Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01412:Alpk1'

80054

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 #

IGL01412

Quality Score

Status

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127473621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 794 (L794Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029662
AA Change: L794Q

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: L794Q

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 benign
Transcript: ENSMUST00000159720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160586

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198955
AA Change: L794Q

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: L794Q

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
6030458C11Rik	G	A	15: 12,815,958 (GRCm39)	Q222*	probably null	Het
Adamts2	A	G	11: 50,686,230 (GRCm39)	E1016G	probably benign	Het
Agmo	G	A	12: 37,452,140 (GRCm39)	E269K	possibly damaging	Het
Agrn	A	T	4: 156,255,491 (GRCm39)		probably benign	Het
Asb14	T	A	14: 26,637,022 (GRCm39)	L588H	probably damaging	Het
Btbd16	A	T	7: 130,407,549 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,610,924 (GRCm39)	K625E	probably benign	Het
Cdh23	T	C	10: 60,150,473 (GRCm39)	D2499G	probably damaging	Het
Cdhr2	A	T	13: 54,873,707 (GRCm39)	D687V	probably damaging	Het
Cops8	G	T	1: 90,532,153 (GRCm39)	L45F	possibly damaging	Het
D130043K22Rik	A	G	13: 25,071,843 (GRCm39)	H929R	probably damaging	Het
Dnah12	A	G	14: 26,492,962 (GRCm39)	E1241G	probably damaging	Het
Dock4	T	A	12: 40,780,040 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,380,518 (GRCm39)	I8V	probably benign	Het
Dst	T	C	1: 34,281,701 (GRCm39)	V5435A	probably benign	Het
Fat4	A	G	3: 38,945,330 (GRCm39)	I1408V	probably benign	Het
Fhit	G	T	14: 9,870,065 (GRCm38)	H72N	probably damaging	Het
Foxp2	C	A	6: 15,376,757 (GRCm39)		probably benign	Het
Fpgt	T	C	3: 154,792,359 (GRCm39)	Q556R	probably benign	Het
Galntl6	T	A	8: 58,230,328 (GRCm39)	E30V	probably damaging	Het
Gemin4	A	T	11: 76,104,311 (GRCm39)	V150D	probably benign	Het
Grm8	C	T	6: 27,762,460 (GRCm39)	R255H	probably damaging	Het
Hapln3	G	A	7: 78,767,184 (GRCm39)		probably null	Het
Htt	T	A	5: 35,055,916 (GRCm39)	L2609Q	probably damaging	Het
Igdcc4	A	G	9: 65,021,731 (GRCm39)		probably benign	Het
Isx	T	C	8: 75,619,306 (GRCm39)	L166P	probably benign	Het
Kcnt2	G	A	1: 140,498,155 (GRCm39)	M884I	probably benign	Het
Leo1	A	G	9: 75,373,524 (GRCm39)	N650D	probably benign	Het
Man1a	A	G	10: 53,950,810 (GRCm39)	V195A	probably benign	Het
Map2k5	A	T	9: 63,200,988 (GRCm39)	I215N	probably damaging	Het
Mier2	A	G	10: 79,377,014 (GRCm39)	*542R	probably null	Het
Mrgbp	T	A	2: 180,225,209 (GRCm39)	F55Y	probably damaging	Het
Nadsyn1	A	T	7: 143,362,527 (GRCm39)		probably null	Het
Nedd9	A	T	13: 41,469,262 (GRCm39)	Y630*	probably null	Het
Nrp1	T	C	8: 129,145,188 (GRCm39)		probably benign	Het
Or4k15b	A	G	14: 50,272,770 (GRCm39)	I30T	probably benign	Het
Or51q1c	T	A	7: 103,652,842 (GRCm39)	M120K	probably damaging	Het
Or52z12	A	G	7: 103,234,114 (GRCm39)	N295S	probably damaging	Het
Or5w17	A	T	2: 87,583,461 (GRCm39)	L292Q	probably damaging	Het
Or7g21	T	A	9: 19,032,895 (GRCm39)	C212S	probably benign	Het
Pcnx1	A	T	12: 81,953,239 (GRCm39)	I127F	probably damaging	Het
Pik3ap1	T	C	19: 41,364,329 (GRCm39)	E130G	possibly damaging	Het
Pkd1l1	G	T	11: 8,900,409 (GRCm39)	T44N	possibly damaging	Het
Polr1c	A	G	17: 46,555,135 (GRCm39)	S226P	probably damaging	Het
Pramel28	A	C	4: 143,691,565 (GRCm39)	V386G	probably damaging	Het
Prep	A	G	10: 45,029,208 (GRCm39)	Y536C	probably damaging	Het
Ptprb	A	G	10: 116,179,820 (GRCm39)	T1413A	probably benign	Het
Pwwp3a	T	A	10: 80,070,163 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,756,922 (GRCm39)	K1577N	probably benign	Het
Selplg	G	T	5: 113,957,529 (GRCm39)	T33K	probably damaging	Het
Slc26a5	T	A	5: 22,020,734 (GRCm39)	I505L	probably damaging	Het
Slc39a6	T	C	18: 24,718,413 (GRCm39)	N548S	probably damaging	Het
Sp7	T	C	15: 102,267,798 (GRCm39)	T3A	possibly damaging	Het
Tango6	T	C	8: 107,545,131 (GRCm39)	V998A	probably benign	Het
Tas2r130	A	T	6: 131,607,473 (GRCm39)	Y107*	probably null	Het
Tjp2	T	C	19: 24,078,139 (GRCm39)	E918G	probably damaging	Het
Trim12a	C	T	7: 103,956,202 (GRCm39)	A113T	probably benign	Het
Zan	T	A	5: 137,391,294 (GRCm39)	D4730V	unknown	Het
Zfp607a	A	T	7: 27,578,109 (GRCm39)	D393V	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
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
IGL02553:Alpk1	APN	3	127,466,970 (GRCm39)	missense	probably damaging	1.00
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

2013-11-05