Mutagenetix > Incidental Mutation

Incidental Mutation 'R6517:Alpk3'

520799

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

044644-MU

Accession Numbers

Essential gene?

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

Stock #

R6517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80707348-80755360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80728327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 486 (S486T)

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: S486T

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: S486T

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	T	14: 29,704,673 (GRCm39)	Q58*	probably null	Het
Adamts20	A	C	15: 94,180,985 (GRCm39)		probably null	Het
Cep162	T	A	9: 87,104,227 (GRCm39)	E553V	probably damaging	Het
Epha5	T	C	5: 84,304,360 (GRCm39)	I370V	possibly damaging	Het
Ets1	A	T	9: 32,664,093 (GRCm39)		probably null	Het
Fbxo38	C	T	18: 62,666,634 (GRCm39)	E180K	probably damaging	Het
Fscn1	A	G	5: 142,957,741 (GRCm39)	D296G	probably damaging	Het
Glul	A	G	1: 153,783,779 (GRCm39)	I325V	probably benign	Het
Keg1	A	G	19: 12,693,274 (GRCm39)	D99G	probably benign	Het
Krt1	A	T	15: 101,758,702 (GRCm39)	V154D	possibly damaging	Het
Mdfic	T	A	6: 15,770,324 (GRCm39)	I110N	probably damaging	Het
Myo1g	T	C	11: 6,462,509 (GRCm39)	N541D	probably damaging	Het
Nos3	T	A	5: 24,588,622 (GRCm39)	V1116D	probably damaging	Het
Or8h8	A	G	2: 86,753,441 (GRCm39)	I145T	probably benign	Het
Piwil2	G	T	14: 70,611,785 (GRCm39)	Q954K	probably benign	Het
Ppm1l	T	C	3: 69,224,916 (GRCm39)	M6T	probably damaging	Het
Scn3a	T	A	2: 65,327,907 (GRCm39)	E861V	possibly damaging	Het
Senp2	C	T	16: 21,845,474 (GRCm39)	T236M	possibly damaging	Het
Sgo2b	A	T	8: 64,384,528 (GRCm39)	V156D	probably damaging	Het
Sis	T	C	3: 72,814,475 (GRCm39)	Y1585C	probably damaging	Het
Slc22a22	A	G	15: 57,114,365 (GRCm39)	S321P	probably benign	Het
Slu7	T	A	11: 43,328,975 (GRCm39)	Y66N	probably damaging	Het
Stra6l	A	G	4: 45,879,473 (GRCm39)	H365R	probably benign	Het
Stt3b	T	C	9: 115,096,410 (GRCm39)	T246A	probably benign	Het
Taf1c	T	G	8: 120,330,986 (GRCm39)	N44T	possibly damaging	Het
Tcirg1	C	T	19: 3,951,933 (GRCm39)	V376M	probably damaging	Het
Tkt	A	G	14: 30,271,280 (GRCm39)	D17G	probably damaging	Het
Tle6	G	A	10: 81,427,810 (GRCm39)	H482Y	probably damaging	Het
Tnks1bp1	T	C	2: 84,889,689 (GRCm39)	V672A	probably benign	Het
Zdbf2	T	G	1: 63,344,679 (GRCm39)	D1019E	possibly damaging	Het
Zfp608	A	T	18: 55,032,150 (GRCm39)	C597S	possibly damaging	Het
Zfp986	G	C	4: 145,625,870 (GRCm39)	D177H	probably benign	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
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'- CATTCAAGACAAGGTCCAGGATG -3'
(R):5'- TGTCCTTGCAAGGGGCTATC -3'

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

Posted On

2018-06-06