Mutagenetix > Incidental Mutation

Incidental Mutation 'R5858:Ak9'

455011

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

044070-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41299023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1575 (V1575I)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173494]

AlphaFold

G3UYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000173494
AA Change: V1575I

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: V1575I

Domain	Start	End	E-Value	Type
AAA	30	330	4.65e-3	SMART
AAA	391	733	9.11e-1	SMART
Pfam:DUF3508	812	971	1.4e-7	PFAM
AAA	974	1297	1.2e-1	SMART
Blast:AAA	1326	1388	8e-18	BLAST
AAA	1393	1824	1.44e0	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,781,343 (GRCm39)	Q102L	probably benign	Het
Alg14	G	A	3: 121,113,737 (GRCm39)		probably benign	Het
Arl5a	T	C	2: 52,302,118 (GRCm39)	I99V	probably benign	Het
Cacul1	T	C	19: 60,517,482 (GRCm39)		probably benign	Het
Cc2d2a	C	T	5: 43,873,117 (GRCm39)	R934C	probably damaging	Het
Ccr2	A	G	9: 123,906,464 (GRCm39)	E248G	probably benign	Het
Cds2	G	T	2: 132,144,033 (GRCm39)	V287L	probably benign	Het
Cflar	T	C	1: 58,793,010 (GRCm39)	S459P	probably benign	Het
Clcc1	A	G	3: 108,568,744 (GRCm39)	D21G	probably damaging	Het
Col8a2	C	T	4: 126,205,093 (GRCm39)		probably benign	Het
Cops7a	A	T	6: 124,937,134 (GRCm39)	S186T	possibly damaging	Het
Dagla	C	T	19: 10,232,332 (GRCm39)		probably benign	Het
Dapp1	T	C	3: 137,667,292 (GRCm39)	Y49C	possibly damaging	Het
Dnase1	T	C	16: 3,857,513 (GRCm39)		probably benign	Het
Dock9	A	G	14: 121,866,204 (GRCm39)	V633A	probably benign	Het
E4f1	A	G	17: 24,664,302 (GRCm39)	F461L	probably damaging	Het
Epg5	T	A	18: 77,991,514 (GRCm39)	C70*	probably null	Het
Ephb2	T	C	4: 136,399,756 (GRCm39)	H589R	probably benign	Het
Fam184b	A	T	5: 45,796,461 (GRCm39)	C41S	probably damaging	Het
Hace1	A	G	10: 45,587,621 (GRCm39)	T907A	possibly damaging	Het
Il31	T	A	5: 123,618,637 (GRCm39)	T129S	probably benign	Het
Il6	A	T	5: 30,218,472 (GRCm39)	T23S	possibly damaging	Het
Kif12	T	C	4: 63,084,647 (GRCm39)	E557G	probably benign	Het
Krt24	A	T	11: 99,175,591 (GRCm39)	L148H	probably damaging	Het
Mapk8ip1	A	G	2: 92,215,317 (GRCm39)	F635S	probably damaging	Het
Mcc	A	T	18: 44,643,208 (GRCm39)	V313E	probably damaging	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Nbea	A	G	3: 55,860,455 (GRCm39)		probably null	Het
Or12e10	A	T	2: 87,640,985 (GRCm39)	I274F	probably benign	Het
Or2ag1	T	A	7: 106,472,975 (GRCm39)	Y159F	probably benign	Het
Or2m13	A	G	16: 19,225,975 (GRCm39)	S265P	possibly damaging	Het
Or5b94	A	G	19: 12,651,743 (GRCm39)	Y58C	probably damaging	Het
P4ha1	A	T	10: 59,175,200 (GRCm39)	L53F	probably damaging	Het
Pcdha7	A	G	18: 37,109,279 (GRCm39)	D768G	probably damaging	Het
Pdzd2	T	A	15: 12,442,675 (GRCm39)	D208V	probably damaging	Het
Ptk2	A	T	15: 73,192,944 (GRCm39)	I159K	probably benign	Het
Rfx6	A	G	10: 51,601,964 (GRCm39)	N761S	probably benign	Het
Rpp25l	A	T	4: 41,712,678 (GRCm39)	D32E	probably benign	Het
Rxrg	A	T	1: 167,454,925 (GRCm39)	K169N	probably damaging	Het
Ryr2	T	C	13: 11,575,460 (GRCm39)	D4846G	probably damaging	Het
Sec23a	A	G	12: 59,019,821 (GRCm39)	F553S	probably damaging	Het
Spen	T	C	4: 141,201,182 (GRCm39)	I2482V	probably benign	Het
Ston1	A	G	17: 88,943,059 (GRCm39)	D155G	possibly damaging	Het
Tha1	A	G	11: 117,764,210 (GRCm39)	F6L	unknown	Het
Trank1	T	A	9: 111,221,604 (GRCm39)	D2780E	probably benign	Het
Ubqln5	T	C	7: 103,778,018 (GRCm39)	T269A	probably benign	Het
Vars1	C	T	17: 35,224,451 (GRCm39)	R324C	probably benign	Het
Zfp287	T	A	11: 62,604,833 (GRCm39)	Q691H	probably damaging	Het

Other mutations in Ak9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Mean	UTSW	10	41,233,559 (GRCm39)	missense	possibly damaging	0.59
BB006:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
BB016:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
R0057:Ak9	UTSW	10	41,268,724 (GRCm39)	missense	probably benign	0.04
R0605:Ak9	UTSW	10	41,221,135 (GRCm39)	missense	probably damaging	1.00
R0658:Ak9	UTSW	10	41,223,218 (GRCm39)	missense	probably damaging	0.98
R1696:Ak9	UTSW	10	41,203,585 (GRCm39)	missense	possibly damaging	0.73
R1738:Ak9	UTSW	10	41,211,917 (GRCm39)	missense	possibly damaging	0.86
R1815:Ak9	UTSW	10	41,213,572 (GRCm39)	missense	probably damaging	1.00
R2900:Ak9	UTSW	10	41,300,751 (GRCm39)	missense	unknown
R3123:Ak9	UTSW	10	41,234,576 (GRCm39)	missense	possibly damaging	0.46
R3715:Ak9	UTSW	10	41,233,508 (GRCm39)	missense	probably damaging	0.96
R4092:Ak9	UTSW	10	41,265,140 (GRCm39)	missense	probably benign	0.29
R4193:Ak9	UTSW	10	41,211,941 (GRCm39)	missense	probably benign	0.14
R4598:Ak9	UTSW	10	41,259,907 (GRCm39)	missense	probably damaging	1.00
R4621:Ak9	UTSW	10	41,282,887 (GRCm39)	missense	possibly damaging	0.55
R4681:Ak9	UTSW	10	41,303,234 (GRCm39)	missense	unknown
R4707:Ak9	UTSW	10	41,221,456 (GRCm39)	missense	probably benign	0.36
R4908:Ak9	UTSW	10	41,296,678 (GRCm39)	missense	unknown
R4952:Ak9	UTSW	10	41,296,585 (GRCm39)	missense	probably benign	0.07
R5162:Ak9	UTSW	10	41,233,653 (GRCm39)	missense	probably damaging	1.00
R5446:Ak9	UTSW	10	41,296,505 (GRCm39)	missense	possibly damaging	0.70
R5494:Ak9	UTSW	10	41,223,165 (GRCm39)	missense	probably damaging	1.00
R5517:Ak9	UTSW	10	41,216,887 (GRCm39)	missense	probably benign	0.23
R5849:Ak9	UTSW	10	41,224,045 (GRCm39)	missense	probably benign	0.31
R5920:Ak9	UTSW	10	41,296,672 (GRCm39)	missense	probably benign	0.30
R5952:Ak9	UTSW	10	41,233,559 (GRCm39)	missense	possibly damaging	0.59
R5955:Ak9	UTSW	10	41,234,560 (GRCm39)	missense	probably damaging	1.00
R6050:Ak9	UTSW	10	41,265,108 (GRCm39)	missense	possibly damaging	0.74
R6087:Ak9	UTSW	10	41,258,828 (GRCm39)	missense	probably benign	0.01
R6190:Ak9	UTSW	10	41,298,404 (GRCm39)	missense	unknown
R6190:Ak9	UTSW	10	41,298,403 (GRCm39)	missense	unknown
R6197:Ak9	UTSW	10	41,193,826 (GRCm39)	missense	probably damaging	0.98
R6220:Ak9	UTSW	10	41,246,095 (GRCm39)	missense	unknown
R6250:Ak9	UTSW	10	41,265,030 (GRCm39)	missense	possibly damaging	0.54
R6315:Ak9	UTSW	10	41,282,837 (GRCm39)	missense	possibly damaging	0.55
R6331:Ak9	UTSW	10	41,258,825 (GRCm39)	missense	probably damaging	0.99
R6812:Ak9	UTSW	10	41,243,163 (GRCm39)	missense	unknown
R6847:Ak9	UTSW	10	41,233,797 (GRCm39)	splice site	probably null
R7128:Ak9	UTSW	10	41,300,713 (GRCm39)	missense	unknown
R7253:Ak9	UTSW	10	41,308,480 (GRCm39)	missense	unknown
R7286:Ak9	UTSW	10	41,283,367 (GRCm39)	missense
R7401:Ak9	UTSW	10	41,299,000 (GRCm39)	missense	unknown
R7478:Ak9	UTSW	10	41,265,087 (GRCm39)	missense
R7698:Ak9	UTSW	10	41,224,072 (GRCm39)	missense
R7758:Ak9	UTSW	10	41,223,128 (GRCm39)	missense
R7806:Ak9	UTSW	10	41,309,080 (GRCm39)	critical splice acceptor site	probably null
R7894:Ak9	UTSW	10	41,296,535 (GRCm39)	missense	unknown
R7929:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
R7941:Ak9	UTSW	10	41,285,133 (GRCm39)	missense	unknown
R8032:Ak9	UTSW	10	41,300,616 (GRCm39)	missense	unknown
R8143:Ak9	UTSW	10	41,213,588 (GRCm39)	nonsense	probably null
R8298:Ak9	UTSW	10	41,265,054 (GRCm39)	missense
R8301:Ak9	UTSW	10	41,300,712 (GRCm39)	missense
R8355:Ak9	UTSW	10	41,275,700 (GRCm39)	missense
R8703:Ak9	UTSW	10	41,201,120 (GRCm39)	missense
R8728:Ak9	UTSW	10	41,282,959 (GRCm39)	missense
R8757:Ak9	UTSW	10	41,299,036 (GRCm39)	missense	unknown
R8798:Ak9	UTSW	10	41,258,847 (GRCm39)	missense
R8868:Ak9	UTSW	10	41,258,869 (GRCm39)	nonsense	probably null
R8868:Ak9	UTSW	10	41,193,842 (GRCm39)	critical splice donor site	probably null
R9088:Ak9	UTSW	10	41,282,870 (GRCm39)	missense
R9090:Ak9	UTSW	10	41,300,623 (GRCm39)	missense	unknown
R9165:Ak9	UTSW	10	41,309,235 (GRCm39)	missense	unknown
R9195:Ak9	UTSW	10	41,283,479 (GRCm39)	missense
R9271:Ak9	UTSW	10	41,300,623 (GRCm39)	missense	unknown
R9297:Ak9	UTSW	10	41,299,081 (GRCm39)	missense	unknown
R9302:Ak9	UTSW	10	41,196,486 (GRCm39)	missense
R9309:Ak9	UTSW	10	41,192,364 (GRCm39)	critical splice donor site	probably null
R9318:Ak9	UTSW	10	41,299,081 (GRCm39)	missense	unknown
R9393:Ak9	UTSW	10	41,285,068 (GRCm39)	missense	unknown
R9541:Ak9	UTSW	10	41,243,173 (GRCm39)	missense
R9579:Ak9	UTSW	10	41,213,576 (GRCm39)	missense
R9618:Ak9	UTSW	10	41,203,627 (GRCm39)	missense
R9697:Ak9	UTSW	10	41,298,968 (GRCm39)	nonsense	probably null
R9753:Ak9	UTSW	10	41,259,496 (GRCm39)	missense
Z1176:Ak9	UTSW	10	41,299,019 (GRCm39)	missense	unknown
Z1176:Ak9	UTSW	10	41,224,247 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GAAACAGGGTGAAGCTGTCT -3'
(R):5'- CAGAGGTTGCTCTGTGAGGA -3'

Sequencing Primer
(F):5'- GAGAATGTTTTACACCTTCAACAGC -3'
(R):5'- AGGATGTCCTCTGGTCTTTATACTC -3'

Posted On

2017-02-10