Mutagenetix > Incidental Mutation

Incidental Mutation 'R1749:Ak5'

194186

Institutional Source

Beutler Lab

Gene Symbol

Ak5

Ensembl Gene

ENSMUSG00000039058

Gene Name

adenylate kinase 5

Synonyms

MMRRC Submission

039781-MU

Accession Numbers

Essential gene?

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

Stock #

R1749 (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 152178557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 486 (M486K)

Ref Sequence

ENSEMBL: ENSMUSP00000042785 (fasta)

Gene Model

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

AlphaFold

Q920P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045262
AA Change: M486K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: M486K

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

noncoding transcript
Transcript: ENSMUST00000198552

Predicted Effect

unknown
Transcript: ENSMUST00000200062
AA Change: M144K

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Aspn	A	T	13: 49,705,261 (GRCm39)	D41V	probably benign	Het
Atp8a2	C	A	14: 60,097,623 (GRCm39)	E802*	probably null	Het
Barhl2	T	C	5: 106,605,572 (GRCm39)	S46G	unknown	Het
Cacna1e	A	G	1: 154,319,746 (GRCm39)	V1318A	probably damaging	Het
Ccdc69	T	C	11: 54,941,979 (GRCm39)	R176G	probably null	Het
Cdan1	T	C	2: 120,560,280 (GRCm39)	N321S	probably damaging	Het
Cep85l	T	C	10: 53,154,250 (GRCm39)	D681G	probably damaging	Het
Cntrob	A	T	11: 69,213,700 (GRCm39)	V30E	probably damaging	Het
Csmd3	C	T	15: 47,449,056 (GRCm39)	G3646E	probably damaging	Het
Cx3cl1	A	G	8: 95,506,789 (GRCm39)		probably null	Het
Dab1	A	T	4: 104,185,495 (GRCm39)		probably benign	Het
Dennd2c	T	C	3: 103,039,352 (GRCm39)	S167P	possibly damaging	Het
Dock2	A	G	11: 34,182,767 (GRCm39)		probably null	Het
Dok3	GCC	GC	13: 55,672,168 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,798,835 (GRCm39)	I287L	possibly damaging	Het
Eci1	G	A	17: 24,645,721 (GRCm39)		probably null	Het
Emb	T	A	13: 117,386,242 (GRCm39)	I133N	possibly damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbn2	T	C	18: 58,183,348 (GRCm39)	D1779G	probably benign	Het
Fgfr4	T	A	13: 55,315,605 (GRCm39)		probably null	Het
Flt1	G	A	5: 147,591,929 (GRCm39)	T511M	probably benign	Het
Gys1	T	C	7: 45,089,456 (GRCm39)	L205P	probably damaging	Het
Hepacam2	A	G	6: 3,483,379 (GRCm39)	V134A	probably damaging	Het
Htr3a	A	G	9: 48,812,233 (GRCm39)	V291A	probably damaging	Het
Ip6k3	T	A	17: 27,364,053 (GRCm39)	T332S	probably benign	Het
Klra6	A	T	6: 129,995,915 (GRCm39)	F148I	probably damaging	Het
Kntc1	T	C	5: 123,927,162 (GRCm39)	S1206P	probably benign	Het
Mbnl2	T	A	14: 120,626,462 (GRCm39)	C231S	probably damaging	Het
Mdn1	A	T	4: 32,773,952 (GRCm39)	D5521V	probably damaging	Het
Mylip	G	A	13: 45,557,946 (GRCm39)	V52M	possibly damaging	Het
Naip6	A	G	13: 100,444,763 (GRCm39)	S232P	probably benign	Het
Ndc80	T	C	17: 71,808,550 (GRCm39)	K504R	probably benign	Het
Nf2	T	C	11: 4,753,694 (GRCm39)	N220S	possibly damaging	Het
Nfasc	T	A	1: 132,539,370 (GRCm39)	I393F	probably damaging	Het
Or12d2	T	C	17: 37,624,952 (GRCm39)	T108A	probably benign	Het
Pabpc1	T	C	15: 36,608,584 (GRCm39)	Y56C	probably damaging	Het
Pcca	A	G	14: 122,938,542 (GRCm39)	K498R	probably damaging	Het
Phldb1	A	G	9: 44,627,045 (GRCm39)	S467P	probably damaging	Het
Ptprn2	T	C	12: 116,544,048 (GRCm39)	S47P	probably benign	Het
Rtca	A	T	3: 116,291,293 (GRCm39)	I229N	possibly damaging	Het
Sh3rf2	T	A	18: 42,286,359 (GRCm39)	S617R	probably damaging	Het
Slc14a2	T	G	18: 78,190,295 (GRCm39)	T885P	possibly damaging	Het
Sp100	A	C	1: 85,627,357 (GRCm39)	T417P	possibly damaging	Het
Tat	A	T	8: 110,722,846 (GRCm39)	N303Y	probably damaging	Het
Tet2	A	G	3: 133,185,892 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tnks1bp1	A	G	2: 84,893,411 (GRCm39)	S1113G	probably benign	Het
Tspear	G	A	10: 77,705,507 (GRCm39)	E302K	probably benign	Het
Tulp3	A	G	6: 128,314,722 (GRCm39)	L23P	probably damaging	Het
Vti1b	T	C	12: 79,211,807 (GRCm39)	E42G	probably damaging	Het
Yeats2	G	T	16: 20,005,018 (GRCm39)	E333*	probably null	Het
Zfp455	T	G	13: 67,355,073 (GRCm39)	C114G	probably damaging	Het
Zfp532	G	A	18: 65,756,555 (GRCm39)	V163M	possibly damaging	Het
Zfp940	A	T	7: 29,544,952 (GRCm39)	C318*	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
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
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'- TTCCTCTCGTAGTAGGTGACGACG -3'
(R):5'- GACAGACTGGCTGCACTAGGAAAC -3'

Sequencing Primer
(F):5'- TGACGACGGGGATGGAC -3'
(R):5'- ctgcactaggaaactttcgac -3'

Posted On

2014-05-23