Mutagenetix > Incidental Mutation

Incidental Mutation 'R9436:Alpk1'

713270

Institutional Source

Beutler Lab

Gene Symbol

Alpk1

Ensembl Gene

ENSMUSG00000028028

Gene Name

alpha-kinase 1

Synonyms

8430410J10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127478924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029662
AA Change: V221A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: V221A

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

possibly damaging
Transcript: ENSMUST00000198955
AA Change: V221A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: V221A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,909,975 (GRCm39)	T340A	probably benign	Het
Adamts2	G	T	11: 50,694,507 (GRCm39)	R1098L	probably benign	Het
Add1	A	T	5: 34,763,273 (GRCm39)	R154*	probably null	Het
Anapc1	T	C	2: 128,518,045 (GRCm39)	T270A	probably benign	Het
Ankhd1	C	A	18: 36,694,041 (GRCm39)	A84D	probably benign	Het
Ankhd1	T	A	18: 36,774,654 (GRCm39)	C1412S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Chrm5	T	C	2: 112,309,824 (GRCm39)	R431G	possibly damaging	Het
Clxn	T	A	16: 14,735,541 (GRCm39)	C84*	probably null	Het
Dnah14	A	C	1: 181,508,348 (GRCm39)	E1842A	probably damaging	Het
Dync1h1	T	C	12: 110,582,975 (GRCm39)	L386P	probably damaging	Het
Eme1	G	A	11: 94,538,507 (GRCm39)	Q393*	probably null	Het
Hinfp	A	T	9: 44,209,276 (GRCm39)	Y308N	probably damaging	Het
Hnrnph3	T	A	10: 62,854,627 (GRCm39)	R55*	probably null	Het
Ifi44	T	C	3: 151,454,886 (GRCm39)	D113G	probably benign	Het
Katnal1	A	T	5: 148,815,761 (GRCm39)	L392H	probably damaging	Het
Kcnk12	C	A	17: 88,104,880 (GRCm39)	M1I	probably null	Het
Krt17	T	A	11: 100,148,325 (GRCm39)	D372V	probably damaging	Het
Mrtfb	T	A	16: 13,223,151 (GRCm39)	Y796*	probably null	Het
Myo3a	T	A	2: 22,412,235 (GRCm39)	Y751*	probably null	Het
Ndrg3	C	A	2: 156,782,276 (GRCm39)		probably null	Het
Nfkbib	C	A	7: 28,465,800 (GRCm39)	W16C	probably damaging	Het
Nlrp14	T	C	7: 106,781,106 (GRCm39)	V101A	probably benign	Het
Npy5r	A	G	8: 67,133,483 (GRCm39)	S437P	probably damaging	Het
Or6c75	T	C	10: 129,336,969 (GRCm39)	F64S	probably damaging	Het
Pcdhga3	G	A	18: 37,808,144 (GRCm39)	R199H	probably damaging	Het
Pi4ka	T	A	16: 17,125,670 (GRCm39)	H1155L		Het
Rbp3	A	G	14: 33,677,234 (GRCm39)	D394G	possibly damaging	Het
Rnmt	T	A	18: 68,442,410 (GRCm39)	V180E	probably damaging	Het
Rpl3l	A	T	17: 24,947,300 (GRCm39)	K5*	probably null	Het
Rps6ka1	A	T	4: 133,575,963 (GRCm39)	V652E	probably damaging	Het
Slc7a1	A	T	5: 148,270,730 (GRCm39)	W579R	probably damaging	Het
Smr2l	A	G	5: 88,430,257 (GRCm39)	D51G	possibly damaging	Het
Smyd4	T	A	11: 75,293,017 (GRCm39)	L649Q	probably damaging	Het
Snx19	A	G	9: 30,374,602 (GRCm39)	R954G	possibly damaging	Het
Sp4	T	C	12: 118,202,000 (GRCm39)	E744G	possibly damaging	Het
Spag16	C	T	1: 69,892,539 (GRCm39)	L107F	probably damaging	Het
Stk36	A	G	1: 74,650,272 (GRCm39)	D268G	probably benign	Het
Tat	G	T	8: 110,718,492 (GRCm39)	G85W	probably damaging	Het
Tchp	G	T	5: 114,847,446 (GRCm39)	E88D	probably benign	Het
Tmem132b	A	G	5: 125,775,633 (GRCm39)	N369S	possibly damaging	Het
Tmf1	T	C	6: 97,153,617 (GRCm39)	D152G	probably benign	Het
Ttc7	T	C	17: 87,600,320 (GRCm39)	Y145H	possibly damaging	Het
Ttn	T	C	2: 76,772,263 (GRCm39)	I2592M	unknown	Het
Unc80	T	G	1: 66,732,964 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,002,826 (GRCm39)	Y79H	probably damaging	Het
Whamm	G	T	7: 81,221,063 (GRCm39)		probably benign	Het
Zfp184	A	G	13: 22,133,898 (GRCm39)	I48M	probably benign	Het
Zfp974	A	T	7: 27,611,094 (GRCm39)	F210L	probably benign	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
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
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'- GGATACACACAGTGGACCAG -3'
(R):5'- TGAGTCTTCCTAACAGGGTCC -3'

Sequencing Primer
(F):5'- GGTTAGAGATTATTACACAAGCCC -3'
(R):5'- GAGTCTTCCTAACAGGGTCCAATGAC -3'

Posted On

2022-05-16