Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02458:Alpk1'

294515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpk1

Ensembl Gene

ENSMUSG00000028028

Gene Name

alpha-kinase 1

Synonyms

8430410J10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

127670310-127780527 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 127681319 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029662] [ENSMUST00000198955]

Predicted Effect

probably benign
Transcript: ENSMUST00000029662
AA Change: V345A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: V345A

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
low complexity region	618	628	N/A	INTRINSIC
low complexity region	700	714	N/A	INTRINSIC
low complexity region	902	914	N/A	INTRINSIC
low complexity region	924	947	N/A	INTRINSIC
Alpha_kinase	1008	1215	1.03e-81	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160586

Predicted Effect

probably benign
Transcript: ENSMUST00000198955
AA Change: V345A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: V345A

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
low complexity region	618	628	N/A	INTRINSIC
low complexity region	700	714	N/A	INTRINSIC
low complexity region	902	914	N/A	INTRINSIC
low complexity region	924	947	N/A	INTRINSIC
Alpha_kinase	1008	1215	1.03e-81	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Alpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Alpk1	APN	3	127681043	missense	probably damaging	1.00
IGL00722:Alpk1	APN	3	127680213	missense	probably benign	0.00
IGL01066:Alpk1	APN	3	127680225	missense	probably benign	0.22
IGL01351:Alpk1	APN	3	127672362	missense	probably damaging	0.97
IGL01412:Alpk1	APN	3	127679972	missense	possibly damaging	0.60
IGL01469:Alpk1	APN	3	127677752	splice site	probably null
IGL01585:Alpk1	APN	3	127679813	missense	probably benign	0.01
IGL02308:Alpk1	APN	3	127729282	missense	probably damaging	0.99
IGL02325:Alpk1	APN	3	127679903	missense	probably benign	0.43
IGL02553:Alpk1	APN	3	127673321	missense	probably damaging	1.00
IGL02717:Alpk1	APN	3	127681100	missense	possibly damaging	0.76
IGL02729:Alpk1	APN	3	127681072	missense	possibly damaging	0.87
IGL02832:Alpk1	APN	3	127679943	missense	possibly damaging	0.63
IGL02892:Alpk1	APN	3	127680122	missense	possibly damaging	0.92
IGL03178:Alpk1	APN	3	127680221	nonsense	probably null
R0427:Alpk1	UTSW	3	127671071	missense	probably damaging	1.00
R0981:Alpk1	UTSW	3	127679402	missense	possibly damaging	0.62
R1174:Alpk1	UTSW	3	127680810	missense	probably damaging	0.99
R1793:Alpk1	UTSW	3	127677798	missense	probably damaging	1.00
R1859:Alpk1	UTSW	3	127681100	missense	possibly damaging	0.76
R2173:Alpk1	UTSW	3	127683590	missense	probably damaging	1.00
R2235:Alpk1	UTSW	3	127680920	missense	probably benign	0.01
R2373:Alpk1	UTSW	3	127679808	missense	probably benign	0.00
R3803:Alpk1	UTSW	3	127679837	missense	possibly damaging	0.93
R3927:Alpk1	UTSW	3	127677716	missense	probably damaging	1.00
R4356:Alpk1	UTSW	3	127729373	missense	probably damaging	0.98
R4357:Alpk1	UTSW	3	127729373	missense	probably damaging	0.98
R4358:Alpk1	UTSW	3	127729373	missense	probably damaging	0.98
R4379:Alpk1	UTSW	3	127729373	missense	probably damaging	0.98
R4381:Alpk1	UTSW	3	127729373	missense	probably damaging	0.98
R4470:Alpk1	UTSW	3	127679526	missense	probably damaging	1.00
R4471:Alpk1	UTSW	3	127679526	missense	probably damaging	1.00
R4473:Alpk1	UTSW	3	127680018	missense	probably damaging	0.97
R4474:Alpk1	UTSW	3	127680018	missense	probably damaging	0.97
R4476:Alpk1	UTSW	3	127680018	missense	probably damaging	0.97
R4512:Alpk1	UTSW	3	127684471	intron	probably benign
R4594:Alpk1	UTSW	3	127683554	missense	probably damaging	1.00
R4678:Alpk1	UTSW	3	127679858	missense	probably damaging	0.99
R4707:Alpk1	UTSW	3	127687592	missense	possibly damaging	0.50
R4784:Alpk1	UTSW	3	127687592	missense	possibly damaging	0.50
R4785:Alpk1	UTSW	3	127687592	missense	possibly damaging	0.50
R4820:Alpk1	UTSW	3	127671059	missense	probably benign	0.06
R4887:Alpk1	UTSW	3	127673475	missense	probably damaging	1.00
R5088:Alpk1	UTSW	3	127685320	splice site	probably benign
R5169:Alpk1	UTSW	3	127671101	missense	probably damaging	1.00
R5280:Alpk1	UTSW	3	127681164	missense	probably benign	0.00
R5351:Alpk1	UTSW	3	127729292	missense	probably damaging	0.96
R5478:Alpk1	UTSW	3	127677719	missense	probably damaging	1.00
R5627:Alpk1	UTSW	3	127680647	missense	probably damaging	0.99
R5781:Alpk1	UTSW	3	127680035	missense	possibly damaging	0.92
R5842:Alpk1	UTSW	3	127680969	missense	probably damaging	1.00
R5847:Alpk1	UTSW	3	127680074	missense	probably benign	0.06
R5940:Alpk1	UTSW	3	127670946	missense	probably benign
R6187:Alpk1	UTSW	3	127673342	missense	probably damaging	1.00
R6306:Alpk1	UTSW	3	127686316	missense	probably damaging	1.00
R6414:Alpk1	UTSW	3	127680209	missense	probably benign
R6701:Alpk1	UTSW	3	127729336	missense	probably damaging	1.00
R6735:Alpk1	UTSW	3	127724449	missense	probably damaging	1.00
R6850:Alpk1	UTSW	3	127729363	missense	possibly damaging	0.87
R7173:Alpk1	UTSW	3	127684375	nonsense	probably null
R7258:Alpk1	UTSW	3	127724466	missense	probably damaging	1.00
R7412:Alpk1	UTSW	3	127672494	missense	probably damaging	1.00
R7412:Alpk1	UTSW	3	127695733	missense	probably damaging	1.00
R7498:Alpk1	UTSW	3	127679778	missense	probably benign	0.22
R7635:Alpk1	UTSW	3	127695661	missense	probably benign	0.01
R7660:Alpk1	UTSW	3	127680967	missense	probably damaging	1.00
R7682:Alpk1	UTSW	3	127672546	missense	possibly damaging	0.94
R7732:Alpk1	UTSW	3	127684392	missense
R7827:Alpk1	UTSW	3	127680051	missense	probably benign	0.00
R8029:Alpk1	UTSW	3	127729285	missense	possibly damaging	0.95
R8383:Alpk1	UTSW	3	127724436	missense	probably benign	0.41
Z1176:Alpk1	UTSW	3	127673438	missense	probably damaging	1.00
Z1177:Alpk1	UTSW	3	127685307	missense

Posted On

2015-04-16