Mutagenetix > Incidental Mutation

Incidental Mutation 'R6050:Ak9'

483506

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

044218-MU

Accession Numbers

Essential gene?

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

Stock #

R6050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41265108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 955 (E955G)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173494
AA Change: E955G

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: E955G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177631

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ahdc1	A	G	4: 132,793,202 (GRCm39)	D1481G	possibly damaging	Het
Aox3	T	C	1: 58,219,814 (GRCm39)	F1138S	possibly damaging	Het
Bbs2	T	A	8: 94,819,160 (GRCm39)	N70Y	probably damaging	Het
BC048679	T	C	7: 81,145,339 (GRCm39)	I70V	possibly damaging	Het
Catspere2	G	A	1: 177,931,490 (GRCm39)	A470T	unknown	Het
Ccdc141	G	T	2: 76,842,075 (GRCm39)	A1452E	probably benign	Het
Celsr1	T	C	15: 85,814,812 (GRCm39)	D1883G	probably benign	Het
Clhc1	A	G	11: 29,511,397 (GRCm39)	I280M	possibly damaging	Het
Cmtr1	G	T	17: 29,901,108 (GRCm39)	K678N	probably damaging	Het
Daam2	T	C	17: 49,793,530 (GRCm39)	D329G	possibly damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Fcf1	G	A	12: 85,029,017 (GRCm39)	C154Y	probably damaging	Het
Frem2	T	C	3: 53,560,433 (GRCm39)	N1358S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtf3c3	T	C	1: 54,445,229 (GRCm39)	I608M	probably benign	Het
Gzf1	G	A	2: 148,526,158 (GRCm39)	D210N	possibly damaging	Het
Ift140	C	T	17: 25,309,979 (GRCm39)	R1129C	probably damaging	Het
Lias	A	G	5: 65,551,315 (GRCm39)	I83V	possibly damaging	Het
Mlh3	T	C	12: 85,287,620 (GRCm39)	T1342A	possibly damaging	Het
Mn1	A	G	5: 111,567,263 (GRCm39)	Y411C	probably damaging	Het
Mrps21	C	T	3: 95,770,200 (GRCm39)	R43H	probably benign	Het
Ncam2	C	T	16: 81,240,054 (GRCm39)	Q172*	probably null	Het
Notch3	T	C	17: 32,362,501 (GRCm39)	T1375A	probably benign	Het
Oga	A	C	19: 45,753,919 (GRCm39)	S652A	possibly damaging	Het
Ovol3	T	A	7: 29,933,819 (GRCm39)	Y101F	probably benign	Het
Pcbp4	T	C	9: 106,339,422 (GRCm39)	V45A	probably benign	Het
Plec	T	C	15: 76,072,458 (GRCm39)	E709G	probably damaging	Het
Prcc	G	A	3: 87,777,191 (GRCm39)	T261I	probably damaging	Het
Psg25	A	G	7: 18,260,403 (GRCm39)	V165A	probably benign	Het
Rfk	C	T	19: 17,376,896 (GRCm39)	P133S	probably benign	Het
Scaf8	C	T	17: 3,218,383 (GRCm39)	T251M	unknown	Het
Sec14l2	T	C	11: 4,061,477 (GRCm39)	D67G	probably benign	Het
Smtnl1	A	G	2: 84,641,797 (GRCm39)	I441T	probably damaging	Het
Tbce	C	T	13: 14,173,019 (GRCm39)	V471I	possibly damaging	Het
Tnip1	G	A	11: 54,808,703 (GRCm39)	R495C	probably damaging	Het
Trbv19	A	G	6: 41,155,944 (GRCm39)	K105R	probably benign	Het
Ttc5	T	A	14: 51,010,744 (GRCm39)	N229I	probably damaging	Het
Ush2a	T	C	1: 188,689,521 (GRCm39)	F5028L	probably benign	Het
Vmn2r24	T	C	6: 123,792,691 (GRCm39)	S673P	probably damaging	Het
Zfp780b	A	T	7: 27,663,727 (GRCm39)	I276N	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
R5858:Ak9	UTSW	10	41,299,023 (GRCm39)	missense	unknown
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
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'- CAGATAGAGTGTGTACCCACTGG -3'
(R):5'- CCAGATTGCATGCCAAAAGCTG -3'

Sequencing Primer
(F):5'- GAGGAAGATAGAATGGAATTCTCAC -3'
(R):5'- GAAACTTCCCTGTAACCC -3'

Posted On

2017-07-14