	H189Q	possibly damaging	Het
Lhfp	A	G	3: 53,043,328	T8A	probably benign	Het
Ly75	T	A	2: 60,306,404	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,281,096	I301T	possibly damaging	Het
Mlkl	C	T	8: 111,333,350	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,499,160	M1R	probably null	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Mtbp	A	G	15: 55,611,029	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,285,021		probably benign	Het
Nos3	A	G	5: 24,367,585	K174R	probably damaging	Het
Oas2	A	T	5: 120,745,672		probably benign	Het
Olfr889	T	A	9: 38,115,770		probably null	Het
Pi4kb	G	C	3: 94,984,740	E256Q	probably benign	Het
Pik3c2a	T	A	7: 116,373,744	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,432,601	K1031N	probably benign	Het
Plk4	A	T	3: 40,812,884		probably benign	Het
Polq	T	C	16: 37,029,430	C349R	probably damaging	Het
Polq	G	T	16: 37,089,317	E2354D	probably damaging	Het
Prss22	A	G	17: 23,993,929	L278P	probably damaging	Het
Ptprk	G	A	10: 28,354,629	V239I	possibly damaging	Het
Raph1	T	G	1: 60,510,496		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripor3	C	T	2: 167,983,772	W755*	probably null	Het
Rnd3	G	T	2: 51,148,231	D77E	probably damaging	Het
Ryr1	T	C	7: 29,083,367		probably benign	Het
Serpinb1a	C	T	13: 32,848,738	V63I	probably benign	Het
Six1	T	G	12: 73,046,041	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,703,501	T271I	probably damaging	Het
Stab1	T	C	14: 31,148,101	D1387G	probably benign	Het
Stra6	T	A	9: 58,153,183	M625K	probably benign	Het
Syne1	T	C	10: 5,351,029	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,796,700	K101N	probably benign	Het
Tigd2	T	C	6: 59,211,158	Y337H	probably benign	Het
Tnxb	A	G	17: 34,683,574	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,686,935	I288T	probably damaging	Het
Ulk1	A	G	5: 110,788,797	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,957,376	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,800,947	M12L	probably benign	Het
Zfp106	T	C	2: 120,528,472		probably null	Het
Zfp74	T	A	7: 29,934,754	T510S	probably benign	Het
Zfp808	A	G	13: 62,169,478	T14A	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCACCAGTGTAACACCTACTGTGAC -3'
(R):5'- TGTGCCCAAAGCCTTCCAATGAG -3'

Sequencing Primer
(F):5'- GTAACACCTACTGTGACATGCTG -3'
(R):5'- GCCTTCCAATGAGGTGAAAC -3'

Posted On

2013-04-24