Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Alpk3'

578953

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

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

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 81100998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1505 (Y1505*)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000107348
AA Change: Y1505*

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Y1505*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,622,534	N90K	possibly damaging	Het
Acox1	T	C	11: 116,178,175	T415A	possibly damaging	Het
Acy1	T	C	9: 106,437,722	M1V	probably null	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Ankrd17	T	C	5: 90,243,043	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,149,292	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,280,671	K1291*	probably null	Het
Arl9	T	A	5: 77,010,429	Y119*	probably null	Het
Asb14	T	C	14: 26,900,848	V89A	probably benign	Het
Banp	T	G	8: 121,949,849		probably null	Het
BC051142	T	A	17: 34,417,565		probably null	Het
Btn2a2	T	C	13: 23,482,763	N224S	probably benign	Het
C1ra	C	T	6: 124,522,444	Q530*	probably null	Het
C2cd6	A	C	1: 59,068,685	S273A	probably benign	Het
Cd1d2	A	T	3: 86,988,276		probably null	Het
Cdc42bpb	T	C	12: 111,339,873	D132G	probably damaging	Het
Cfap45	C	A	1: 172,535,310	Y289*	probably null	Het
Chrdl2	T	C	7: 100,010,125		probably null	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Dcaf11	T	C	14: 55,565,509	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,259,623	F641S	probably damaging	Het
Dnm3	G	A	1: 162,321,629		probably null	Het
Eral1	T	C	11: 78,075,393	K320E	probably damaging	Het
Eva1a	A	G	6: 82,092,021	T110A	possibly damaging	Het
Fbxo42	A	G	4: 141,199,606	D399G	possibly damaging	Het
Frs2	T	C	10: 117,074,102	T452A	possibly damaging	Het
Git2	T	A	5: 114,733,897	D542V	probably damaging	Het
Gm11639	G	T	11: 104,749,700	S1088I	probably benign	Het
Grk2	T	A	19: 4,306,035		probably benign	Het
Gsg1l2	A	G	11: 67,785,284	N158S	possibly damaging	Het
Hc	T	C	2: 35,028,051	N740S	probably benign	Het
Hectd1	T	C	12: 51,744,805		probably null	Het
Hemk1	A	G	9: 107,331,089		probably null	Het
Hormad2	G	T	11: 4,412,245	Y126*	probably null	Het
Hr	A	G	14: 70,558,212	E399G	possibly damaging	Het
Ick	A	G	9: 78,157,939	K377R	probably benign	Het
Ilf3	C	A	9: 21,403,411	H780N	unknown	Het
Inpp5e	A	T	2: 26,408,149	S147T	probably benign	Het
Jmjd6	T	C	11: 116,842,449	D134G	probably damaging	Het
Kif23	G	T	9: 61,937,175	Y120*	probably null	Het
Klk12	T	A	7: 43,773,356	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,802,799	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,949,306	T278A	unknown	Het
Lca5	T	A	9: 83,423,456	D99V	probably damaging	Het
Leng9	A	G	7: 4,148,801	V292A	probably benign	Het
Lime1	A	G	2: 181,383,342	R231G	probably benign	Het
Lrmp	C	A	6: 145,173,701		probably null	Het
Mctp2	T	A	7: 72,211,690	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,124,615	S116R	probably damaging	Het
Muc15	A	T	2: 110,731,517	R99S	probably benign	Het
Myh2	G	A	11: 67,192,542	A1444T	probably benign	Het
Mynn	T	A	3: 30,603,676	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,797,480	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,693,054	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,445,512	D625E	probably benign	Het
Olfr1192-ps1	T	C	2: 88,652,278	L42P	probably damaging	Het
Olfr122	C	T	17: 37,772,019	A122V	probably damaging	Het
Olfr96	T	C	17: 37,225,385	F87L	probably benign	Het
Otog	T	C	7: 46,264,119	V792A	probably benign	Het
Paqr8	T	C	1: 20,935,218	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,315,021	D76G	probably damaging	Het
Ppme1	T	C	7: 100,341,862	N210D	probably benign	Het
Prdm15	A	C	16: 97,835,642	Y158*	probably null	Het
Prrg2	A	T	7: 45,060,263	L70Q	probably benign	Het
Psmg4	C	T	13: 34,177,983	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,689,652	T437S	probably benign	Het
Rap2a	T	A	14: 120,478,926	M67K	probably damaging	Het
Rnf123	A	T	9: 108,069,009	H322Q	probably benign	Het
Rxfp2	A	T	5: 150,067,336	T521S	possibly damaging	Het
Scrn2	T	G	11: 97,033,166	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,411,397	P303H	probably benign	Het
Spop	C	T	11: 95,485,901	T260M	probably damaging	Het
Surf2	G	A	2: 26,919,342	G224D	probably benign	Het
Synm	T	G	7: 67,733,223	N669T	unknown	Het
Tmprss13	T	C	9: 45,328,423	S10P	unknown	Het
Trav9d-1	T	A	14: 52,792,513	S25T	probably benign	Het
Trpc3	A	T	3: 36,624,416	I840K	probably damaging	Het
Tssc4	C	A	7: 143,069,262		probably benign	Het
Ttc39d	G	T	17: 80,216,150	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,799,334	S78R	probably damaging	Het
Vmn1r142	T	A	7: 22,163,359	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 20,846,884	S112P	probably damaging	Het
Wrnip1	T	C	13: 32,816,377	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,933,295	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,414,695	V28A	probably benign	Het
Zdbf2	T	A	1: 63,307,510	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,425,604		probably null	Het
Zmym4	A	G	4: 126,882,236	S1260P	probably benign	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
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'- AGAACTCTTTCCAGGAAGGC -3'
(R):5'- CACAGGAGAATAAGCGCTTTGG -3'

Sequencing Primer
(F):5'- GAAGGCCCCTTCTTTTAGGTAAATCG -3'
(R):5'- ATGCTCTGCCTTCTCCACATG -3'

Posted On

2019-10-07