Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Ak1'

517413

Institutional Source

Beutler Lab

Gene Symbol

Ak1

Ensembl Gene

ENSMUSG00000026817

Gene Name

adenylate kinase 1

Synonyms

B430205N08Rik, Ak-1

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32511770-32525070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32520385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 61 (M61K)

Ref Sequence

ENSEMBL: ENSMUSP00000123534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]

AlphaFold

Q9R0Y5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068271
AA Change: M77K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: M77K

Domain	Start	End	E-Value	Type
Pfam:AAA_33	26	173	2.7e-10	PFAM
Pfam:AAA_17	26	194	5.4e-8	PFAM
Pfam:ADK	29	185	1.3e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113277
AA Change: M61K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817
AA Change: M61K

Domain	Start	End	E-Value	Type
Pfam:AAA_33	10	159	2.7e-10	PFAM
Pfam:AAA_17	10	171	5.4e-11	PFAM
Pfam:AAA_18	11	149	7.6e-8	PFAM
Pfam:ADK	13	169	7.5e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113278
AA Change: M61K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
AA Change: M61K

Domain	Start	End	E-Value	Type
Pfam:AAA_33	10	159	2.7e-10	PFAM
Pfam:AAA_17	10	171	5.4e-11	PFAM
Pfam:AAA_18	11	149	7.6e-8	PFAM
Pfam:ADK	13	169	7.5e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135392

Predicted Effect

probably damaging
Transcript: ENSMUST00000156578
AA Change: M61K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817
AA Change: M61K

Domain	Start	End	E-Value	Type
Pfam:AAA_17	10	86	1.5e-10	PFAM
Pfam:ADK	13	89	3.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195721
AA Change: M56K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817
AA Change: M56K

Domain	Start	End	E-Value	Type
Pfam:ADK	13	96	2e-32	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,350,089 (GRCm39)	I374N	probably damaging	Het
Gadl1	T	A	9: 115,870,070 (GRCm39)	*479K	probably null	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,730,108 (GRCm39)	T333A	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Srek1	A	T	13: 103,880,076 (GRCm39)	V494E	probably benign	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	probably damaging	Het

Other mutations in Ak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Ak1	APN	2	32,523,507 (GRCm39)	unclassified	probably benign
R1472:Ak1	UTSW	2	32,520,313 (GRCm39)	missense	probably damaging	1.00
R1476:Ak1	UTSW	2	32,523,478 (GRCm39)	missense	probably benign
R1876:Ak1	UTSW	2	32,520,282 (GRCm39)	missense	probably damaging	0.99
R2004:Ak1	UTSW	2	32,519,622 (GRCm39)	missense	probably benign
R4067:Ak1	UTSW	2	32,519,593 (GRCm39)	missense	probably benign	0.05
R4246:Ak1	UTSW	2	32,523,384 (GRCm39)	missense	possibly damaging	0.54
R4873:Ak1	UTSW	2	32,521,189 (GRCm39)	missense	probably benign	0.28
R4875:Ak1	UTSW	2	32,521,189 (GRCm39)	missense	probably benign	0.28
R5076:Ak1	UTSW	2	32,523,460 (GRCm39)	missense	probably damaging	1.00
R6187:Ak1	UTSW	2	32,523,489 (GRCm39)	missense	probably damaging	0.99
R6818:Ak1	UTSW	2	32,520,385 (GRCm39)	missense	probably damaging	1.00
R6917:Ak1	UTSW	2	32,521,164 (GRCm39)	missense	possibly damaging	0.86
R6919:Ak1	UTSW	2	32,521,134 (GRCm39)	missense	possibly damaging	0.62
R8238:Ak1	UTSW	2	32,523,681 (GRCm39)	missense	probably damaging	1.00
R8803:Ak1	UTSW	2	32,523,490 (GRCm39)	missense	probably benign	0.28
R9135:Ak1	UTSW	2	32,521,182 (GRCm39)	missense	probably damaging	1.00
R9193:Ak1	UTSW	2	32,520,391 (GRCm39)	missense	probably benign	0.04
R9395:Ak1	UTSW	2	32,523,708 (GRCm39)	missense	probably damaging	1.00
Z1088:Ak1	UTSW	2	32,520,283 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCATTGAGGACCGTGGTG -3'
(R):5'- AGTAACTGAAGGGGCCACTC -3'

Sequencing Primer
(F):5'- CCGTGGTGGTGTCTGCC -3'
(R):5'- TGGAGAATGGCTGACCC -3'

Posted On

2018-05-21