Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Ak5'

460692

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152462815-152668360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152615952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045262]

AlphaFold

Q920P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045262
AA Change: D266G

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

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: D266G

Domain	Start	End	E-Value	Type
Pfam:AAA_17	134	263	1.1e-8	PFAM
Pfam:AAA_18	135	274	3e-10	PFAM
Pfam:ADK	137	294	5.8e-35	PFAM
Pfam:AAA_17	378	525	2.9e-8	PFAM
Pfam:ADK	381	537	1.9e-45	PFAM

Meta Mutation Damage Score

0.5829

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,066,150 (GRCm38)	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822 (GRCm38)	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827 (GRCm38)	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906 (GRCm38)	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910 (GRCm38)	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228 (GRCm38)	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122 (GRCm38)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784 (GRCm38)		probably benign	Het
Ank1	A	T	8: 23,140,204 (GRCm38)	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917 (GRCm38)	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222 (GRCm38)	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797 (GRCm38)	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719 (GRCm38)	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379 (GRCm38)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642 (GRCm38)		probably benign	Het
Csmd2	C	T	4: 128,197,385 (GRCm38)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371 (GRCm38)		probably benign	Het
Dnpep	C	T	1: 75,311,991 (GRCm38)		probably null	Het
Dopey2	A	T	16: 93,801,581 (GRCm38)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920 (GRCm38)	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112 (GRCm38)		probably null	Het
Ero1lb	T	A	13: 12,600,318 (GRCm38)	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543 (GRCm38)	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254 (GRCm38)		probably null	Het
Fap	A	T	2: 62,544,356 (GRCm38)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337 (GRCm38)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383 (GRCm38)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503 (GRCm38)	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156 (GRCm38)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097 (GRCm38)	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754 (GRCm38)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278 (GRCm38)		probably benign	Het
Ift140	A	G	17: 25,092,371 (GRCm38)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578 (GRCm38)		probably null	Het
Itga4	C	T	2: 79,322,656 (GRCm38)	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981 (GRCm38)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893 (GRCm38)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577 (GRCm38)		probably null	Het
Klk15	A	G	7: 43,938,759 (GRCm38)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706 (GRCm38)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293 (GRCm38)		probably benign	Het
Laptm4b	A	G	15: 34,258,684 (GRCm38)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097 (GRCm38)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503 (GRCm38)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050 (GRCm38)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791 (GRCm38)		probably benign	Het
Nup133	A	G	8: 123,916,299 (GRCm38)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983 (GRCm38)	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874 (GRCm38)	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957 (GRCm38)	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219 (GRCm38)	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876 (GRCm38)	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188 (GRCm38)	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540 (GRCm38)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651 (GRCm38)		probably null	Het
Plekhf1	A	T	7: 38,222,170 (GRCm38)		probably null	Het
Rars	T	C	11: 35,828,648 (GRCm38)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808 (GRCm38)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682 (GRCm38)		probably null	Het
Scaf1	A	G	7: 45,013,592 (GRCm38)		probably benign	Het
Serpinb11	A	T	1: 107,372,189 (GRCm38)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103 (GRCm38)	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175 (GRCm38)		probably null	Het
Slfn1	C	A	11: 83,121,176 (GRCm38)	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295 (GRCm38)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319 (GRCm38)	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674 (GRCm38)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm38)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632 (GRCm38)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534 (GRCm38)		probably benign	Het
Ubqln5	T	G	7: 104,128,574 (GRCm38)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085 (GRCm38)	D22G	probably benign	Het
Vars	A	G	17: 35,012,376 (GRCm38)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453 (GRCm38)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871 (GRCm38)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066 (GRCm38)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428 (GRCm38)		probably benign	Het
Zbtb2	A	T	10: 4,368,592 (GRCm38)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988 (GRCm38)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149 (GRCm38)		probably null	Het
Zfp629	G	A	7: 127,610,370 (GRCm38)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173 (GRCm38)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072 (GRCm38)	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523 (GRCm38)	T396I	probably benign	Het

Other mutations in Ak5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Ak5	APN	3	152,526,785 (GRCm38)	missense	probably benign	0.28
IGL02237:Ak5	APN	3	152,499,343 (GRCm38)	missense	probably benign	0.44
IGL02661:Ak5	APN	3	152,463,956 (GRCm38)	missense	probably benign
IGL03097:Ak5	UTSW	3	152,660,514 (GRCm38)	critical splice donor site	probably null
R0645:Ak5	UTSW	3	152,653,615 (GRCm38)	missense	probably damaging	1.00
R1135:Ak5	UTSW	3	152,653,662 (GRCm38)	missense	probably damaging	1.00
R1346:Ak5	UTSW	3	152,533,434 (GRCm38)	missense	probably damaging	1.00
R1347:Ak5	UTSW	3	152,533,434 (GRCm38)	missense	probably damaging	1.00
R1347:Ak5	UTSW	3	152,533,434 (GRCm38)	missense	probably damaging	1.00
R1349:Ak5	UTSW	3	152,533,434 (GRCm38)	missense	probably damaging	1.00
R1749:Ak5	UTSW	3	152,472,920 (GRCm38)	missense	probably damaging	0.99
R2059:Ak5	UTSW	3	152,660,637 (GRCm38)	missense	probably damaging	1.00
R3929:Ak5	UTSW	3	152,667,807 (GRCm38)	missense	probably damaging	0.98
R4433:Ak5	UTSW	3	152,655,880 (GRCm38)	missense	probably damaging	1.00
R4909:Ak5	UTSW	3	152,655,877 (GRCm38)	missense	probably damaging	1.00
R5052:Ak5	UTSW	3	152,660,567 (GRCm38)	missense	probably benign	0.00
R5097:Ak5	UTSW	3	152,481,633 (GRCm38)	missense	probably damaging	0.99
R5645:Ak5	UTSW	3	152,656,033 (GRCm38)	missense	possibly damaging	0.92
R6505:Ak5	UTSW	3	152,481,669 (GRCm38)	missense	probably benign	0.01
R7117:Ak5	UTSW	3	152,615,856 (GRCm38)	critical splice donor site	probably null
R7397:Ak5	UTSW	3	152,478,352 (GRCm38)	missense	probably damaging	1.00
R7455:Ak5	UTSW	3	152,481,572 (GRCm38)	missense	probably damaging	0.99
R8440:Ak5	UTSW	3	152,504,043 (GRCm38)	splice site	probably null
R8802:Ak5	UTSW	3	152,615,994 (GRCm38)	missense	probably damaging	1.00
R8943:Ak5	UTSW	3	152,655,874 (GRCm38)	missense	probably damaging	0.99
R9002:Ak5	UTSW	3	152,653,454 (GRCm38)	missense	probably damaging	1.00
R9130:Ak5	UTSW	3	152,472,932 (GRCm38)	nonsense	probably null
X0023:Ak5	UTSW	3	152,616,027 (GRCm38)	missense	probably damaging	1.00
X0024:Ak5	UTSW	3	152,653,597 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCCAAGTGAGAGCATGGGC -3'
(R):5'- CCTGCTGCTGTCAATGTGTG -3'

Sequencing Primer
(F):5'- CTGGTTGGAGGTCTGAAGGTC -3'
(R):5'- CTGTGATAACTCCAGCTGTGTCAAG -3'

Posted On

2017-02-28