Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Ak7'

345737

Institutional Source

Beutler Lab

Gene Symbol

Ak7

Ensembl Gene

ENSMUSG00000041323

Gene Name

adenylate kinase 7

Synonyms

4930502N02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105672235-105748706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105679834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 123 (V123M)

Ref Sequence

ENSEMBL: ENSMUSP00000043145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040876]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040876
AA Change: V123M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: V123M

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
Pfam:ADK	431	675	1.4e-9	PFAM
Pfam:Dpy-30	679	720	3.2e-23	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit hydrocephalus, rhinitis, sperm defects and most die before 8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clec14a	C	T	12: 58,314,767 (GRCm39)	R285H	probably benign	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e174	C	A	9: 20,012,540 (GRCm39)	H162N	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phactr1	A	T	13: 43,248,441 (GRCm39)	E463D	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

Other mutations in Ak7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ak7	APN	12	105,679,833 (GRCm39)	missense	probably benign	0.06
IGL01859:Ak7	APN	12	105,711,556 (GRCm39)	missense	probably null
IGL01939:Ak7	APN	12	105,701,183 (GRCm39)	missense	probably benign	0.06
IGL03233:Ak7	APN	12	105,727,739 (GRCm39)	missense	probably damaging	1.00
drizzle	UTSW	12	105,708,591 (GRCm39)	missense	probably damaging	1.00
R0453:Ak7	UTSW	12	105,682,307 (GRCm39)	missense	probably damaging	0.98
R0538:Ak7	UTSW	12	105,732,876 (GRCm39)	missense	probably damaging	1.00
R0619:Ak7	UTSW	12	105,699,770 (GRCm39)	missense	probably damaging	1.00
R0724:Ak7	UTSW	12	105,676,513 (GRCm39)	missense	probably benign	0.00
R1028:Ak7	UTSW	12	105,676,448 (GRCm39)	small deletion	probably benign
R1112:Ak7	UTSW	12	105,679,831 (GRCm39)	missense	probably benign
R1449:Ak7	UTSW	12	105,708,520 (GRCm39)	missense	possibly damaging	0.72
R1523:Ak7	UTSW	12	105,732,867 (GRCm39)	missense	probably benign	0.18
R1626:Ak7	UTSW	12	105,734,807 (GRCm39)	missense	probably benign	0.23
R1737:Ak7	UTSW	12	105,708,591 (GRCm39)	missense	probably damaging	1.00
R1795:Ak7	UTSW	12	105,692,482 (GRCm39)	nonsense	probably null
R1971:Ak7	UTSW	12	105,692,504 (GRCm39)	missense	probably damaging	0.98
R2020:Ak7	UTSW	12	105,711,591 (GRCm39)	splice site	probably null
R2267:Ak7	UTSW	12	105,713,473 (GRCm39)	missense	probably benign
R3918:Ak7	UTSW	12	105,676,515 (GRCm39)	missense	probably benign	0.03
R4600:Ak7	UTSW	12	105,679,834 (GRCm39)	missense	probably benign	0.00
R4601:Ak7	UTSW	12	105,679,834 (GRCm39)	missense	probably benign	0.00
R4610:Ak7	UTSW	12	105,679,834 (GRCm39)	missense	probably benign	0.00
R4611:Ak7	UTSW	12	105,679,834 (GRCm39)	missense	probably benign	0.00
R4612:Ak7	UTSW	12	105,727,772 (GRCm39)	missense	probably damaging	1.00
R4791:Ak7	UTSW	12	105,676,404 (GRCm39)	missense	probably benign	0.05
R5523:Ak7	UTSW	12	105,707,341 (GRCm39)	nonsense	probably null
R5911:Ak7	UTSW	12	105,692,471 (GRCm39)	missense	probably damaging	1.00
R6066:Ak7	UTSW	12	105,699,750 (GRCm39)	missense	possibly damaging	0.87
R6270:Ak7	UTSW	12	105,734,960 (GRCm39)	missense	probably benign
R6767:Ak7	UTSW	12	105,732,866 (GRCm39)	missense	probably damaging	0.98
R6960:Ak7	UTSW	12	105,676,503 (GRCm39)	missense	probably benign
R7016:Ak7	UTSW	12	105,747,938 (GRCm39)	nonsense	probably null
R7185:Ak7	UTSW	12	105,708,535 (GRCm39)	missense	probably damaging	1.00
R7187:Ak7	UTSW	12	105,711,532 (GRCm39)	missense	probably benign	0.00
R7204:Ak7	UTSW	12	105,708,502 (GRCm39)	missense	probably benign
R7724:Ak7	UTSW	12	105,682,289 (GRCm39)	missense	probably damaging	1.00
R7779:Ak7	UTSW	12	105,708,609 (GRCm39)	missense	probably benign	0.42
R7878:Ak7	UTSW	12	105,733,008 (GRCm39)	missense	probably damaging	1.00
R8375:Ak7	UTSW	12	105,708,600 (GRCm39)	missense	probably damaging	0.99
R8752:Ak7	UTSW	12	105,713,476 (GRCm39)	small deletion	probably benign
R8832:Ak7	UTSW	12	105,708,598 (GRCm39)	missense	possibly damaging	0.75
R8980:Ak7	UTSW	12	105,747,158 (GRCm39)	missense	probably benign	0.00
R9552:Ak7	UTSW	12	105,676,448 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGCAAAGGCTCCCTATGG -3'
(R):5'- AGGTCCATTCATTAGCACACAC -3'

Sequencing Primer
(F):5'- AAAGGCTCCCTATGGGACTC -3'
(R):5'- GAACTTTAGGCACTTCTCAGACCAG -3'

Posted On

2015-09-25