Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Alpk1'

366801

Institutional Source

Beutler Lab

Gene Symbol

Alpk1

Ensembl Gene

ENSMUSG00000028028

Gene Name

alpha-kinase 1

Synonyms

8430410J10Rik

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127481241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 175 (N175K)

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: N175K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: N175K

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: ENSMUST00000159343

Predicted Effect

probably benign
Transcript: ENSMUST00000159720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160586

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198955
AA Change: N175K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: N175K

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,086,711 (GRCm39)	S570I	probably benign	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TATGCGAACACTGGCTTGGTG -3'
(R):5'- CCCAGTTTGTCAATCCTAGAAAC -3'

Sequencing Primer
(F):5'- GGCCACAAATGAGAGGATGTATC -3'
(R):5'- TATGCGGATGGTTGGAAC -3'

Posted On

2015-12-29