Mutagenetix > Incidental Mutation

Incidental Mutation 'R8775-TAIL:Alpk3'

668030

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R8775-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80707348-80755360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80727598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 243 (M243L)

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: M243L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: M243L

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: 99.8%
20x: 99.5%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	C	6: 39,552,142 (GRCm39)		probably null	Het
Anapc1	A	T	2: 128,499,093 (GRCm39)	Y860N	possibly damaging	Het
Asprv1	T	C	6: 86,605,321 (GRCm39)	S56P	probably damaging	Het
Blm	TCC	TCCACC	7: 80,162,679 (GRCm39)		probably benign	Het
D130043K22Rik	G	T	13: 25,040,982 (GRCm39)	E135*	probably null	Het
Dnmt3b	A	G	2: 153,511,711 (GRCm39)	H293R	possibly damaging	Het
Dsg1a	C	T	18: 20,473,564 (GRCm39)	S879L	probably damaging	Het
Fbxo24	C	T	5: 137,611,213 (GRCm39)	A526T	possibly damaging	Het
Fign	A	T	2: 63,810,891 (GRCm39)	D126E	probably benign	Het
Gpr137	A	G	19: 6,915,800 (GRCm39)	F377L	probably damaging	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Iigp1	A	C	18: 60,523,596 (GRCm39)	Y238S	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Kcnip2	T	C	19: 45,782,149 (GRCm39)	N258S	possibly damaging	Het
Lcat	A	G	8: 106,669,023 (GRCm39)	I84T	possibly damaging	Het
Mansc1	C	T	6: 134,587,631 (GRCm39)	R182H	probably benign	Het
Myh4	T	C	11: 67,148,006 (GRCm39)	M1685T	probably benign	Het
Myo10	T	A	15: 25,800,145 (GRCm39)	V1407E	probably damaging	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nckap1	A	G	2: 80,375,410 (GRCm39)	S297P	probably benign	Het
Nefm	T	C	14: 68,362,108 (GRCm39)	Y52C	probably damaging	Het
Ntng2	A	T	2: 29,117,976 (GRCm39)	N157K	possibly damaging	Het
Oscp1	T	C	4: 125,970,619 (GRCm39)	V136A	probably benign	Het
Oser1	G	A	2: 163,249,004 (GRCm39)	T66I	probably benign	Het
Palld	A	G	8: 62,138,006 (GRCm39)	L583P	possibly damaging	Het
Pex7	A	G	10: 19,760,522 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,004,204 (GRCm39)	Y378H	probably benign	Het
Prss33	T	A	17: 24,052,885 (GRCm39)	N263I	possibly damaging	Het
Psg25	A	C	7: 18,255,153 (GRCm39)	C454W	probably damaging	Het
Ptpn21	T	C	12: 98,649,001 (GRCm39)		probably null	Het
Sh3bp2	A	T	5: 34,719,751 (GRCm39)	S587C	probably damaging	Het
Sos2	A	G	12: 69,664,006 (GRCm39)	F493L	probably benign	Het
St8sia4	T	A	1: 95,519,472 (GRCm39)	T339S	possibly damaging	Het
Taok1	T	C	11: 77,470,632 (GRCm39)	K58E	probably benign	Het
Thsd1	A	G	8: 22,749,643 (GRCm39)	D838G	possibly damaging	Het
Tulp2	A	G	7: 45,164,914 (GRCm39)	T65A	probably benign	Het
Usp54	A	T	14: 20,638,466 (GRCm39)	S205T	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r37	A	T	7: 9,218,991 (GRCm39)	Y464*	probably null	Het
Wdsub1	A	G	2: 59,693,014 (GRCm39)	M300T	probably damaging	Het
Xrcc5	C	T	1: 72,433,089 (GRCm39)	T716I	probably benign	Het
Zfp619	G	T	7: 39,184,639 (GRCm39)	C223F	possibly damaging	Het

Other mutations in Alpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Alpk3	APN	7	80,727,757 (GRCm39)	missense	possibly damaging	0.95
IGL00472:Alpk3	APN	7	80,745,401 (GRCm39)	splice site	probably benign
IGL01732:Alpk3	APN	7	80,707,390 (GRCm39)	missense	unknown
IGL01750:Alpk3	APN	7	80,742,030 (GRCm39)	missense	probably damaging	1.00
IGL01812:Alpk3	APN	7	80,749,950 (GRCm39)	missense	probably damaging	1.00
IGL02224:Alpk3	APN	7	80,726,616 (GRCm39)	splice site	probably benign
IGL02292:Alpk3	APN	7	80,727,653 (GRCm39)	missense	possibly damaging	0.46
IGL02340:Alpk3	APN	7	80,728,255 (GRCm39)	missense	probably benign	0.03
IGL02517:Alpk3	APN	7	80,727,643 (GRCm39)	missense	probably benign	0.00
IGL02725:Alpk3	APN	7	80,743,358 (GRCm39)	missense	possibly damaging	0.91
IGL02755:Alpk3	APN	7	80,743,507 (GRCm39)	missense	possibly damaging	0.71
IGL03035:Alpk3	APN	7	80,728,352 (GRCm39)	missense	probably benign	0.00
IGL03102:Alpk3	APN	7	80,744,804 (GRCm39)	critical splice donor site	probably null
IGL03153:Alpk3	APN	7	80,743,143 (GRCm39)	missense	probably benign	0.00
IGL03255:Alpk3	APN	7	80,742,310 (GRCm39)	missense	probably benign	0.01
IGL03367:Alpk3	APN	7	80,744,738 (GRCm39)	missense	probably benign	0.01
FR4304:Alpk3	UTSW	7	80,727,510 (GRCm39)	small insertion	probably benign
FR4737:Alpk3	UTSW	7	80,727,510 (GRCm39)	small insertion	probably benign
IGL03097:Alpk3	UTSW	7	80,743,657 (GRCm39)	missense	probably benign	0.00
R0092:Alpk3	UTSW	7	80,742,301 (GRCm39)	missense	probably benign
R0254:Alpk3	UTSW	7	80,726,722 (GRCm39)	missense	probably benign	0.43
R0310:Alpk3	UTSW	7	80,728,358 (GRCm39)	missense	possibly damaging	0.61
R0325:Alpk3	UTSW	7	80,717,701 (GRCm39)	missense	possibly damaging	0.58
R0387:Alpk3	UTSW	7	80,753,975 (GRCm39)	missense	possibly damaging	0.93
R0971:Alpk3	UTSW	7	80,742,327 (GRCm39)	missense	possibly damaging	0.55
R1078:Alpk3	UTSW	7	80,728,348 (GRCm39)	missense	probably benign
R1146:Alpk3	UTSW	7	80,727,343 (GRCm39)	missense	probably damaging	0.99
R1146:Alpk3	UTSW	7	80,727,343 (GRCm39)	missense	probably damaging	0.99
R1168:Alpk3	UTSW	7	80,753,105 (GRCm39)	missense	probably damaging	1.00
R1306:Alpk3	UTSW	7	80,743,621 (GRCm39)	missense	probably damaging	1.00
R1822:Alpk3	UTSW	7	80,726,679 (GRCm39)	nonsense	probably null
R2173:Alpk3	UTSW	7	80,726,648 (GRCm39)	missense	probably damaging	1.00
R2350:Alpk3	UTSW	7	80,744,718 (GRCm39)	missense	probably damaging	1.00
R2414:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R2417:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R2885:Alpk3	UTSW	7	80,749,940 (GRCm39)	missense	probably damaging	1.00
R3004:Alpk3	UTSW	7	80,753,103 (GRCm39)	nonsense	probably null
R3796:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3797:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3798:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3799:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3894:Alpk3	UTSW	7	80,728,138 (GRCm39)	missense	possibly damaging	0.93
R4395:Alpk3	UTSW	7	80,744,703 (GRCm39)	missense	probably damaging	1.00
R4761:Alpk3	UTSW	7	80,753,916 (GRCm39)	missense	probably damaging	0.99
R5505:Alpk3	UTSW	7	80,728,309 (GRCm39)	missense	possibly damaging	0.87
R5540:Alpk3	UTSW	7	80,745,184 (GRCm39)	missense	probably damaging	1.00
R5770:Alpk3	UTSW	7	80,728,310 (GRCm39)	missense	probably benign	0.02
R5941:Alpk3	UTSW	7	80,728,401 (GRCm39)	missense	probably damaging	1.00
R5964:Alpk3	UTSW	7	80,742,008 (GRCm39)	missense	possibly damaging	0.88
R6036:Alpk3	UTSW	7	80,743,005 (GRCm39)	missense	probably benign	0.34
R6036:Alpk3	UTSW	7	80,743,005 (GRCm39)	missense	probably benign	0.34
R6066:Alpk3	UTSW	7	80,726,698 (GRCm39)	missense	possibly damaging	0.89
R6517:Alpk3	UTSW	7	80,728,327 (GRCm39)	missense	possibly damaging	0.54
R6578:Alpk3	UTSW	7	80,728,432 (GRCm39)	missense	probably benign	0.00
R7230:Alpk3	UTSW	7	80,743,042 (GRCm39)	missense	probably damaging	1.00
R7266:Alpk3	UTSW	7	80,742,328 (GRCm39)	missense	possibly damaging	0.55
R7271:Alpk3	UTSW	7	80,728,202 (GRCm39)	missense	possibly damaging	0.92
R7402:Alpk3	UTSW	7	80,726,660 (GRCm39)	missense	probably benign	0.29
R7411:Alpk3	UTSW	7	80,742,600 (GRCm39)	missense	probably benign	0.11
R7454:Alpk3	UTSW	7	80,728,310 (GRCm39)	missense	probably benign	0.02
R7468:Alpk3	UTSW	7	80,750,746 (GRCm39)	nonsense	probably null
R7940:Alpk3	UTSW	7	80,743,693 (GRCm39)	missense	probably damaging	1.00
R8157:Alpk3	UTSW	7	80,743,470 (GRCm39)	missense	probably benign	0.00
R8246:Alpk3	UTSW	7	80,742,524 (GRCm39)	missense	probably benign	0.00
R8357:Alpk3	UTSW	7	80,743,066 (GRCm39)	missense	probably damaging	1.00
R8444:Alpk3	UTSW	7	80,707,468 (GRCm39)	missense	probably benign	0.08
R8457:Alpk3	UTSW	7	80,743,066 (GRCm39)	missense	probably damaging	1.00
R8775:Alpk3	UTSW	7	80,727,598 (GRCm39)	missense	probably benign	0.00
R8794:Alpk3	UTSW	7	80,707,403 (GRCm39)	missense	unknown
R8982:Alpk3	UTSW	7	80,748,750 (GRCm39)	missense	probably damaging	1.00
R9259:Alpk3	UTSW	7	80,743,302 (GRCm39)	missense	probably damaging	1.00
R9343:Alpk3	UTSW	7	80,742,079 (GRCm39)	missense	probably benign	0.27
R9567:Alpk3	UTSW	7	80,742,687 (GRCm39)	missense	possibly damaging	0.55
R9792:Alpk3	UTSW	7	80,750,881 (GRCm39)	critical splice donor site	probably null
R9793:Alpk3	UTSW	7	80,750,881 (GRCm39)	critical splice donor site	probably null
R9798:Alpk3	UTSW	7	80,742,400 (GRCm39)	missense	probably benign	0.02
RF034:Alpk3	UTSW	7	80,742,162 (GRCm39)	small deletion	probably benign
RF057:Alpk3	UTSW	7	80,742,165 (GRCm39)	frame shift	probably null
X0022:Alpk3	UTSW	7	80,743,645 (GRCm39)	missense	probably damaging	0.96
Z1176:Alpk3	UTSW	7	80,728,374 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2021-03-08