Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Alpk3'

577991

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

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

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81078562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 480 (E480A)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107348
AA Change: E480A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: E480A

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,836,851	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,688,304	T159K	unknown	Het
Adamts10	T	A	17: 33,545,005	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,828,315	S26L	unknown	Het
Anks6	T	C	4: 47,038,919	T529A	unknown	Het
Arl4d	A	G	11: 101,666,660	H4R	probably benign	Het
Ash1l	A	G	3: 88,983,865	H1017R	probably benign	Het
Bbs12	T	C	3: 37,320,953	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,916,208	R616L	possibly damaging	Het
Bean1	G	A	8: 104,211,026	G79D	probably damaging	Het
Bicra	C	G	7: 15,972,134	G1461R	probably benign	Het
Bptf	T	C	11: 107,044,640	T124A	probably benign	Het
Btnl4	A	T	17: 34,472,374	V312E	probably benign	Het
Ccdc7a	A	G	8: 128,944,516	M503T	unknown	Het
Celf5	T	C	10: 81,482,523	E28G	probably damaging	Het
Cilp2	G	A	8: 69,883,390	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,142,452	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,852,570	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,235,059	L857F	probably null	Het
Dnah6	T	A	6: 73,212,492	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,518,764	M2164L	probably benign	Het
Dspp	T	A	5: 104,175,610	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,659,674	V443M	possibly damaging	Het
Erc2	A	G	14: 28,302,991	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,348,546	H513N	probably benign	Het
Fam171a2	T	C	11: 102,439,717	T280A	possibly damaging	Het
Fam208b	A	G	13: 3,585,332	S492P	probably benign	Het
Fkbp5	A	C	17: 28,416,025	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,777,815		probably benign	Het
Fzd2	T	C	11: 102,605,129	F133S	probably damaging	Het
Galm	A	G	17: 80,138,121	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,598,159	I5N	possibly damaging	Het
Gga2	T	C	7: 122,002,146	R245G	probably benign	Het
Gm10053	A	G	19: 24,875,900	T50A	probably benign	Het
Gm1110	T	C	9: 26,920,649	T69A	probably benign	Het
Gm15922	T	G	7: 3,735,510	E622D	probably benign	Het
Heatr5a	T	C	12: 51,961,543	S6G	probably benign	Het
Hmcn1	A	G	1: 150,563,604	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,260,406	V123A	probably damaging	Het
Itgal	C	A	7: 127,327,764	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,175,154	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,893,944		probably null	Het
Kat6a	A	G	8: 22,935,772	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,389,639	P452T	probably benign	Het
Krit1	T	C	5: 3,812,474	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,419,912	Y56N	unknown	Het
Lig1	A	T	7: 13,288,721	D158V	probably damaging	Het
Lmo1	A	T	7: 109,140,666	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,632,243	L114H	probably damaging	Het
Ltn1	T	C	16: 87,397,812	I1400V	probably benign	Het
Mark3	T	C	12: 111,604,527	I87T	probably damaging	Het
Mfrp	G	T	9: 44,105,183	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,765,135	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,566,926	M1K	probably null	Het
Nme7	T	A	1: 164,380,648	L295*	probably null	Het
Noct	G	T	3: 51,249,730	C163F	probably damaging	Het
Olfr1270	T	A	2: 90,149,419	I196F	possibly damaging	Het
Olfr229	A	G	9: 39,909,904	I34V	probably benign	Het
Olfr541	A	T	7: 140,704,634	I128F	probably damaging	Het
Olfr747	T	A	14: 50,680,824	Q270L	possibly damaging	Het
Olfr772	T	A	10: 129,174,455	T189S	probably damaging	Het
Olfr992	T	A	2: 85,399,611	K307N	probably damaging	Het
Patz1	C	T	11: 3,298,297		probably benign	Het
Per3	A	G	4: 151,012,728	L780P	probably benign	Het
Pla2g4a	T	C	1: 149,872,690	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,741,100	K395R	probably benign	Het
Poc5	G	T	13: 96,400,832	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,324,135	S434P	possibly damaging	Het
Prss42	A	G	9: 110,798,829	N110S	probably benign	Het
Ralgapb	T	A	2: 158,432,902	I241N	possibly damaging	Het
Rbak	A	C	5: 143,173,773	Y508*	probably null	Het
S1pr2	G	T	9: 20,967,549	R328S	possibly damaging	Het
Sap130	T	C	18: 31,650,512	M214T	probably benign	Het
Slc46a1	T	A	11: 78,466,511	V130E	probably damaging	Het
Smc4	A	T	3: 69,018,124	H343L	probably benign	Het
Tarbp1	C	A	8: 126,457,677	R500L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,954,659	S235P	probably benign	Het
Trbc2	G	T	6: 41,546,829	R33M		Het
Trim3	C	T	7: 105,619,558	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,285,484	V2128A	probably benign	Het
Ttn	C	T	2: 76,725,818	R30281H	probably damaging	Het
Ttn	T	A	2: 76,944,139	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,629,425	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,603,307	D322V	probably benign	Het
Wdr38	C	T	2: 38,998,340		probably benign	Het
Xrn1	T	A	9: 96,048,358	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,432,769	T201I	possibly 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
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
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'- ATTCAAGACAAGGTCCAGGATG -3'
(R):5'- TAGAGCCTTCCCTAAGCTCTG -3'

Sequencing Primer
(F):5'- ACAAGGTCCAGGATGTCCCC -3'
(R):5'- AAGCTCTGGGCCATAGATTC -3'

Posted On

2019-10-07