Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Ak1'

537406

Institutional Source

Beutler Lab

Gene Symbol

Ak1

Ensembl Gene

ENSMUSG00000026817

Gene Name

adenylate kinase 1

Synonyms

B430205N08Rik, Ak-1

MMRRC Submission

044930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R6818 (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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ambp	G	T	4: 63,072,243 (GRCm39)	S17*	probably null	Het
Anxa6	T	A	11: 54,870,326 (GRCm39)	M662L	probably benign	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm973	T	C	1: 59,669,328 (GRCm39)	L793P	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Mest	T	A	6: 30,746,286 (GRCm39)	D284E	probably damaging	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Or4k38	T	G	2: 111,165,659 (GRCm39)	I255L	probably benign	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	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
R6458: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'- AGGGGCCACTCCAGTATTAATC -3'

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

Posted On

2018-10-18