Mutagenetix > Incidental Mutation

Incidental Mutation 'R9202:Alpk1'

698265

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 #

R9202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127479938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 17 (I17K)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029662
AA Change: I197K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: I197K

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 damaging
Transcript: ENSMUST00000198955
AA Change: I197K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: I197K

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: 99.4%

Validation Efficiency

95% (41/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd3	T	C	7: 110,402,346 (GRCm39)	I441T	probably damaging	Het
Ankrd31	C	T	13: 97,015,383 (GRCm39)	Q1551*	probably null	Het
Asphd1	T	A	7: 126,547,934 (GRCm39)	Y123F	probably damaging	Het
Atf2	A	G	2: 73,649,472 (GRCm39)	S380P	probably damaging	Het
Bltp1	A	G	3: 36,944,970 (GRCm39)	S310G	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep72	G	T	13: 74,198,420 (GRCm39)	T320K	probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Ctnna3	T	G	10: 64,708,947 (GRCm39)	M662R	probably damaging	Het
Cyp2r1	T	G	7: 114,152,047 (GRCm39)		probably benign	Het
Flvcr1	T	A	1: 190,744,351 (GRCm39)	Y399F	probably benign	Het
Gimap8	T	A	6: 48,633,403 (GRCm39)	F407L	probably benign	Het
Insrr	C	T	3: 87,720,427 (GRCm39)	R1022W	probably damaging	Het
Ipo4	A	T	14: 55,868,597 (GRCm39)		probably null	Het
Klhl35	A	G	7: 99,120,212 (GRCm39)	N363S	probably benign	Het
Loxl4	T	C	19: 42,593,452 (GRCm39)	T240A	probably benign	Het
Med23	T	C	10: 24,780,202 (GRCm39)	V950A	probably benign	Het
Nceh1	A	G	3: 27,333,428 (GRCm39)	I175V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or5ac24	T	C	16: 59,165,618 (GRCm39)	I149V	probably benign	Het
Or5m5	T	A	2: 85,814,801 (GRCm39)	F206I	probably damaging	Het
Osbpl5	T	C	7: 143,254,498 (GRCm39)	D515G	probably benign	Het
Pafah2	T	C	4: 134,131,440 (GRCm39)	S68P	probably benign	Het
Pcnx2	T	A	8: 126,616,416 (GRCm39)		probably null	Het
Pde11a	G	T	2: 75,853,077 (GRCm39)	S847*	probably null	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel19	A	G	4: 101,797,860 (GRCm39)	D86G	probably damaging	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Ripk2	C	A	4: 16,124,502 (GRCm39)	G402V	probably benign	Het
Speg	T	C	1: 75,367,637 (GRCm39)	S715P	probably damaging	Het
Ttll12	A	G	15: 83,466,264 (GRCm39)	F399S	probably damaging	Het
Ugt1a2	G	T	1: 88,128,375 (GRCm39)	C6F	probably benign	Het
Vars2	T	C	17: 35,977,551 (GRCm39)	Y127C	probably damaging	Het
Vars2	T	C	17: 35,974,444 (GRCm39)		probably null	Het
Vmn2r95	T	C	17: 18,644,394 (GRCm39)	F10S	probably benign	Het
Wdr12	T	C	1: 60,121,205 (GRCm39)	D371G	possibly damaging	Het
Wdr89	C	T	12: 75,679,943 (GRCm39)	E104K	probably benign	Het
Zbtb1	G	T	12: 76,433,784 (GRCm39)	R590L	probably damaging	Het
Zfhx3	A	G	8: 109,677,920 (GRCm39)	D2990G	possibly damaging	Het
Zfp710	G	A	7: 79,731,609 (GRCm39)	G262D	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
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
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'- GCTCCAGGTATCTAATGTCATTTTC -3'
(R):5'- ATGGAAGCCATCTCCTGTGG -3'

Sequencing Primer
(F):5'- CTTCTCAAGAGGACTACTATGGG -3'
(R):5'- AGTCATGGGGAATAGAGCTGTCTC -3'

Posted On

2022-02-07