Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Alpk1'

298571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpk1

Ensembl Gene

ENSMUSG00000028028

Gene Name

alpha-kinase 1

Synonyms

8430410J10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127466970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1103 (L1103Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029662
AA Change: L1103Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: L1103Q

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

noncoding transcript
Transcript: ENSMUST00000160586

Predicted Effect

probably damaging
Transcript: ENSMUST00000198955
AA Change: L1103Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: L1103Q

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	probably damaging	Het

Other mutations in Alpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Alpk1	APN	3	127,474,692 (GRCm39)	missense	probably damaging	1.00
IGL00722:Alpk1	APN	3	127,473,862 (GRCm39)	missense	probably benign	0.00
IGL01066:Alpk1	APN	3	127,473,874 (GRCm39)	missense	probably benign	0.22
IGL01351:Alpk1	APN	3	127,466,011 (GRCm39)	missense	probably damaging	0.97
IGL01412:Alpk1	APN	3	127,473,621 (GRCm39)	missense	possibly damaging	0.60
IGL01469:Alpk1	APN	3	127,471,401 (GRCm39)	splice site	probably null
IGL01585:Alpk1	APN	3	127,473,462 (GRCm39)	missense	probably benign	0.01
IGL02308:Alpk1	APN	3	127,522,931 (GRCm39)	missense	probably damaging	0.99
IGL02325:Alpk1	APN	3	127,473,552 (GRCm39)	missense	probably benign	0.43
IGL02458:Alpk1	APN	3	127,474,968 (GRCm39)	critical splice donor site	probably null
IGL02717:Alpk1	APN	3	127,474,749 (GRCm39)	missense	possibly damaging	0.76
IGL02729:Alpk1	APN	3	127,474,721 (GRCm39)	missense	possibly damaging	0.87
IGL02832:Alpk1	APN	3	127,473,592 (GRCm39)	missense	possibly damaging	0.63
IGL02892:Alpk1	APN	3	127,473,771 (GRCm39)	missense	possibly damaging	0.92
IGL03178:Alpk1	APN	3	127,473,870 (GRCm39)	nonsense	probably null
R0427:Alpk1	UTSW	3	127,464,720 (GRCm39)	missense	probably damaging	1.00
R0981:Alpk1	UTSW	3	127,473,051 (GRCm39)	missense	possibly damaging	0.62
R1174:Alpk1	UTSW	3	127,474,459 (GRCm39)	missense	probably damaging	0.99
R1793:Alpk1	UTSW	3	127,471,447 (GRCm39)	missense	probably damaging	1.00
R1859:Alpk1	UTSW	3	127,474,749 (GRCm39)	missense	possibly damaging	0.76
R2173:Alpk1	UTSW	3	127,477,239 (GRCm39)	missense	probably damaging	1.00
R2235:Alpk1	UTSW	3	127,474,569 (GRCm39)	missense	probably benign	0.01
R2373:Alpk1	UTSW	3	127,473,457 (GRCm39)	missense	probably benign	0.00
R3803:Alpk1	UTSW	3	127,473,486 (GRCm39)	missense	possibly damaging	0.93
R3927:Alpk1	UTSW	3	127,471,365 (GRCm39)	missense	probably damaging	1.00
R4356:Alpk1	UTSW	3	127,523,022 (GRCm39)	missense	probably damaging	0.98
R4357:Alpk1	UTSW	3	127,523,022 (GRCm39)	missense	probably damaging	0.98
R4358:Alpk1	UTSW	3	127,523,022 (GRCm39)	missense	probably damaging	0.98
R4379:Alpk1	UTSW	3	127,523,022 (GRCm39)	missense	probably damaging	0.98
R4381:Alpk1	UTSW	3	127,523,022 (GRCm39)	missense	probably damaging	0.98
R4470:Alpk1	UTSW	3	127,473,175 (GRCm39)	missense	probably damaging	1.00
R4471:Alpk1	UTSW	3	127,473,175 (GRCm39)	missense	probably damaging	1.00
R4473:Alpk1	UTSW	3	127,473,667 (GRCm39)	missense	probably damaging	0.97
R4474:Alpk1	UTSW	3	127,473,667 (GRCm39)	missense	probably damaging	0.97
R4476:Alpk1	UTSW	3	127,473,667 (GRCm39)	missense	probably damaging	0.97
R4512:Alpk1	UTSW	3	127,478,120 (GRCm39)	intron	probably benign
R4594:Alpk1	UTSW	3	127,477,203 (GRCm39)	missense	probably damaging	1.00
R4678:Alpk1	UTSW	3	127,473,507 (GRCm39)	missense	probably damaging	0.99
R4707:Alpk1	UTSW	3	127,481,241 (GRCm39)	missense	possibly damaging	0.50
R4784:Alpk1	UTSW	3	127,481,241 (GRCm39)	missense	possibly damaging	0.50
R4785:Alpk1	UTSW	3	127,481,241 (GRCm39)	missense	possibly damaging	0.50
R4820:Alpk1	UTSW	3	127,464,708 (GRCm39)	missense	probably benign	0.06
R4887:Alpk1	UTSW	3	127,467,124 (GRCm39)	missense	probably damaging	1.00
R5088:Alpk1	UTSW	3	127,478,969 (GRCm39)	splice site	probably benign
R5169:Alpk1	UTSW	3	127,464,750 (GRCm39)	missense	probably damaging	1.00
R5280:Alpk1	UTSW	3	127,474,813 (GRCm39)	missense	probably benign	0.00
R5351:Alpk1	UTSW	3	127,522,941 (GRCm39)	missense	probably damaging	0.96
R5478:Alpk1	UTSW	3	127,471,368 (GRCm39)	missense	probably damaging	1.00
R5627:Alpk1	UTSW	3	127,474,296 (GRCm39)	missense	probably damaging	0.99
R5781:Alpk1	UTSW	3	127,473,684 (GRCm39)	missense	possibly damaging	0.92
R5842:Alpk1	UTSW	3	127,474,618 (GRCm39)	missense	probably damaging	1.00
R5847:Alpk1	UTSW	3	127,473,723 (GRCm39)	missense	probably benign	0.06
R5940:Alpk1	UTSW	3	127,464,595 (GRCm39)	missense	probably benign
R6187:Alpk1	UTSW	3	127,466,991 (GRCm39)	missense	probably damaging	1.00
R6306:Alpk1	UTSW	3	127,479,965 (GRCm39)	missense	probably damaging	1.00
R6414:Alpk1	UTSW	3	127,473,858 (GRCm39)	missense	probably benign
R6701:Alpk1	UTSW	3	127,522,985 (GRCm39)	missense	probably damaging	1.00
R6735:Alpk1	UTSW	3	127,518,098 (GRCm39)	missense	probably damaging	1.00
R6850:Alpk1	UTSW	3	127,523,012 (GRCm39)	missense	possibly damaging	0.87
R7173:Alpk1	UTSW	3	127,478,024 (GRCm39)	nonsense	probably null
R7258:Alpk1	UTSW	3	127,518,115 (GRCm39)	missense	probably damaging	1.00
R7412:Alpk1	UTSW	3	127,489,382 (GRCm39)	missense	probably damaging	1.00
R7412:Alpk1	UTSW	3	127,466,143 (GRCm39)	missense	probably damaging	1.00
R7498:Alpk1	UTSW	3	127,473,427 (GRCm39)	missense	probably benign	0.22
R7635:Alpk1	UTSW	3	127,489,310 (GRCm39)	missense	probably benign	0.01
R7660:Alpk1	UTSW	3	127,474,616 (GRCm39)	missense	probably damaging	1.00
R7682:Alpk1	UTSW	3	127,466,195 (GRCm39)	missense	possibly damaging	0.94
R7732:Alpk1	UTSW	3	127,478,041 (GRCm39)	missense
R7827:Alpk1	UTSW	3	127,473,700 (GRCm39)	missense	probably benign	0.00
R8029:Alpk1	UTSW	3	127,522,934 (GRCm39)	missense	possibly damaging	0.95
R8383:Alpk1	UTSW	3	127,518,085 (GRCm39)	missense	probably benign	0.41
R8478:Alpk1	UTSW	3	127,522,961 (GRCm39)	missense	probably damaging	1.00
R8765:Alpk1	UTSW	3	127,466,118 (GRCm39)	missense	probably damaging	1.00
R8816:Alpk1	UTSW	3	127,478,024 (GRCm39)	nonsense	probably null
R8907:Alpk1	UTSW	3	127,474,642 (GRCm39)	nonsense	probably null
R8972:Alpk1	UTSW	3	127,473,232 (GRCm39)	missense	probably damaging	1.00
R8974:Alpk1	UTSW	3	127,473,580 (GRCm39)	missense	probably benign	0.03
R9039:Alpk1	UTSW	3	127,473,192 (GRCm39)	missense	probably damaging	1.00
R9202:Alpk1	UTSW	3	127,479,938 (GRCm39)	missense
R9394:Alpk1	UTSW	3	127,466,187 (GRCm39)	missense	probably damaging	1.00
R9421:Alpk1	UTSW	3	127,467,069 (GRCm39)	missense	probably damaging	1.00
R9436:Alpk1	UTSW	3	127,478,924 (GRCm39)	missense
R9785:Alpk1	UTSW	3	127,473,594 (GRCm39)	missense	probably benign	0.22
Z1176:Alpk1	UTSW	3	127,467,087 (GRCm39)	missense	probably damaging	1.00
Z1177:Alpk1	UTSW	3	127,478,956 (GRCm39)	missense

Posted On

2015-04-16