Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Ak8'

500430

Institutional Source

Beutler Lab

Gene Symbol

Ak8

Ensembl Gene

ENSMUSG00000026807

Gene Name

adenylate kinase 8

Synonyms

1190002A17Rik

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R2872 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

28590176-28703177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28632732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 317 (I317T)

Ref Sequence

ENSEMBL: ENSMUSP00000073789 (fasta)

Gene Model

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

AlphaFold

Q32M07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074156
AA Change: I317T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: I317T

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

noncoding transcript
Transcript: ENSMUST00000137588

Meta Mutation Damage Score

0.4670

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het

Other mutations in Ak8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Ak8	APN	2	28,632,729 (GRCm39)	missense	probably damaging	0.96
IGL01630:Ak8	APN	2	28,602,291 (GRCm39)	missense	probably benign	0.01
IGL02350:Ak8	APN	2	28,590,225 (GRCm39)	missense	probably benign	0.00
IGL02357:Ak8	APN	2	28,590,225 (GRCm39)	missense	probably benign	0.00
IGL02363:Ak8	APN	2	28,702,910 (GRCm39)	missense	probably damaging	0.96
IGL03061:Ak8	APN	2	28,632,767 (GRCm39)	splice site	probably benign
IGL03230:Ak8	APN	2	28,599,935 (GRCm39)	splice site	probably benign
even-steven	UTSW	2	28,599,957 (GRCm39)	nonsense	probably null
R0418:Ak8	UTSW	2	28,623,868 (GRCm39)	missense	possibly damaging	0.69
R0631:Ak8	UTSW	2	28,625,677 (GRCm39)	missense	probably damaging	1.00
R1511:Ak8	UTSW	2	28,632,758 (GRCm39)	missense	probably benign
R1706:Ak8	UTSW	2	28,650,007 (GRCm39)	missense	possibly damaging	0.94
R1778:Ak8	UTSW	2	28,602,333 (GRCm39)	missense	probably benign	0.03
R2872:Ak8	UTSW	2	28,632,732 (GRCm39)	missense	possibly damaging	0.96
R3885:Ak8	UTSW	2	28,623,897 (GRCm39)	missense	possibly damaging	0.94
R4732:Ak8	UTSW	2	28,650,083 (GRCm39)	missense	probably damaging	0.98
R4733:Ak8	UTSW	2	28,650,083 (GRCm39)	missense	probably damaging	0.98
R6339:Ak8	UTSW	2	28,624,460 (GRCm39)	splice site	probably null
R6351:Ak8	UTSW	2	28,625,638 (GRCm39)	missense	probably benign	0.02
R6751:Ak8	UTSW	2	28,599,957 (GRCm39)	nonsense	probably null
R7320:Ak8	UTSW	2	28,703,004 (GRCm39)	missense	probably damaging	1.00
R7330:Ak8	UTSW	2	28,702,947 (GRCm39)	missense	possibly damaging	0.73
R7787:Ak8	UTSW	2	28,602,324 (GRCm39)	missense	probably damaging	1.00
R8005:Ak8	UTSW	2	28,602,314 (GRCm39)	missense	probably benign	0.01
R8412:Ak8	UTSW	2	28,629,643 (GRCm39)	missense	probably benign
R8870:Ak8	UTSW	2	28,625,602 (GRCm39)	missense	probably benign	0.26
R9400:Ak8	UTSW	2	28,650,011 (GRCm39)	missense	probably benign	0.29
X0018:Ak8	UTSW	2	28,624,409 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTCTGGCAAATGCATTCC -3'
(R):5'- ACAGTCAGTGACTCACCTGG -3'

Sequencing Primer
(F):5'- GGCAAATGCATTCCTTTTCATTC -3'
(R):5'- AGTGACTCACCTGGCACGG -3'

Posted On

2017-12-01