Mutagenetix > Incidental Mutation

Incidental Mutation 'R7230:Alpk3'

562419

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

045302-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R7230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81093294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 953 (P953L)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107348
AA Change: P953L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: P953L

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

0.2860

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	C	7: 46,117,388	D989E	probably benign	Het
Adad1	A	G	3: 37,065,166	Y132C	probably damaging	Het
Adam33	A	T	2: 131,053,563	C579S	probably damaging	Het
Adam6a	A	C	12: 113,545,582	Q525P	probably damaging	Het
Atat1	A	G	17: 35,909,439	S54P	probably damaging	Het
Bpgm	A	G	6: 34,487,567	E73G	possibly damaging	Het
Cab39	T	A	1: 85,848,159		probably null	Het
Ccdc162	A	G	10: 41,678,813	L285P	probably damaging	Het
Ccdc30	T	C	4: 119,339,782	E429G	possibly damaging	Het
Cct3	C	T	3: 88,313,260	R260W	probably damaging	Het
Chd1	C	A	17: 15,706,937		probably null	Het
Cxcr4	T	G	1: 128,589,790	T45P	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dlec1	T	G	9: 119,124,538		probably null	Het
Dram2	T	G	3: 106,572,978	Y202*	probably null	Het
Etl4	C	A	2: 20,797,988	T1035K	probably damaging	Het
F5	T	C	1: 164,184,953	F479L	probably benign	Het
Fam172a	G	A	13: 77,759,472	E5K	probably damaging	Het
Frrs1l	C	A	4: 56,972,372	G110W	probably damaging	Het
Gpbp1l1	T	A	4: 116,588,610	I303N	probably damaging	Het
Grik5	A	G	7: 25,023,070	F538S	probably damaging	Het
Hgsnat	C	A	8: 25,954,832		probably null	Het
Hs2st1	T	C	3: 144,434,546	D338G	probably benign	Het
Impdh1	T	C	6: 29,206,063		probably null	Het
Ipo9	T	C	1: 135,406,758		probably benign	Het
Kdm4b	T	G	17: 56,369,155	L220R	probably damaging	Het
Map1a	T	A	2: 121,300,818	F705Y	probably damaging	Het
Med22	C	T	2: 26,908,211	D99N	probably benign	Het
Muc6	T	C	7: 141,649,214	Y519C	probably damaging	Het
Myt1l	A	G	12: 29,783,874	I25M	probably damaging	Het
Ncam1	T	A	9: 49,509,823	I731F	probably benign	Het
Nlrp4f	T	A	13: 65,194,901	H310L	probably benign	Het
Olfr1286	A	T	2: 111,420,916	F12I	probably damaging	Het
Olfr1306	T	A	2: 111,912,561	Y123F	probably damaging	Het
Olfr694	A	T	7: 106,689,524	M69K	possibly damaging	Het
Olfr701	C	A	7: 106,818,179	T32K	possibly damaging	Het
Prl8a6	T	A	13: 27,433,038	Y223F	probably benign	Het
Prss39	A	G	1: 34,502,147	D244G	probably damaging	Het
Ptx4	A	T	17: 25,123,103	Q184L	possibly damaging	Het
Slc26a1	A	T	5: 108,671,745	D545E	probably damaging	Het
Slc7a12	T	C	3: 14,505,381	S398P	probably damaging	Het
Slc9a4	T	C	1: 40,600,771	V241A	probably damaging	Het
Snw1	T	C	12: 87,464,554	D109G	probably damaging	Het
Syne2	T	A	12: 75,933,900	I1477K	probably benign	Het
Timd4	A	T	11: 46,810,864	Y18F	probably benign	Het
Tmprss2	A	G	16: 97,578,597	Y168H	probably benign	Het
Ttn	A	T	2: 76,738,700	I27283K	probably damaging	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Vasn	C	T	16: 4,649,622	R478C	probably benign	Het
Zfp58	A	T	13: 67,491,963	C136*	probably null	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
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'- TAGTCTGCAGGAGGAGCTAC -3'
(R):5'- AAGTGATTGTTCTCCACGCG -3'

Sequencing Primer
(F):5'- AGGCACCGCAGCTTCTCTG -3'
(R):5'- ACGCGTTCCAGGATTCG -3'

Posted On

2019-06-26