Mutagenetix > Incidental Mutation

Incidental Mutation 'R0310:Alpk3'

25161

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

038520-MU

Accession Numbers

Essential gene?

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

Stock #

R0310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 81078610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 496 (P496R)

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: P496R

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: P496R

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

0.1795

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,425,671	T92P	probably damaging	Het
9530053A07Rik	G	T	7: 28,142,274	V545L	probably benign	Het
Abca13	T	C	11: 9,293,810	V1891A	probably benign	Het
Abcc1	T	A	16: 14,410,927	I346N	probably damaging	Het
Afdn	G	T	17: 13,885,508		probably null	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akap13	A	G	7: 75,614,930	D507G	probably damaging	Het
Akap8	A	T	17: 32,316,260	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,365,259	V265A	probably benign	Het
Ankrd13b	A	G	11: 77,472,745	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,075,830	V995A	probably benign	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atad2	G	A	15: 58,114,257	A499V	probably damaging	Het
Barhl2	G	T	5: 106,457,387	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,321,045	D547E	probably damaging	Het
Btaf1	A	G	19: 37,004,534	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,406,658	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,774,552		probably benign	Het
Cdh15	A	G	8: 122,865,436	D654G	probably damaging	Het
Cebpz	T	C	17: 78,926,124	D758G	probably damaging	Het
Cgn	C	T	3: 94,765,653	R906K	possibly damaging	Het
Chil3	T	A	3: 106,160,523	M109L	possibly damaging	Het
Cntnap4	A	T	8: 112,842,516		probably null	Het
Cyp4f18	C	T	8: 72,001,012		probably benign	Het
Daam2	A	G	17: 49,463,924		probably null	Het
Ddost	T	A	4: 138,310,611	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,464,201		probably benign	Het
Depdc1b	G	A	13: 108,373,841	V296I	possibly damaging	Het
Dnah5	A	T	15: 28,299,110	R1539S	probably benign	Het
Dusp22	T	C	13: 30,705,658	I74T	probably damaging	Het
Dyx1c1	A	T	9: 72,972,336	D386V	probably damaging	Het
E130309D02Rik	G	T	5: 143,307,888	T278K	probably benign	Het
Epc1	A	G	18: 6,440,202		probably benign	Het
Epha7	A	G	4: 28,961,301	I845V	probably benign	Het
Fanci	C	T	7: 79,407,417		probably benign	Het
Fbn1	T	A	2: 125,363,644	E1104V	probably damaging	Het
Fbxo8	T	A	8: 56,590,097	F205L	probably damaging	Het
Fetub	T	C	16: 22,929,756		probably benign	Het
Frs3	T	C	17: 47,703,822	V480A	probably benign	Het
Gne	C	A	4: 44,060,157	E79*	probably null	Het
Hrc	T	A	7: 45,336,497	H357Q	probably benign	Het
Idh1	T	C	1: 65,161,920	M291V	probably damaging	Het
Iltifb	T	A	10: 118,293,185	H133L	probably benign	Het
Ino80b	T	C	6: 83,124,091	E165G	probably damaging	Het
Inppl1	A	T	7: 101,828,499		probably benign	Het
Ip6k2	T	C	9: 108,799,233		probably benign	Het
Itga11	A	T	9: 62,760,346	I654F	probably damaging	Het
Jag2	G	T	12: 112,913,377		probably benign	Het
Katna1	G	T	10: 7,743,749		probably benign	Het
Kcnh4	G	T	11: 100,746,169	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,560,518	L387R	probably damaging	Het
Khnyn	A	G	14: 55,887,968	T503A	probably damaging	Het
Lama5	G	T	2: 180,181,566		probably benign	Het
Lmbr1l	A	T	15: 98,908,773		probably benign	Het
Mast4	A	T	13: 102,754,161	S870T	possibly damaging	Het
Med1	A	G	11: 98,167,574	Y266H	probably benign	Het
Med13	A	T	11: 86,346,003	N109K	probably benign	Het
Mgam	T	C	6: 40,761,035		probably benign	Het
Mmp8	A	G	9: 7,561,454	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,461,691	T171N	probably benign	Het
Mtus2	T	C	5: 148,107,019	S806P	probably benign	Het
Naip2	T	A	13: 100,148,842	E1226V	probably damaging	Het
Naip6	A	G	13: 100,308,213	F246L	possibly damaging	Het
Nav3	T	C	10: 109,767,128	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,305,370		probably benign	Het
Nbeal2	C	A	9: 110,638,163	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,827,532		probably benign	Het
Nlrp5	G	T	7: 23,430,157	C883F	probably damaging	Het
Nr0b2	C	A	4: 133,555,992		probably null	Het
Olfr24	T	A	9: 18,755,333	M101L	possibly damaging	Het
Olfr799	T	A	10: 129,647,731	V201E	probably damaging	Het
Olfr822	G	A	10: 130,074,823	V138I	probably benign	Het
Olfr888	T	A	9: 38,109,486	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,549,822		probably null	Het
Pkhd1l1	A	G	15: 44,522,738		probably benign	Het
Ppm1l	A	G	3: 69,549,461	K237R	probably benign	Het
Ppp1r18	T	C	17: 35,873,711		probably benign	Het
Ptpn3	A	T	4: 57,204,958	D734E	probably benign	Het
Pxdn	T	C	12: 30,015,529	C1283R	probably damaging	Het
Rbm12	A	G	2: 156,095,724		probably benign	Het
Rttn	A	T	18: 89,009,460		probably benign	Het
Sgsm1	G	T	5: 113,263,705	H431Q	probably benign	Het
Siah3	A	G	14: 75,525,927	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,860,511	D521E	probably benign	Het
Sprr2k	A	T	3: 92,433,463		probably benign	Het
Stab2	G	A	10: 86,967,613		probably benign	Het
Sval3	T	A	6: 41,968,186	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Tk1	T	C	11: 117,817,095		probably benign	Het
Tlk2	C	A	11: 105,254,973	A335E	probably benign	Het
Tmtc1	T	C	6: 148,249,581	K659E	probably benign	Het
Tnk2	C	T	16: 32,680,590	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043	K211N	probably damaging	Het
Trim15	A	C	17: 36,866,986	L39R	probably damaging	Het
Tspan15	T	A	10: 62,188,093	T269S	probably benign	Het
Ttc7	T	A	17: 87,361,864	D646E	probably benign	Het
Ttll6	A	T	11: 96,147,556	Q410L	probably benign	Het
Unc79	A	G	12: 103,061,407	Q419R	probably damaging	Het
Vcam1	A	T	3: 116,114,416	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,113,501	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 12,193,848	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,290,943	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,134,618	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,389,434	Y643*	probably null	Het
Vmn2r52	T	A	7: 10,159,466	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 42,195,140	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,609,746	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het
Zkscan7	G	T	9: 122,888,893	E118*	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
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
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'- GCAGGTGTATTTCTCCCTGAAGGAC -3'
(R):5'- CAGTTTCCCAGAGCAGCCTCTAAG -3'

Sequencing Primer
(F):5'- TACCAGGGTAGCTGGAGAAAGT -3'
(R):5'- TGCAAGGGGCTATCTCGG -3'

Posted On

2013-04-16