Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Alpk3'

237618

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

040175-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R2173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81076900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 111 (Y111C)

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: Y111C

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

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Y111C

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

0.3902

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	C	17: 25,948,487	H25Q	probably damaging	Het
Alpk1	T	A	3: 127,683,590	H273L	probably damaging	Het
Anapc2	T	G	2: 25,273,276	V175G	probably benign	Het
Arhgap30	T	C	1: 171,407,767	S570P	probably damaging	Het
AU040320	T	C	4: 126,792,276	L215P	probably benign	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,721,033	N298D	probably benign	Het
Cfap70	T	A	14: 20,408,562	N727Y	probably benign	Het
Clcn7	A	G	17: 25,145,609	H63R	probably benign	Het
Corin	A	T	5: 72,504,079	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,677,515	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,762,812	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,242,367		probably null	Het
Eri2	A	G	7: 119,786,543	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,658,892	F73L	probably benign	Het
Fam110a	A	G	2: 151,970,509	C114R	probably damaging	Het
Fam149a	T	C	8: 45,353,954	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,225,619	Y596*	probably null	Het
Fsd1	A	G	17: 55,991,223	T183A	possibly damaging	Het
Fut10	T	A	8: 31,236,131	Y305N	probably damaging	Het
Ganab	A	T	19: 8,902,260		probably benign	Het
Gm9922	G	T	14: 101,729,576		probably benign	Het
Gp9	A	G	6: 87,779,053	T17A	probably benign	Het
Gxylt2	T	C	6: 100,798,154	Y345H	probably damaging	Het
Herc2	A	G	7: 56,185,951	H3269R	probably benign	Het
Hpx	A	T	7: 105,592,083	S374T	probably benign	Het
Hspa5	T	C	2: 34,774,662	V376A	probably damaging	Het
Hyi	T	C	4: 118,362,184		probably benign	Het
Impdh2	G	A	9: 108,565,394		probably null	Het
Kremen2	A	C	17: 23,742,796	W246G	probably damaging	Het
Krt83	A	G	15: 101,487,937	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,587,193	H398L	probably damaging	Het
Lama5	C	A	2: 180,196,242	V894L	probably benign	Het
Maml2	A	G	9: 13,621,616		probably benign	Het
Nup153	A	T	13: 46,701,600		probably benign	Het
Olfr1387	G	T	11: 49,460,140	V154L	probably benign	Het
Olfr177	A	G	16: 58,872,619	F177S	probably damaging	Het
Olfr824	G	A	10: 130,126,503	P185S	probably benign	Het
Olfr918	T	C	9: 38,672,944	I180V	probably benign	Het
Olfr981	T	G	9: 40,023,254	I287S	probably damaging	Het
Otof	C	T	5: 30,386,374	R582H	probably damaging	Het
Otud4	T	C	8: 79,668,464	S543P	probably damaging	Het
Pde6a	A	G	18: 61,254,382	D448G	probably damaging	Het
Phgdh	A	G	3: 98,315,111	V388A	probably benign	Het
Plin3	G	T	17: 56,279,891	D385E	possibly damaging	Het
Polg	G	T	7: 79,455,593	D734E	probably damaging	Het
Pomt1	T	C	2: 32,250,900	Y515H	probably damaging	Het
Pwwp2a	G	A	11: 43,682,486	A132T	probably benign	Het
Rbm6	A	T	9: 107,852,191	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,956,716		probably null	Het
Rnf135	G	A	11: 80,189,240	S119N	probably benign	Het
Scfd1	T	A	12: 51,387,079	D51E	probably benign	Het
Smox	A	T	2: 131,512,024	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,518,615		probably null	Het
Syne2	T	A	12: 76,100,989		probably benign	Het
Tcf20	A	G	15: 82,854,692	S853P	possibly damaging	Het
Tmem131l	A	G	3: 83,926,145	F804L	probably damaging	Het
Ttll8	A	G	15: 88,914,597	L645P	probably damaging	Het
Ubr3	T	A	2: 69,897,399	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,256,076		probably benign	Het
Vmn2r70	A	T	7: 85,565,082	H287Q	probably benign	Het
Vps26a	A	T	10: 62,468,392	I150N	probably damaging	Het
Zfp605	G	A	5: 110,127,457	R147H	probably benign	Het
Zfyve16	A	G	13: 92,495,088	M1333T	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
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'- CCTACTTTCTGAAGCTGAGCTGAG -3'
(R):5'- TGCCCTCTAACTCCAGAGAG -3'

Sequencing Primer
(F):5'- AGTGACAGGGACAGTGCCTC -3'
(R):5'- GCGTTTCCACCCAGCTGAC -3'

Posted On

2014-10-02