Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Ak8'

290576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ak8

Ensembl Gene

ENSMUSG00000026807

Gene Name

adenylate kinase 8

Synonyms

1190002A17Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

28700164-28813165 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28700213 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 8 (H8L)

Ref Sequence

ENSEMBL: ENSMUSP00000073789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074156] [ENSMUST00000102877] [ENSMUST00000124840]

Predicted Effect

probably benign
Transcript: ENSMUST00000074156
AA Change: H8L

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

SMART Domains

Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: H8L

Domain	Start	End	E-Value	Type
Pfam:AAA_33	60	186	6.2e-8	PFAM
Pfam:AAA_18	60	191	2.3e-9	PFAM
Pfam:ADK	62	237	5.5e-16	PFAM
Pfam:ADK	273	452	1.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102877

SMART Domains

Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	166	1.5e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123794

Predicted Effect

probably benign
Transcript: ENSMUST00000124840

SMART Domains

Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	167	4.1e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145014

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit mild hydrocephalus, dilation of the lateral brain ventricles and reduced size of the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Ak8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Ak8	APN	2	28742717	missense	probably damaging	0.96
IGL01630:Ak8	APN	2	28712279	missense	probably benign	0.01
IGL02350:Ak8	APN	2	28700213	missense	probably benign	0.00
IGL02363:Ak8	APN	2	28812898	missense	probably damaging	0.96
IGL03061:Ak8	APN	2	28742755	splice site	probably benign
IGL03230:Ak8	APN	2	28709923	splice site	probably benign
even-steven	UTSW	2	28709945	nonsense	probably null
R0418:Ak8	UTSW	2	28733856	missense	possibly damaging	0.69
R0631:Ak8	UTSW	2	28735665	missense	probably damaging	1.00
R1511:Ak8	UTSW	2	28742746	missense	probably benign
R1706:Ak8	UTSW	2	28759995	missense	possibly damaging	0.94
R1778:Ak8	UTSW	2	28712321	missense	probably benign	0.03
R2872:Ak8	UTSW	2	28742720	missense	possibly damaging	0.96
R2872:Ak8	UTSW	2	28742720	missense	possibly damaging	0.96
R3885:Ak8	UTSW	2	28733885	missense	possibly damaging	0.94
R4732:Ak8	UTSW	2	28760071	missense	probably damaging	0.98
R4733:Ak8	UTSW	2	28760071	missense	probably damaging	0.98
R6339:Ak8	UTSW	2	28734448	splice site	probably null
R6351:Ak8	UTSW	2	28735626	missense	probably benign	0.02
R6751:Ak8	UTSW	2	28709945	nonsense	probably null
R7320:Ak8	UTSW	2	28812992	missense	probably damaging	1.00
R7330:Ak8	UTSW	2	28812935	missense	possibly damaging	0.73
R7787:Ak8	UTSW	2	28712312	missense	probably damaging	1.00
X0018:Ak8	UTSW	2	28734397	missense	probably damaging	1.00

Posted On

2015-04-16