Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Ak9'

431361

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

LOC215946, Akd1, Gm7127, Akd2

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41303980-41434534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41340891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 283 (E283G)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000173494
AA Change: E283G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: E283G

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

probably benign
Transcript: ENSMUST00000173517
AA Change: E283G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134344
Gene: ENSMUSG00000091415
AA Change: E283G

Domain	Start	End	E-Value	Type
AAA	30	330	4.65e-3	SMART
low complexity region	378	392	N/A	INTRINSIC
internal_repeat_1	397	436	8.49e-5	PROSPERO
low complexity region	488	499	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Aire	A	T	10: 78,039,691	S282T	probably benign	Het
Akap2	T	C	4: 57,855,987	Y439H	probably damaging	Het
Akap9	T	A	5: 4,001,665	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,906,981	D273G	possibly damaging	Het
Apob	T	C	12: 7,990,906	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,563,489	F550L	probably damaging	Het
Armc2	T	C	10: 41,963,850	E373G	probably benign	Het
Atp8b2	C	A	3: 89,946,031	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,255,887	Q87L	probably damaging	Het
Cd244	T	A	1: 171,577,974		probably benign	Het
Cdk10	T	A	8: 123,230,587		probably null	Het
Cenpe	C	A	3: 135,223,265	P310Q	probably damaging	Het
Chuk	T	A	19: 44,097,533		probably null	Het
Crebl2	T	C	6: 134,851,176	S104P	probably benign	Het
Ddo	A	G	10: 40,647,730	K239E	probably benign	Het
Defb5	A	G	8: 19,250,852		probably null	Het
Dhx35	T	A	2: 158,834,912	M422K	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gatm	G	A	2: 122,595,543	T409I	probably damaging	Het
Gdpd1	A	T	11: 87,059,506	D80E	probably damaging	Het
Gspt1	C	A	16: 11,253,979	G7C	unknown	Het
Hells	G	A	19: 38,954,800	S516N	probably benign	Het
Ints1	A	G	5: 139,752,787	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,774,881	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,715,809	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954	A385S	probably benign	Het
Map2	T	C	1: 66,415,256	S1102P	probably benign	Het
Mcm7	A	G	5: 138,164,871	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,246,995	R246H	possibly damaging	Het
Myo16	T	A	8: 10,560,226	M1189K	probably benign	Het
Olfr1302	G	T	2: 111,780,459	M46I	probably benign	Het
Olfr463	A	T	11: 87,893,066	I286N	probably damaging	Het
Olfr847	G	A	9: 19,375,767	T38I	probably damaging	Het
Otog	A	G	7: 46,274,571	N1118S	probably damaging	Het
Pcdhb7	G	T	18: 37,341,793		probably benign	Het
Picalm	C	T	7: 90,170,598	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,124,786	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,458,312	S745L	probably benign	Het
Rspry1	G	A	8: 94,636,760		probably null	Het
Scn5a	T	G	9: 119,495,713	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,997,835	L121P	probably damaging	Het
Slc17a1	A	T	13: 23,872,592		probably benign	Het
Slc6a12	A	G	6: 121,354,339	N183S	probably benign	Het
Smg9	C	A	7: 24,414,913		probably benign	Het
Spred1	G	A	2: 117,177,714	S367N	probably damaging	Het
Srpr	T	C	9: 35,211,350	V21A	probably benign	Het
Taar2	A	T	10: 23,940,729	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,395,985	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 127,198,607	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,336,114	N1044K	probably benign	Het
Usp24	A	G	4: 106,375,674	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,050,717	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,204,746	N286S	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
BB006:Ak9	UTSW	10	41383948	missense
BB016:Ak9	UTSW	10	41383948	missense
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
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
R6812:Ak9	UTSW	10	41367167	missense	unknown
R6847:Ak9	UTSW	10	41357801	splice site	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
R7758:Ak9	UTSW	10	41347132	missense
R7806:Ak9	UTSW	10	41433084	critical splice acceptor site	probably null
R7894:Ak9	UTSW	10	41420539	missense	unknown
R7929:Ak9	UTSW	10	41383948	missense
R7941:Ak9	UTSW	10	41409137	missense	unknown
R8032:Ak9	UTSW	10	41424620	missense	unknown
R8143:Ak9	UTSW	10	41337592	nonsense	probably null
R8298:Ak9	UTSW	10	41389058	missense
R8301:Ak9	UTSW	10	41424716	missense
R8355:Ak9	UTSW	10	41399704	missense
R8703:Ak9	UTSW	10	41325124	missense
R8728:Ak9	UTSW	10	41406963	missense
R8757:Ak9	UTSW	10	41423040	missense	unknown
R8798:Ak9	UTSW	10	41382851	missense
R8868:Ak9	UTSW	10	41317846	critical splice donor site	probably null
R8868:Ak9	UTSW	10	41382873	nonsense	probably null
R9088:Ak9	UTSW	10	41406874	missense
R9090:Ak9	UTSW	10	41424627	missense	unknown
R9165:Ak9	UTSW	10	41433239	missense	unknown
R9195:Ak9	UTSW	10	41407483	missense
R9271:Ak9	UTSW	10	41424627	missense	unknown
R9297:Ak9	UTSW	10	41423085	missense	unknown
R9302:Ak9	UTSW	10	41320490	missense
R9309:Ak9	UTSW	10	41316368	critical splice donor site	probably null
R9318:Ak9	UTSW	10	41423085	missense	unknown
R9393:Ak9	UTSW	10	41409072	missense	unknown
R9541:Ak9	UTSW	10	41367177	missense
R9579:Ak9	UTSW	10	41337580	missense
R9618:Ak9	UTSW	10	41327631	missense
R9697:Ak9	UTSW	10	41422972	nonsense	probably null
R9753:Ak9	UTSW	10	41383500	missense
Z1176:Ak9	UTSW	10	41348251	missense
Z1176:Ak9	UTSW	10	41423023	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACACCAACAAGCTGAGCTGT -3'
(R):5'- AGCTATCCCTTAGATCCTAGGAGAT -3'

Sequencing Primer
(F):5'- atgtaagacattataagcataatac -3'
(R):5'- CCCTTAGATCCTAGGAGATGACGTG -3'

Posted On

2016-10-05