Mutagenetix > Incidental Mutation

Incidental Mutation 'R8943:Ak5'

681084

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

068782-MU

Accession Numbers

Essential gene?

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

Stock #

R8943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152168461-152373992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152361511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

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

AlphaFold

Q920P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045262
AA Change: V137A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: V137A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

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
2610021A01Rik	T	C	7: 41,275,667 (GRCm39)	S457P	probably damaging	Het
Aak1	A	G	6: 86,964,234 (GRCm39)	N945S	unknown	Het
Actr1a	C	A	19: 46,369,438 (GRCm39)	R192L	possibly damaging	Het
Adgrl2	T	A	3: 148,534,119 (GRCm39)	N1036I	probably damaging	Het
Aldh1a2	T	C	9: 71,169,055 (GRCm39)	V179A	probably damaging	Het
Ap2b1	A	T	11: 83,237,579 (GRCm39)	I548F	probably damaging	Het
Arhgef10l	A	G	4: 140,292,550 (GRCm39)	Y352H	probably damaging	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atoh7	A	G	10: 62,935,938 (GRCm39)	K2E	possibly damaging	Het
BC061237	A	G	14: 44,741,658 (GRCm39)	I134V	probably benign	Het
Cadm1	T	C	9: 47,701,136 (GRCm39)	I141T	probably damaging	Het
Capn10	T	C	1: 92,871,454 (GRCm39)	S351P	probably damaging	Het
Cct6b	T	C	11: 82,654,959 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,011,330 (GRCm39)	T284A	probably benign	Het
Cfap53	A	G	18: 74,432,253 (GRCm39)	Y47C	probably damaging	Het
Cldn18	T	C	9: 99,578,162 (GRCm39)	M194V	probably benign	Het
Dgkb	T	A	12: 38,652,777 (GRCm39)	Y721N	probably damaging	Het
Dmbt1	A	G	7: 130,721,372 (GRCm39)	Q1880R	possibly damaging	Het
Dock2	T	C	11: 34,599,646 (GRCm39)	N311S	possibly damaging	Het
Dpysl5	G	T	5: 30,935,375 (GRCm39)	M159I	probably benign	Het
Eif2b3	G	A	4: 116,901,778 (GRCm39)	G147E	probably damaging	Het
Fam193a	A	G	5: 34,597,796 (GRCm39)	D531G	probably benign	Het
Fndc3b	T	C	3: 27,555,329 (GRCm39)		probably benign	Het
Foxe3	C	A	4: 114,782,523 (GRCm39)	A230S	unknown	Het
Gm5591	A	T	7: 38,219,727 (GRCm39)	V382E	probably benign	Het
Gm7995	A	T	14: 42,132,228 (GRCm39)	N21I	probably damaging	Het
Ipo8	G	A	6: 148,676,547 (GRCm39)	P981S	probably benign	Het
Kcnh8	A	G	17: 53,104,486 (GRCm39)	D161G	probably benign	Het
Krt71	A	G	15: 101,645,180 (GRCm39)	I377T	possibly damaging	Het
Krt75	A	T	15: 101,476,767 (GRCm39)	M374K	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lpcat1	A	G	13: 73,662,029 (GRCm39)	T409A	probably benign	Het
Lrch1	A	T	14: 75,032,808 (GRCm39)	I514K	probably benign	Het
Mc4r	A	C	18: 66,993,110 (GRCm39)	M1R	probably null	Het
Mthfd1l	A	T	10: 3,978,466 (GRCm39)	H442L	probably damaging	Het
Or5d38	T	A	2: 87,954,718 (GRCm39)	I204F	probably damaging	Het
Pdcd1lg2	T	C	19: 29,423,553 (GRCm39)	M199T	probably benign	Het
Pigg	G	A	5: 108,484,066 (GRCm39)	V438M	probably damaging	Het
Pira12	T	C	7: 3,898,365 (GRCm39)	E319G	probably benign	Het
Ppfibp1	T	A	6: 146,920,681 (GRCm39)		probably null	Het
Rbm15	T	A	3: 107,239,372 (GRCm39)	Y342F	possibly damaging	Het
Rhbdl1	A	T	17: 26,054,116 (GRCm39)	V278E	probably damaging	Het
Ryr3	T	C	2: 112,465,669 (GRCm39)	N4781S	probably damaging	Het
Scn7a	A	T	2: 66,525,206 (GRCm39)		silent	Het
Sfswap	A	G	5: 129,581,168 (GRCm39)	R114G	probably damaging	Het
Sohlh2	C	A	3: 55,104,282 (GRCm39)	A258D	possibly damaging	Het
Sstr4	T	A	2: 148,237,782 (GRCm39)	V131D	possibly damaging	Het
Tenm2	T	C	11: 36,834,861 (GRCm39)	T45A	probably damaging	Het
Tmem131l	A	T	3: 83,831,479 (GRCm39)	F818I	probably damaging	Het
Trappc6b	A	G	12: 59,097,149 (GRCm39)	F58L	probably damaging	Het
Vmn1r229	A	T	17: 21,035,418 (GRCm39)	H221L	possibly damaging	Het
Vmn1r33	T	A	6: 66,588,783 (GRCm39)	Y257F	probably damaging	Het
Wdfy3	T	C	5: 101,993,231 (GRCm39)		probably benign	Het
Zfp446	C	T	7: 12,713,564 (GRCm39)	Q177*	probably null	Het
Zup1	A	G	10: 33,795,301 (GRCm39)	*552Q	probably null	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
R4433:Ak5	UTSW	3	152,361,517 (GRCm39)	missense	probably damaging	1.00
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
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'- AACTGGTCAACTGTGAAGAAGTGC -3'

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

Posted On

2021-08-31