Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Ak5'

441042

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152168461-152373992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152361670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 84 (M84K)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

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

AlphaFold

Q920P5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045262
AA Change: M84K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: M84K

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,403 (GRCm39)	I169V	probably damaging	Het
4930503B20Rik	C	T	3: 146,356,264 (GRCm39)	E215K	probably damaging	Het
Abca6	T	C	11: 110,141,234 (GRCm39)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,506 (GRCm39)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,877,321 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,527 (GRCm39)	I513F	possibly damaging	Het
Akap1	T	C	11: 88,736,453 (GRCm39)	T103A	probably benign	Het
Akap9	A	G	5: 4,100,590 (GRCm39)	T2751A	probably benign	Het
Amer3	A	T	1: 34,627,462 (GRCm39)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,818,232 (GRCm39)	Y325C	probably benign	Het
Apba2	A	G	7: 64,345,554 (GRCm39)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,315,983 (GRCm39)	V967E	probably damaging	Het
Atosa	T	A	9: 74,932,961 (GRCm39)	V976E	probably damaging	Het
Boc	A	G	16: 44,320,024 (GRCm39)	V320A	probably damaging	Het
Car13	T	A	3: 14,710,180 (GRCm39)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cep295	C	A	9: 15,246,404 (GRCm39)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,244,090 (GRCm39)	H1455Q	probably damaging	Het
Cr2	G	T	1: 194,836,581 (GRCm39)	H861N	probably damaging	Het
Cul5	T	C	9: 53,534,243 (GRCm39)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,982,596 (GRCm39)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,833,443 (GRCm39)	T500M	probably damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Fam161a	T	A	11: 22,965,725 (GRCm39)	I6N	probably damaging	Het
Fry	T	C	5: 150,304,332 (GRCm39)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,736,122 (GRCm39)	L553I	probably benign	Het
Gm1123	T	C	9: 98,896,244 (GRCm39)	D212G	probably benign	Het
Grin2a	T	A	16: 9,810,090 (GRCm39)	D103V	probably damaging	Het
Heg1	A	G	16: 33,527,333 (GRCm39)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,310,824 (GRCm39)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 61,349,834 (GRCm39)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,201,115 (GRCm39)	D452G	possibly damaging	Het
Iqcc	A	T	4: 129,510,320 (GRCm39)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,025,006 (GRCm39)	I669T	probably damaging	Het
Itgae	A	G	11: 73,020,074 (GRCm39)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,840,503 (GRCm39)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm39)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,541,348 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,742,278 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,109,943 (GRCm39)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,148,273 (GRCm39)	T682A	probably damaging	Het
Mab21l4	T	C	1: 93,080,668 (GRCm39)	T413A	probably damaging	Het
Mslnl	G	T	17: 25,956,816 (GRCm39)	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,426,044 (GRCm39)	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,426,051 (GRCm39)		probably null	Het
Nkx2-2	T	C	2: 147,026,319 (GRCm39)	T140A	probably damaging	Het
Or11h6	T	C	14: 50,880,524 (GRCm39)	V262A	probably benign	Het
Or4c125	A	T	2: 89,170,049 (GRCm39)	V199E	possibly damaging	Het
Oser1	C	T	2: 163,248,965 (GRCm39)	R79H	probably damaging	Het
Pfas	A	G	11: 68,881,958 (GRCm39)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,388 (GRCm39)	E1970G	probably benign	Het
Prph2	G	T	17: 47,221,593 (GRCm39)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm39)	A1288S	probably benign	Het
Scart2	G	A	7: 139,828,853 (GRCm39)	V171I	possibly damaging	Het
Sdha	A	G	13: 74,471,958 (GRCm39)		probably null	Het
Sec16a	T	G	2: 26,329,907 (GRCm39)	T703P	probably benign	Het
Senp7	T	A	16: 55,993,571 (GRCm39)	N724K	possibly damaging	Het
Skint1	A	G	4: 111,882,699 (GRCm39)	I248V	probably benign	Het
Slc9a5	T	C	8: 106,083,645 (GRCm39)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,780,385 (GRCm39)	N135S	possibly damaging	Het
Sncaip	A	G	18: 53,028,028 (GRCm39)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,225,781 (GRCm39)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,242,663 (GRCm39)	H281Q	probably benign	Het
Tex46	G	T	4: 136,340,228 (GRCm39)	M104I	probably benign	Het
Tjp3	T	C	10: 81,114,454 (GRCm39)		probably null	Het
Treh	A	G	9: 44,593,975 (GRCm39)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,337,611 (GRCm39)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,830,968 (GRCm39)	K1278E	probably damaging	Het
Tut4	G	A	4: 108,414,570 (GRCm39)	R49H	probably damaging	Het
Usp34	T	C	11: 23,325,024 (GRCm39)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Ywhae	T	C	11: 75,647,750 (GRCm39)	M160T	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
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
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'- GATGCCTGCTTTCATACCTATGAC -3'
(R):5'- AGGTTACACGTTCTCAATGCAG -3'

Sequencing Primer
(F):5'- CCTATGACAAGAATGATTTTGGGCCG -3'
(R):5'- AAGTTTTACTAGGACACTGGCCC -3'

Posted On

2016-11-08