Mutagenetix > Incidental Mutation

Incidental Mutation 'R9130:Ak5'

693528

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

068928-MU

Accession Numbers

Essential gene?

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

Stock #

R9130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152168461-152373992 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 152178569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 482 (L482*)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

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

AlphaFold

Q920P5

Predicted Effect

probably null
Transcript: ENSMUST00000045262
AA Change: L482*

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: L482*

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

Predicted Effect

probably null
Transcript: ENSMUST00000200062
AA Change: L140*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (87/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,342,753 (GRCm39)	C585R	possibly damaging	Het
Acaca	T	C	11: 84,202,145 (GRCm39)	L1380S	probably damaging	Het
Aifm2	A	C	10: 61,563,505 (GRCm39)	Q125P	probably null	Het
Aldh3a2	T	C	11: 61,139,758 (GRCm39)	Q458R	probably benign	Het
Ank2	G	A	3: 126,810,565 (GRCm39)	T524I		Het
Apoc3	A	T	9: 46,146,481 (GRCm39)	S25T	unknown	Het
Ash1l	A	T	3: 88,965,848 (GRCm39)	R2417*	probably null	Het
Bbs12	A	G	3: 37,373,205 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,919,146 (GRCm39)	I1992N		Het
Brd9	G	A	13: 74,092,906 (GRCm39)	V299M	probably damaging	Het
Brwd1	A	T	16: 95,866,130 (GRCm39)	N217K	probably damaging	Het
C3	T	C	17: 57,518,678 (GRCm39)	Y1235C	probably damaging	Het
Cacna1c	T	C	6: 118,590,907 (GRCm39)	Y1538C		Het
Ccdc172	T	A	19: 58,525,779 (GRCm39)	H212Q	possibly damaging	Het
Cdc6	A	G	11: 98,802,999 (GRCm39)	D313G	probably damaging	Het
Cyp2e1	T	C	7: 140,353,022 (GRCm39)	V353A	probably damaging	Het
Dlg2	G	T	7: 92,080,258 (GRCm39)	V711F	probably damaging	Het
Dmac2	T	C	7: 25,320,448 (GRCm39)	F49S	probably damaging	Het
Dnah7b	A	G	1: 46,173,674 (GRCm39)	K660E	probably benign	Het
Dusp8	A	T	7: 141,642,155 (GRCm39)	S106T	probably benign	Het
Dynll1	T	A	5: 115,438,604 (GRCm39)	I34F	probably benign	Het
Epb41l4b	A	G	4: 57,103,447 (GRCm39)	F130L	possibly damaging	Het
Erc2	T	C	14: 27,751,418 (GRCm39)	Y705H	probably benign	Het
Exosc8	T	A	3: 54,638,503 (GRCm39)	L160F	probably damaging	Het
F5	A	G	1: 164,001,830 (GRCm39)	T178A	probably benign	Het
F7	C	A	8: 13,085,059 (GRCm39)	P362T	probably damaging	Het
Fkbp3	T	C	12: 65,112,567 (GRCm39)	K156E	possibly damaging	Het
Folh1	G	A	7: 86,368,913 (GRCm39)	T738I	probably benign	Het
Gatad2b	C	T	3: 90,255,936 (GRCm39)	A134V	probably benign	Het
Glud1	T	A	14: 34,057,349 (GRCm39)	W338R		Het
Gm21149	T	C	5: 15,680,261 (GRCm39)	K62E	possibly damaging	Het
Gm32742	A	G	9: 51,050,049 (GRCm39)	Y1517H	probably damaging	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Gse1	A	T	8: 121,295,052 (GRCm39)	E391V	unknown	Het
Gxylt2	C	T	6: 100,710,329 (GRCm39)	Q157*	probably null	Het
Hbq1b	C	T	11: 32,237,092 (GRCm39)	T27I	probably damaging	Het
Hoxd13	T	A	2: 74,499,382 (GRCm39)	D243E	probably benign	Het
Hsd3b3	T	A	3: 98,651,211 (GRCm39)	I80F	possibly damaging	Het
Hsf2bp	A	T	17: 32,230,082 (GRCm39)		probably benign	Het
Itch	G	A	2: 155,052,045 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,215,742 (GRCm39)	F76L	probably benign	Het
Kdm6b	T	C	11: 69,295,424 (GRCm39)	T948A	unknown	Het
Kmt2c	A	T	5: 25,516,102 (GRCm39)	H2580Q	probably benign	Het
Lrp1	T	C	10: 127,382,281 (GRCm39)	T3727A	probably benign	Het
Lrrc8a	A	G	2: 30,147,042 (GRCm39)	I619V	possibly damaging	Het
Mansc1	C	A	6: 134,586,951 (GRCm39)	G409W	probably damaging	Het
Map3k11	C	A	19: 5,746,038 (GRCm39)	L418I	possibly damaging	Het
Mettl4	T	A	17: 95,042,913 (GRCm39)	I308L	possibly damaging	Het
Myo9a	A	G	9: 59,739,514 (GRCm39)	D742G	probably damaging	Het
Mypn	T	C	10: 63,028,652 (GRCm39)	Q137R	probably benign	Het
Neurod4	A	T	10: 130,106,427 (GRCm39)	Y282*	probably null	Het
Nup210	A	G	6: 91,020,799 (GRCm39)	F965S	probably benign	Het
Oplah	T	C	15: 76,185,098 (GRCm39)	T872A	possibly damaging	Het
Or1ab2	G	T	8: 72,863,697 (GRCm39)	G96C	probably damaging	Het
Or4b12	A	G	2: 90,096,358 (GRCm39)	C139R	probably damaging	Het
Or5m8	T	G	2: 85,822,819 (GRCm39)	Y219*	probably null	Het
Or6c68	A	G	10: 129,157,897 (GRCm39)	N135S	probably benign	Het
Pkn2	A	T	3: 142,515,245 (GRCm39)	D696E	possibly damaging	Het
Pla2r1	A	T	2: 60,325,729 (GRCm39)		probably benign	Het
Plpp1	A	T	13: 112,988,038 (GRCm39)	I54L		Het
Ppp4r2	T	G	6: 100,842,113 (GRCm39)	N191K	probably damaging	Het
Ptpdc1	G	T	13: 48,739,655 (GRCm39)	P592Q	probably benign	Het
Qrich2	A	T	11: 116,347,692 (GRCm39)	L1044*	probably null	Het
Rb1cc1	A	G	1: 6,315,109 (GRCm39)	I421V	probably damaging	Het
Ripor3	A	T	2: 167,823,267 (GRCm39)	C881*	probably null	Het
Rreb1	T	C	13: 38,114,282 (GRCm39)	F547S	probably benign	Het
Scel	T	C	14: 103,770,746 (GRCm39)	V60A	probably benign	Het
Shank3	G	A	15: 89,442,419 (GRCm39)	A1771T	probably benign	Het
Slc6a20a	A	G	9: 123,469,631 (GRCm39)		probably null	Het
Slfn5	C	T	11: 82,851,446 (GRCm39)	T581I	probably damaging	Het
Ssh3	A	C	19: 4,314,113 (GRCm39)	V412G	probably damaging	Het
Stx17	T	G	4: 48,159,071 (GRCm39)		probably benign	Het
Sun3	T	G	11: 8,968,170 (GRCm39)	T274P	probably benign	Het
Tm9sf1	T	C	14: 55,875,464 (GRCm39)	T427A	probably damaging	Het
Tmem114	T	A	16: 8,229,983 (GRCm39)	I140F		Het
Tmem40	T	C	6: 115,710,980 (GRCm39)	R167G	possibly damaging	Het
Top3a	C	A	11: 60,641,401 (GRCm39)		probably null	Het
Trafd1	A	G	5: 121,516,573 (GRCm39)	V210A	probably benign	Het
Trim66	T	C	7: 109,076,896 (GRCm39)	I348V	possibly damaging	Het
Ttn	G	A	2: 76,679,172 (GRCm39)	A10850V	unknown	Het
Unc80	G	A	1: 66,677,244 (GRCm39)	A2058T	possibly damaging	Het
Upp2	T	C	2: 58,668,020 (GRCm39)	Y238H	probably damaging	Het
Vmn1r224	T	A	17: 20,640,242 (GRCm39)	I273N	probably damaging	Het
Vps13c	T	C	9: 67,836,805 (GRCm39)	S1768P	probably damaging	Het
Zfp26	G	A	9: 20,348,723 (GRCm39)	H614Y	probably damaging	Het
Zfp263	C	T	16: 3,567,701 (GRCm39)	T672I	probably benign	Het
Zfp641	T	A	15: 98,186,732 (GRCm39)	Q297L	probably benign	Het
Zfp944	T	C	17: 22,560,031 (GRCm39)	E25G	probably damaging	Het
Zfp994	T	C	17: 22,418,981 (GRCm39)	E656G	unknown	Het
Zfyve19	A	G	2: 119,045,330 (GRCm39)	D206G	probably damaging	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
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
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'- ACTTGCCTTCCGTAGCTGTG -3'
(R):5'- GTCTGAGCTGACCAGAAAGC -3'

Sequencing Primer
(F):5'- GTTTTCCTCTCGTAGTAGGTGACGAC -3'
(R):5'- CAGAGCTAGCAGGCAGC -3'

Posted On

2022-01-20