Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Ak7'

344869

Institutional Source

Beutler Lab

Gene Symbol

Ak7

Ensembl Gene

ENSMUSG00000041323

Gene Name

adenylate kinase 7

Synonyms

4930502N02Rik

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105672235-105748706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105727772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 468 (L468R)

Ref Sequence

ENSEMBL: ENSMUSP00000043145 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040876
AA Change: L468R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: L468R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	Het

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
R4602: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
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'- GAATGCGTGTCTTCTACAGCC -3'
(R):5'- TGGGCAAATATTTCCCCAACAGTG -3'

Sequencing Primer
(F):5'- TACAGCCTGCCTGCCCAC -3'
(R):5'- TATTTCCCCAACAGTGAGACTATACG -3'

Posted On

2015-09-25