Mutagenetix > Incidental Mutation

Incidental Mutation 'R2350:Alpk3'

246062

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

040332-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R2350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80707348-80755360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80744718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1271 (L1271P)

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: L1271P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: L1271P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151115

Meta Mutation Damage Score

0.9044

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (40/40)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,655,047 (GRCm39)		probably benign	Het
Adam12	T	C	7: 133,521,253 (GRCm39)	T312A	probably damaging	Het
Adamts20	C	T	15: 94,181,797 (GRCm39)	C1632Y	probably damaging	Het
Ago2	T	C	15: 72,991,310 (GRCm39)	M543V	probably benign	Het
Arpin	T	A	7: 79,581,553 (GRCm39)	K56*	probably null	Het
Ccdc138	G	T	10: 58,397,715 (GRCm39)		probably benign	Het
Ccdc63	A	T	5: 122,260,948 (GRCm39)	M192K	probably benign	Het
Cldn12	A	T	5: 5,557,845 (GRCm39)	V194D	possibly damaging	Het
Cntnap5b	T	C	1: 100,306,851 (GRCm39)	L485P	probably damaging	Het
Cpne7	A	G	8: 123,851,208 (GRCm39)	D165G	probably damaging	Het
Cyp2j6	A	T	4: 96,417,645 (GRCm39)	M326K	probably damaging	Het
D630003M21Rik	T	A	2: 158,042,931 (GRCm39)	T870S	probably damaging	Het
Dennd2c	A	G	3: 103,039,317 (GRCm39)	D155G	probably benign	Het
Dnah3	A	T	7: 119,645,011 (GRCm39)		probably null	Het
Dqx1	T	A	6: 83,036,068 (GRCm39)	C133*	probably null	Het
Fam234b	T	A	6: 135,208,722 (GRCm39)	V545E	probably damaging	Het
Flcn	T	C	11: 59,683,485 (GRCm39)	H564R	probably damaging	Het
Gsdmc4	T	A	15: 63,765,014 (GRCm39)	H348L	probably benign	Het
Gucy2c	G	T	6: 136,740,072 (GRCm39)	P252T	probably damaging	Het
Insl6	T	A	19: 29,302,645 (GRCm39)	E24V	possibly damaging	Het
Irx1	T	A	13: 72,108,167 (GRCm39)	T172S	probably damaging	Het
Mocos	C	T	18: 24,799,713 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,158,835 (GRCm39)	V837A	probably benign	Het
Nfatc2ip	T	C	7: 125,995,170 (GRCm39)	N126S	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Npepl1	T	C	2: 173,953,566 (GRCm39)	S166P	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or7d11	G	T	9: 19,966,384 (GRCm39)	A125D	probably damaging	Het
Otop2	T	G	11: 115,217,676 (GRCm39)	C171G	probably damaging	Het
Parpbp	C	A	10: 87,968,950 (GRCm39)		probably benign	Het
Pcdhb20	T	A	18: 37,637,563 (GRCm39)	S30T	probably benign	Het
Phkg1	A	T	5: 129,893,373 (GRCm39)	V359E	probably damaging	Het
Ppp2cb	A	G	8: 34,101,855 (GRCm39)	D131G	probably null	Het
Scn9a	A	G	2: 66,335,312 (GRCm39)	Y1226H	probably damaging	Het
Unc5b	A	G	10: 60,613,979 (GRCm39)	F290S	probably benign	Het
Vmn1r71	A	G	7: 10,481,846 (GRCm39)	F215L	probably benign	Het
Vmn2r101	T	C	17: 19,810,045 (GRCm39)	V277A	probably benign	Het
Vmn2r6	T	C	3: 64,463,773 (GRCm39)	S354G	probably benign	Het
Zfp292	A	T	4: 34,811,281 (GRCm39)	S588T	probably 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
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
R8775-TAIL: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

PCR Primer
(F):5'- GCTGTTCCCTAAGGATACCC -3'
(R):5'- TTCTCGTGAGGGTCATCACC -3'

Sequencing Primer
(F):5'- TGTTCCCTAAGGATACCCAAGGATG -3'
(R):5'- AGACTCACTCACTGGGACTAGTG -3'

Posted On

2014-10-30