Mutagenetix > Incidental Mutations

Incidental Mutation 'R6812:Ak9'

533856

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

LOC215946, Akd1, Gm7127, Akd2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R6812 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41303980-41434534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41367167 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 686 (M686L)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000173494
AA Change: M686L

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: M686L

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 97.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	C	T	16: 56,795,798		probably benign	Het
Ap3b1	A	T	13: 94,479,861	T757S	unknown	Het
Apob	A	T	12: 7,983,062	K139N	probably damaging	Het
Arid4a	A	G	12: 71,047,263	E270G	possibly damaging	Het
Atp1a2	A	T	1: 172,284,877	C515S	probably benign	Het
Bicd1	T	C	6: 149,409,537	Y37H	probably damaging	Het
Birc3	T	G	9: 7,854,417	D424A	probably damaging	Het
Ccdc97	A	T	7: 25,713,044	F324L	probably damaging	Het
Crim1	T	A	17: 78,315,600	I409N	probably damaging	Het
Cul7	T	A	17: 46,661,409	I1233N	probably benign	Het
Dcaf1	T	C	9: 106,858,069	S739P	probably damaging	Het
Ddb1	T	C	19: 10,622,499		probably null	Het
Dennd5b	T	C	6: 149,081,132		probably benign	Het
Dna2	A	G	10: 62,959,341	S464G	probably benign	Het
Dnah9	C	T	11: 65,981,329	V2692M	probably damaging	Het
Dvl2	T	C	11: 70,000,995	Y55H	probably damaging	Het
Eif4g3	G	T	4: 138,103,376	Q140H	probably damaging	Het
Enpp5	G	A	17: 44,085,576	V460M	probably benign	Het
Etv2	G	T	7: 30,634,001	C265*	probably null	Het
F12	T	C	13: 55,421,845	E146G	probably damaging	Het
Fdps	C	A	3: 89,094,476	E301D	possibly damaging	Het
Fsd2	G	T	7: 81,535,089	H686Q	probably benign	Het
Gk5	T	C	9: 96,150,749	S262P	probably damaging	Het
Gm20730	A	G	6: 43,081,788	V30A	probably benign	Het
Gpr68	C	A	12: 100,878,411	E291D	probably damaging	Het
Gucy2c	A	G	6: 136,697,995	V1006A	probably benign	Het
Itgb1	T	A	8: 128,705,410		probably null	Het
Kif2a	A	T	13: 106,969,751	D570E	probably benign	Het
Krt8	G	T	15: 101,997,979	A365D	probably damaging	Het
Lias	T	A	5: 65,408,789	V373E	possibly damaging	Het
Mpl	A	G	4: 118,455,264	V169A	probably benign	Het
Myh3	T	A	11: 67,086,402	I319N	probably damaging	Het
Myrfl	T	A	10: 116,832,913	K315I	probably damaging	Het
Nrap	T	C	19: 56,351,676	D803G	probably damaging	Het
Olfr1475	T	C	19: 13,479,611	T196A	probably benign	Het
Pald1	A	G	10: 61,342,922	S536P	possibly damaging	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Prkaa2	T	A	4: 105,047,152	T243S	probably benign	Het
Prrc2b	T	A	2: 32,213,141	V877D	probably benign	Het
Rbm27	T	A	18: 42,333,403		probably null	Het
Rbm48	A	G	5: 3,596,105	V33A	probably benign	Het
Rev3l	G	T	10: 39,823,548	R1347L	probably benign	Het
Rnf219	A	G	14: 104,510,432	V40A	unknown	Het
Rtp3	A	G	9: 110,987,112	F124L	probably benign	Het
Ryr3	C	T	2: 112,946,906	G302D	probably damaging	Het
Scnn1a	A	G	6: 125,337,856	N314S	probably benign	Het
Sik3	C	T	9: 46,210,769	R907W	probably damaging	Het
Sox5	C	T	6: 144,116,443		probably null	Het
Tmc1	A	C	19: 20,900,861	L90R	probably damaging	Het
Tmtc2	A	G	10: 105,413,269	V201A	probably benign	Het
Uvrag	T	A	7: 98,888,482	H502L	probably benign	Het
Vwa8	T	A	14: 79,197,419	I1760N	probably damaging	Het
Zfp318	G	GAAGAAT	17: 46,412,542		probably benign	Het
Zfp772	T	C	7: 7,206,308	D61G	possibly damaging	Het

Other mutations in Ak9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Mean	UTSW	10	41357563	missense	possibly damaging	0.59
R0057:Ak9	UTSW	10	41392728	missense	probably benign	0.04
R0605:Ak9	UTSW	10	41345139	missense	probably damaging	1.00
R0658:Ak9	UTSW	10	41347222	missense	probably damaging	0.98
R1696:Ak9	UTSW	10	41327589	missense	possibly damaging	0.73
R1738:Ak9	UTSW	10	41335921	missense	possibly damaging	0.86
R1815:Ak9	UTSW	10	41337576	missense	probably damaging	1.00
R2900:Ak9	UTSW	10	41424755	missense	unknown
R3123:Ak9	UTSW	10	41358580	missense	possibly damaging	0.46
R3715:Ak9	UTSW	10	41357512	missense	probably damaging	0.96
R4092:Ak9	UTSW	10	41389144	missense	probably benign	0.29
R4193:Ak9	UTSW	10	41335945	missense	probably benign	0.14
R4598:Ak9	UTSW	10	41383911	missense	probably damaging	1.00
R4621:Ak9	UTSW	10	41406891	missense	possibly damaging	0.55
R4681:Ak9	UTSW	10	41427238	missense	unknown
R4707:Ak9	UTSW	10	41345460	missense	probably benign	0.36
R4908:Ak9	UTSW	10	41420682	missense	unknown
R4952:Ak9	UTSW	10	41420589	missense	probably benign	0.07
R5162:Ak9	UTSW	10	41357657	missense	probably damaging	1.00
R5446:Ak9	UTSW	10	41420509	missense	possibly damaging	0.70
R5494:Ak9	UTSW	10	41347169	missense	probably damaging	1.00
R5517:Ak9	UTSW	10	41340891	missense	probably benign	0.23
R5849:Ak9	UTSW	10	41348049	missense	probably benign	0.31
R5858:Ak9	UTSW	10	41423027	missense	unknown
R5920:Ak9	UTSW	10	41420676	missense	probably benign	0.30
R5952:Ak9	UTSW	10	41357563	missense	possibly damaging	0.59
R5955:Ak9	UTSW	10	41358564	missense	probably damaging	1.00
R6050:Ak9	UTSW	10	41389112	missense	possibly damaging	0.74
R6087:Ak9	UTSW	10	41382832	missense	probably benign	0.01
R6190:Ak9	UTSW	10	41422407	missense	unknown
R6190:Ak9	UTSW	10	41422408	missense	unknown
R6197:Ak9	UTSW	10	41317830	missense	probably damaging	0.98
R6220:Ak9	UTSW	10	41370099	missense	unknown
R6250:Ak9	UTSW	10	41389034	missense	possibly damaging	0.54
R6315:Ak9	UTSW	10	41406841	missense	possibly damaging	0.55
R6331:Ak9	UTSW	10	41382829	missense	probably damaging	0.99
R6847:Ak9	UTSW	10	41357801	intron	probably null
R7128:Ak9	UTSW	10	41424717	missense	unknown
R7253:Ak9	UTSW	10	41432484	missense	unknown
R7286:Ak9	UTSW	10	41407371	missense
R7401:Ak9	UTSW	10	41423004	missense	unknown
R7478:Ak9	UTSW	10	41389091	missense
R7698:Ak9	UTSW	10	41348076	missense

Predicted Primers

PCR Primer
(F):5'- CAGTGTAACAGCTCACCTGACC -3'
(R):5'- TGGAAATCAGAACACTTTGGGG -3'

Sequencing Primer
(F):5'- CACTGCGATAAAGTTGTTCATTTC -3'
(R):5'- CTTTGGGGATGAAAAGTGCAGGC -3'

Posted On

2018-09-12