Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Ak5'

328686

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152168461-152373992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152361517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

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

AlphaFold

Q920P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045262
AA Change: I135T

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

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: I135T

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

0.6775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Ak5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Ak5	APN	3	152,232,422 (GRCm39)	missense	probably benign	0.28
IGL02237:Ak5	APN	3	152,204,980 (GRCm39)	missense	probably benign	0.44
IGL02661:Ak5	APN	3	152,169,593 (GRCm39)	missense	probably benign
IGL03097:Ak5	UTSW	3	152,366,151 (GRCm39)	critical splice donor site	probably null
R0645:Ak5	UTSW	3	152,359,252 (GRCm39)	missense	probably damaging	1.00
R1135:Ak5	UTSW	3	152,359,299 (GRCm39)	missense	probably damaging	1.00
R1346:Ak5	UTSW	3	152,239,071 (GRCm39)	missense	probably damaging	1.00
R1347:Ak5	UTSW	3	152,239,071 (GRCm39)	missense	probably damaging	1.00
R1347:Ak5	UTSW	3	152,239,071 (GRCm39)	missense	probably damaging	1.00
R1349:Ak5	UTSW	3	152,239,071 (GRCm39)	missense	probably damaging	1.00
R1749:Ak5	UTSW	3	152,178,557 (GRCm39)	missense	probably damaging	0.99
R2059:Ak5	UTSW	3	152,366,274 (GRCm39)	missense	probably damaging	1.00
R3929:Ak5	UTSW	3	152,373,444 (GRCm39)	missense	probably damaging	0.98
R4909:Ak5	UTSW	3	152,361,514 (GRCm39)	missense	probably damaging	1.00
R5052:Ak5	UTSW	3	152,366,204 (GRCm39)	missense	probably benign	0.00
R5097:Ak5	UTSW	3	152,187,270 (GRCm39)	missense	probably damaging	0.99
R5645:Ak5	UTSW	3	152,361,670 (GRCm39)	missense	possibly damaging	0.92
R5907:Ak5	UTSW	3	152,321,589 (GRCm39)	missense	probably damaging	1.00
R6505:Ak5	UTSW	3	152,187,306 (GRCm39)	missense	probably benign	0.01
R7117:Ak5	UTSW	3	152,321,493 (GRCm39)	critical splice donor site	probably null
R7397:Ak5	UTSW	3	152,183,989 (GRCm39)	missense	probably damaging	1.00
R7455:Ak5	UTSW	3	152,187,209 (GRCm39)	missense	probably damaging	0.99
R8440:Ak5	UTSW	3	152,209,680 (GRCm39)	splice site	probably null
R8802:Ak5	UTSW	3	152,321,631 (GRCm39)	missense	probably damaging	1.00
R8943:Ak5	UTSW	3	152,361,511 (GRCm39)	missense	probably damaging	0.99
R9002:Ak5	UTSW	3	152,359,091 (GRCm39)	missense	probably damaging	1.00
R9130:Ak5	UTSW	3	152,178,569 (GRCm39)	nonsense	probably null
X0023:Ak5	UTSW	3	152,321,664 (GRCm39)	missense	probably damaging	1.00
X0024:Ak5	UTSW	3	152,359,234 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTCTGTGGCTACTAGGG -3'
(R):5'- CTAACTGGTCAACTGTGAAGAAGTG -3'

Sequencing Primer
(F):5'- CTTGGAGATATTGTTTACAGGTCATC -3'
(R):5'- GAAGAAGTGCTTCCCTCTGC -3'

Posted On

2015-07-21