Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01407:Ak1'

79858

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ak1

Ensembl Gene

ENSMUSG00000026817

Gene Name

adenylate kinase 1

Synonyms

Ak-1, B430205N08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

32621758-32635058 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 32633495 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142174 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068271

SMART Domains

Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000113277

SMART Domains

Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000113278

SMART Domains

Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000156578

SMART Domains

Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000195721

SMART Domains

Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817

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

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,245,944	D1140V	probably damaging	Het
Ano1	A	T	7: 144,637,111	L411H	probably benign	Het
Atad2	A	T	15: 58,104,525	N569K	probably benign	Het
Bst2	C	A	8: 71,537,186	R81L	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Chrna5	C	T	9: 55,004,399	T57M	possibly damaging	Het
Cp	A	T	3: 19,977,205	D602V	possibly damaging	Het
Drd2	T	C	9: 49,400,815	I156T	probably damaging	Het
Elp4	G	A	2: 105,792,308	R349W	probably damaging	Het
Eml6	G	A	11: 29,755,021	R1508*	probably null	Het
Etl4	T	C	2: 20,743,856	L335S	probably damaging	Het
Fat3	A	T	9: 16,378,023	I68K	probably benign	Het
Fyco1	G	T	9: 123,828,879	A744D	probably damaging	Het
Gm22165	G	T	3: 64,105,465		probably benign	Het
Gse1	T	C	8: 120,553,587	M1T	probably null	Het
Hs3st5	A	T	10: 36,833,408	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,062,905	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,407	S93I	probably benign	Het
Itgb1	T	C	8: 128,722,834	V578A	probably benign	Het
Klf12	A	T	14: 100,109,858	N12K	possibly damaging	Het
Krt40	C	T	11: 99,541,219	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,937,227	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,947,903	Y213C	probably damaging	Het
Mitf	C	A	6: 98,017,931	T277K	possibly damaging	Het
Ncan	C	T	8: 70,101,957	R1070H	probably benign	Het
Nr4a3	A	G	4: 48,083,201	E578G	probably benign	Het
Patj	A	G	4: 98,413,050	T191A	possibly damaging	Het
Pign	A	G	1: 105,589,302	V533A	probably benign	Het
Smad5	G	A	13: 56,735,817	V339I	probably benign	Het
Spem2	T	A	11: 69,817,239	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,364,722	S605A	probably damaging	Het
Treml4	T	A	17: 48,264,849	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,416,503	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,329,867	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,042,166	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,584,187	K10I	probably benign	Het

Other mutations in Ak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1472:Ak1	UTSW	2	32630301	missense	probably damaging	1.00
R1476:Ak1	UTSW	2	32633466	missense	probably benign
R1876:Ak1	UTSW	2	32630270	missense	probably damaging	0.99
R2004:Ak1	UTSW	2	32629610	missense	probably benign
R4067:Ak1	UTSW	2	32629581	missense	probably benign	0.05
R4246:Ak1	UTSW	2	32633372	missense	possibly damaging	0.54
R4873:Ak1	UTSW	2	32631177	missense	probably benign	0.28
R4875:Ak1	UTSW	2	32631177	missense	probably benign	0.28
R5076:Ak1	UTSW	2	32633448	missense	probably damaging	1.00
R6187:Ak1	UTSW	2	32633477	missense	probably damaging	0.99
R6458:Ak1	UTSW	2	32630373	missense	probably damaging	1.00
R6818:Ak1	UTSW	2	32630373	missense	probably damaging	1.00
R6917:Ak1	UTSW	2	32631152	missense	possibly damaging	0.86
R6919:Ak1	UTSW	2	32631122	missense	possibly damaging	0.62
R8238:Ak1	UTSW	2	32633669	missense	probably damaging	1.00
R8803:Ak1	UTSW	2	32633478	missense	probably benign	0.28
Z1088:Ak1	UTSW	2	32630271	missense	probably damaging	1.00

Posted On

2013-11-05