Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Ak9'

55663

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

LOC215946, Akd1, Gm7127, Akd2

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41303980-41434534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41345139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 322 (Y322H)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000173494
AA Change: Y322H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: Y322H

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 damaging
Transcript: ENSMUST00000173517
AA Change: Y322H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134344
Gene: ENSMUSG00000091415
AA Change: Y322H

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

0.1830

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	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
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
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'- GAGTATAAAGCACAAAGTGGCCCCT -3'
(R):5'- GGCAGCTTTGAAATGTAAGCTCTGAC -3'

Sequencing Primer
(F):5'- ccacaacattctatttcctgacc -3'
(R):5'- TGTAAGCTCTGACAAGCTAACTAAC -3'

Posted On

2013-07-11