Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Ak9'

476165

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

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

Stock #

R3715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41233508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 582 (D582G)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000173494
AA Change: D582G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: D582G

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

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
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	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
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
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

Posted On

2017-05-11