Mutagenetix > Incidental Mutation

Incidental Mutation 'R4681:Ak9'

350036

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

042015-MU

Accession Numbers

Essential gene?

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

Stock #

R4681 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41303234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 1669 (K1669T)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000173494
AA Change: K1669T

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: K1669T

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	G	T	1: 179,580,361 (GRCm39)	T1947K	probably benign	Het
Atp4b	T	C	8: 13,439,700 (GRCm39)	E174G	probably benign	Het
Bcl6	A	G	16: 23,787,203 (GRCm39)		probably benign	Het
Brca2	C	G	5: 150,475,863 (GRCm39)		probably null	Het
Btnl4	A	T	17: 34,689,075 (GRCm39)		probably null	Het
C4a	G	T	17: 35,036,075 (GRCm39)		noncoding transcript	Het
Cab39l	A	G	14: 59,737,054 (GRCm39)	D58G	probably benign	Het
Cacna2d3	A	T	14: 29,015,092 (GRCm39)	M100K	probably damaging	Het
Car2	T	A	3: 14,960,624 (GRCm39)	Y127*	probably null	Het
Cdhr1	T	C	14: 36,818,194 (GRCm39)	N86S	probably benign	Het
Celsr3	A	G	9: 108,704,953 (GRCm39)	I479V	possibly damaging	Het
Cfhr1	A	T	1: 139,478,667 (GRCm39)	Y53*	probably null	Het
Cgrrf1	A	G	14: 47,091,283 (GRCm39)	E269G	probably benign	Het
Cimap3	C	A	3: 105,905,701 (GRCm39)	G148C	probably damaging	Het
Clcn7	A	T	17: 25,376,935 (GRCm39)	H636L	probably damaging	Het
Cox10	T	G	11: 63,867,277 (GRCm39)	T240P	possibly damaging	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dbt	A	G	3: 116,326,963 (GRCm39)	D104G	probably damaging	Het
F730035P03Rik	T	C	7: 99,429,425 (GRCm39)		noncoding transcript	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186b	T	C	15: 99,178,771 (GRCm39)	K185R	probably benign	Het
Fat4	T	C	3: 38,941,491 (GRCm39)	L128P	probably damaging	Het
Gbf1	A	T	19: 46,268,989 (GRCm39)	Q1381L	probably benign	Het
Glp2r	C	T	11: 67,621,453 (GRCm39)		probably null	Het
Gm18025	A	G	12: 34,340,884 (GRCm39)	S70P	probably benign	Het
Gpr45	A	G	1: 43,072,068 (GRCm39)	D237G	probably benign	Het
Hectd4	A	T	5: 121,441,678 (GRCm39)	L1213F	possibly damaging	Het
Hydin	T	C	8: 111,233,103 (GRCm39)	V1734A	possibly damaging	Het
Kcnh5	A	T	12: 75,054,397 (GRCm39)	S516T	probably benign	Het
Liph	A	C	16: 21,802,777 (GRCm39)	S97R	probably benign	Het
Mtcl1	T	C	17: 66,756,139 (GRCm39)	T68A	unknown	Het
Nsun7	T	A	5: 66,418,542 (GRCm39)	S91T	probably benign	Het
Or5an10	T	C	19: 12,276,413 (GRCm39)	T28A	probably benign	Het
Or6c75	A	G	10: 129,337,433 (GRCm39)	I227V	probably damaging	Het
Pcdh20	A	T	14: 88,705,052 (GRCm39)	N749K	probably damaging	Het
Pot1b	A	T	17: 55,961,831 (GRCm39)	D582E	probably benign	Het
Pxdn	T	C	12: 30,062,325 (GRCm39)	I1212T	probably benign	Het
Ramp1	T	C	1: 91,124,511 (GRCm39)	V24A	probably benign	Het
S100a8	T	A	3: 90,576,890 (GRCm39)	D14E	probably benign	Het
Stk31	A	G	6: 49,414,369 (GRCm39)	D501G	probably benign	Het
Tbc1d19	G	A	5: 54,029,595 (GRCm39)	V319M	probably damaging	Het
Tbcel	G	T	9: 42,361,268 (GRCm39)	H93Q	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Trpm8	A	T	1: 88,312,427 (GRCm39)	I1103F	possibly damaging	Het
Ttc19	T	A	11: 62,199,917 (GRCm39)	C112*	probably null	Het
Unc5c	T	G	3: 141,474,374 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vmn2r15	T	A	5: 109,434,488 (GRCm39)	I739F	probably damaging	Het
Zcchc14	G	T	8: 122,335,339 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,476,131 (GRCm39)	P341L	probably damaging	Het
Zfp638	G	A	6: 83,958,719 (GRCm39)	V1166M	possibly 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
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
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'- CACCCCAGTCCTTATTGTAGG -3'
(R):5'- GACAAGTGTGAGAACCCACC -3'

Sequencing Primer
(F):5'- ACCCCAGTCCTTATTGTAGGATAGG -3'
(R):5'- AAGTGTGAGAACCCACCTTTGTTTTC -3'

Posted On

2015-10-08