Mutagenetix > Incidental Mutation

Incidental Mutation 'R5280:Alpk1'

404156

Institutional Source

Beutler Lab

Gene Symbol

Alpk1

Ensembl Gene

ENSMUSG00000028028

Gene Name

alpha-kinase 1

Synonyms

8430410J10Rik

MMRRC Submission

042840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127463959-127574176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127474813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 397 (T397A)

Ref Sequence

ENSEMBL: ENSMUSP00000143223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029662
AA Change: T397A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: T397A

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

probably benign
Transcript: ENSMUST00000198955
AA Change: T397A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: T397A

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	C	T	17: 43,737,225 (GRCm39)	T218I	probably damaging	Het
Adgrv1	C	A	13: 81,545,584 (GRCm39)	S5567I	possibly damaging	Het
Atp9a	T	A	2: 168,481,908 (GRCm39)	Y880F	possibly damaging	Het
Celsr1	T	C	15: 85,814,747 (GRCm39)	T1905A	probably benign	Het
Chd8	G	A	14: 52,442,582 (GRCm39)	A656V	possibly damaging	Het
Dffa	A	G	4: 149,202,391 (GRCm39)	N265S	probably benign	Het
Frrs1	A	G	3: 116,674,545 (GRCm39)	D109G	probably benign	Het
Gm20821	A	T	Y: 9,783,963 (GRCm39)	K195M	probably damaging	Het
Ifi207	A	T	1: 173,557,870 (GRCm39)	N289K	unknown	Het
Kank1	T	C	19: 25,388,669 (GRCm39)	F781L	probably benign	Het
Lrba	A	T	3: 86,232,329 (GRCm39)	M759L	possibly damaging	Het
Lrp8	A	G	4: 107,711,518 (GRCm39)	Y307C	probably damaging	Het
Neb	T	C	2: 52,037,168 (GRCm39)	H6847R	probably damaging	Het
Or2ag19	G	A	7: 106,443,902 (GRCm39)	C28Y	probably benign	Het
Or52ab4	T	C	7: 102,987,708 (GRCm39)	V149A	probably benign	Het
Pcdha5	C	A	18: 37,094,755 (GRCm39)	Y421*	probably null	Het
Pclo	T	A	5: 14,590,731 (GRCm39)	D1010E	unknown	Het
Pld2	A	T	11: 70,443,585 (GRCm39)	D449V	probably damaging	Het
Ppfia1	C	A	7: 144,038,832 (GRCm39)	M1032I	possibly damaging	Het
Prickle2	C	A	6: 92,353,191 (GRCm39)	L758F	probably damaging	Het
Sarm1	A	G	11: 78,374,302 (GRCm39)	V564A	probably damaging	Het
Taf1b	C	A	12: 24,599,437 (GRCm39)	F398L	probably benign	Het
Tll2	A	G	19: 41,105,696 (GRCm39)	I361T	possibly damaging	Het
Tmem260	T	C	14: 48,742,716 (GRCm39)	V517A	probably benign	Het
Usp24	A	G	4: 106,198,411 (GRCm39)	K106E	probably benign	Het
Vcan	C	A	13: 89,838,405 (GRCm39)	V2380F	probably benign	Het
Vmn2r65	A	G	7: 84,595,542 (GRCm39)	S381P	probably damaging	Het
Vmn2r73	T	C	7: 85,507,155 (GRCm39)	D719G	probably damaging	Het
Wdr5b	T	C	16: 35,862,202 (GRCm39)	V107A	probably benign	Het
Wdr7	G	T	18: 64,120,383 (GRCm39)	V1475F	probably benign	Het
Ythdc2	A	G	18: 44,993,688 (GRCm39)	D911G	probably damaging	Het
Zbtb32	T	A	7: 30,289,629 (GRCm39)	E11V	probably damaging	Het
Zfp563	T	G	17: 33,323,812 (GRCm39)	Y136D	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
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'- ACCTCACACACTGAAGTATGGTG -3'
(R):5'- TCCTGACCAAGAAAGATGGCG -3'

Sequencing Primer
(F):5'- CACACTGAAGTATGGTGCTGGG -3'
(R):5'- CGAGCTGGTTAGTGGCAAGC -3'

Posted On

2016-07-22