Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Alpk3'

296844

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

80707348-80755360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80727643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 258 (S258P)

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: S258P

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

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: S258P

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	G	4: 49,380,647 (GRCm39)	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639 (GRCm39)	C228*	probably null	Het
Adam24	T	C	8: 41,133,218 (GRCm39)	S229P	probably damaging	Het
Atad2b	A	G	12: 5,068,037 (GRCm39)	T1012A	probably benign	Het
Bltp1	A	G	3: 37,013,017 (GRCm39)	E1899G	probably damaging	Het
C4b	A	T	17: 34,953,382 (GRCm39)	S1034T	probably benign	Het
Cd300ld2	T	A	11: 114,901,249 (GRCm39)	H277L	possibly damaging	Het
Chrna4	C	T	2: 180,670,926 (GRCm39)	V277I	probably benign	Het
Col3a1	A	G	1: 45,364,963 (GRCm39)		probably null	Het
Dpep2	C	T	8: 106,715,388 (GRCm39)	V369M	probably damaging	Het
Eml2	T	A	7: 18,940,055 (GRCm39)	N815K	probably damaging	Het
Enpp3	A	G	10: 24,685,746 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,390,413 (GRCm39)	V86A	probably benign	Het
Hivep2	C	T	10: 14,006,926 (GRCm39)	P1175S	probably benign	Het
Hydin	T	C	8: 111,293,604 (GRCm39)	I3517T	probably benign	Het
Ift172	T	A	5: 31,410,992 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,589,316 (GRCm39)	I647T	probably benign	Het
Kifap3	T	A	1: 163,653,440 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,670,915 (GRCm39)		probably null	Het
Lipa	A	C	19: 34,471,522 (GRCm39)	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,832,091 (GRCm39)	A1631D	probably benign	Het
Masp2	A	G	4: 148,698,477 (GRCm39)	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,702,436 (GRCm39)		probably benign	Het
Numa1	T	G	7: 101,661,216 (GRCm39)	D1846E	probably benign	Het
Oog3	A	T	4: 143,885,920 (GRCm39)	I226K	probably damaging	Het
Or11h6	A	G	14: 50,880,658 (GRCm39)	T301A	probably benign	Het
Or5an6	A	T	19: 12,372,265 (GRCm39)	I213F	probably benign	Het
Or8b3b	T	C	9: 38,584,209 (GRCm39)	Y177C	probably damaging	Het
Or8g53	T	G	9: 39,683,800 (GRCm39)	T99P	probably damaging	Het
Or9s13	A	T	1: 92,548,183 (GRCm39)	Y185F	probably benign	Het
Pkdcc	T	C	17: 83,531,295 (GRCm39)	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,365,425 (GRCm39)	Y70H	probably damaging	Het
Prcc	C	T	3: 87,776,984 (GRCm39)	S330N	probably damaging	Het
Ror2	A	T	13: 53,272,876 (GRCm39)	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,621,464 (GRCm39)	L651P	probably damaging	Het
Skint6	A	T	4: 112,805,737 (GRCm39)		probably benign	Het
Slc23a4	A	G	6: 34,931,917 (GRCm39)	F186L	probably benign	Het
Slc30a8	A	T	15: 52,198,530 (GRCm39)	D325V	probably benign	Het
Son	C	T	16: 91,452,099 (GRCm39)	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,891 (GRCm39)	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,606,966 (GRCm39)	S447P	probably benign	Het
Thsd1	T	A	8: 22,733,454 (GRCm39)	V167E	probably damaging	Het
Tle3	T	C	9: 61,322,063 (GRCm39)	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463 (GRCm39)	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,413,466 (GRCm39)	V202G	probably benign	Het
Trim6	T	C	7: 103,881,564 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,721,535 (GRCm39)		probably benign	Het
Ubr1	A	C	2: 120,694,854 (GRCm39)	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,648,195 (GRCm39)	R4600H	probably damaging	Het
Vil1	A	G	1: 74,465,851 (GRCm39)	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,347,266 (GRCm39)	I152L	probably benign	Het
Vmn1r26	A	G	6: 57,986,127 (GRCm39)	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,185 (GRCm39)	K368*	probably null	Het
Vmn2r68	C	T	7: 84,871,153 (GRCm39)	W710*	probably null	Het
Zfp808	T	A	13: 62,321,032 (GRCm39)	*754R	probably null	Het
Zyg11b	C	T	4: 108,123,515 (GRCm39)	E151K	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
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
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

Posted On

2015-04-16