Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Alpk3'

565291

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: 0.390) question?

Stock #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81078454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 444 (E444G)

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: E444G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: E444G

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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
A430105I19Rik	T	A	2: 118,760,683		probably null	Het
Afg1l	C	T	10: 42,415,548		probably null	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Amer2	T	A	14: 60,379,674	D439E	possibly damaging	Het
Ano6	A	G	15: 95,913,900	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,722,519	K827Q	probably benign	Het
Atp9a	G	A	2: 168,734,127			Het
Casp7	T	A	19: 56,436,361	C171S	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdkl1	A	G	12: 69,748,811	L315S	probably benign	Het
Crybg1	G	T	10: 43,997,623	S1163*	probably null	Het
Csmd1	A	T	8: 17,027,279	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,465,605	M88K	possibly damaging	Het
Dlc1	T	C	8: 36,582,800	Q587R	probably damaging	Het
Dock2	T	C	11: 34,273,750	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,241,249	T69S	possibly damaging	Het
Esr1	T	C	10: 4,783,874	C225R	probably damaging	Het
Fbxo31	C	T	8: 121,578,764		probably benign	Het
Fndc11	G	A	2: 181,222,100	V233I	possibly damaging	Het
Fto	T	C	8: 91,485,190	F381S	probably damaging	Het
Gm10471	G	A	5: 26,087,995	T67I	probably benign	Het
Gtf2ird1	A	G	5: 134,404,904	L223P	probably benign	Het
Ifi214	A	T	1: 173,529,476	H20Q	probably damaging	Het
Impa2	T	A	18: 67,306,736	I101N	probably damaging	Het
Kidins220	A	T	12: 25,011,571	T854S	probably benign	Het
Lamb1	T	A	12: 31,287,424	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,607,987	S543G	probably benign	Het
Maats1	A	G	16: 38,328,346	I240T	probably damaging	Het
Manba	A	T	3: 135,542,376	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,756,697	D758G	probably benign	Het
Mtor	G	T	4: 148,546,485	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409	M793K	probably damaging	Het
Nup133	A	C	8: 123,922,414	I563S	probably benign	Het
Olfr1117-ps1	T	A	2: 87,284,381	N30K	probably benign	Het
Olfr1283	A	G	2: 111,369,348	T239A	probably damaging	Het
Olfr479	G	A	7: 108,055,216	R78Q	probably damaging	Het
Olfr935	A	T	9: 38,994,657	Y259*	probably null	Het
Pcdh12	C	A	18: 38,283,047	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,308,169	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 125,886,951	A587V	probably benign	Het
Phkb	C	T	8: 86,043,789	P896S	probably damaging	Het
Prss36	A	G	7: 127,944,705	S165P	probably benign	Het
Prss43	A	G	9: 110,828,603	D190G	probably damaging	Het
Psmd14	T	C	2: 61,761,012	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,116,362	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,670,287	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,194,634	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,588,362	E262G	probably benign	Het
Slc7a14	A	G	3: 31,224,235	L407P	probably damaging	Het
Smyd4	T	C	11: 75,390,499	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,702,099	R738S	probably benign	Het
Srcin1	C	T	11: 97,551,889	G38S	probably damaging	Het
Stab2	A	T	10: 87,003,108		probably null	Het
Syde2	A	G	3: 146,020,276	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,884,352	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,688,661	I861F	possibly damaging	Het
Zfp319	G	A	8: 95,331,843		probably benign	Het
Zfp518b	T	C	5: 38,674,564	N33D	probably benign	Het
Zfp874a	T	A	13: 67,443,296	I90F	probably benign	Het
Zmiz2	G	T	11: 6,399,593	V412L	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
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
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'- CCTGGGATAGAAAGCACCAG -3'
(R):5'- TGGATTTAGGAGGGGCAAATCTC -3'

Sequencing Primer
(F):5'- GCACCAGGAAGACAGCCTCTG -3'
(R):5'- GGGGCAAATCTCTTCCTGTTCAAAG -3'

Posted On

2019-06-26