Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Ak7'

507289

Institutional Source

Beutler Lab

Gene Symbol

Ak7

Ensembl Gene

ENSMUSG00000041323

Gene Name

adenylate kinase 7

Synonyms

4930502N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105705976-105782447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105768701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 642 (H642R)

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: H642R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: H642R

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,421	D65G	probably damaging	Het
Acsl6	A	G	11: 54,352,107	E648G	probably benign	Het
Akap11	T	C	14: 78,518,799	E53G	probably damaging	Het
Ddr2	T	G	1: 169,988,540	T533P	probably benign	Het
Dhx40	A	G	11: 86,799,605	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,392,269		probably benign	Het
Eng	A	G	2: 32,673,643	D347G	probably benign	Het
Esrra	C	T	19: 6,914,120		probably null	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fap	T	C	2: 62,547,788	I159V	probably damaging	Het
Fn1	C	T	1: 71,637,275	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,757,463	V395A	probably damaging	Het
Foxn3	T	C	12: 99,388,417	R163G	probably damaging	Het
Gphn	T	G	12: 78,522,950	L306R	probably benign	Het
Gse1	T	C	8: 120,569,163		probably benign	Het
Habp2	A	G	19: 56,306,863	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,808,495		probably null	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Kit	A	G	5: 75,609,509	T194A	probably benign	Het
Krt16	C	A	11: 100,247,203	A316S	possibly damaging	Het
Krt7	A	G	15: 101,419,558	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,273,351	Y77*	probably null	Het
Lrrc18	A	T	14: 33,009,121	M206L	probably benign	Het
Magel2	C	A	7: 62,380,658	C1103*	probably null	Het
Mcf2l	T	C	8: 13,018,701	V1058A	probably damaging	Het
Nbas	G	A	12: 13,324,293	A541T	probably damaging	Het
Nrap	C	T	19: 56,320,198	M1485I	probably benign	Het
Nudt18	T	C	14: 70,579,390	Y145H	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,419	C97S	probably damaging	Het
Olfr583	T	C	7: 103,051,331	L11P	probably benign	Het
Olfr623	T	C	7: 103,660,413	Y279C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,436,785	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,158,436	W431R	probably damaging	Het
Pga5	T	C	19: 10,674,861	E139G	probably benign	Het
Pkdrej	G	T	15: 85,821,105	S210*	probably null	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Sema3d	A	T	5: 12,448,107	M27L	probably benign	Het
Serinc5	T	C	13: 92,688,662	S200P	probably damaging	Het
Sf3b3	T	C	8: 110,841,820	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,517,554		probably null	Het
Tcaf3	T	C	6: 42,593,791	I342M	probably benign	Het
Tenm3	G	A	8: 48,367,394	T136M	probably damaging	Het
Tet3	T	C	6: 83,375,791	T1008A	possibly damaging	Het
Tgif1	T	C	17: 70,844,866		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,649,866	D81G	probably benign	Het
Trpv5	T	A	6: 41,674,359	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,800,388	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,194,325	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,293,815	I847V	probably benign	Het
Zfp474	A	G	18: 52,638,364	T30A	probably benign	Het
Zswim4	C	T	8: 84,230,951	V163M	probably damaging	Het

Other mutations in Ak7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ak7	APN	12	105713574	missense	probably benign	0.06
IGL01859:Ak7	APN	12	105745297	missense	probably null
IGL01939:Ak7	APN	12	105734924	missense	probably benign	0.06
IGL03233:Ak7	APN	12	105761480	missense	probably damaging	1.00
drizzle	UTSW	12	105742332	missense	probably damaging	1.00
R0453:Ak7	UTSW	12	105716048	missense	probably damaging	0.98
R0538:Ak7	UTSW	12	105766617	missense	probably damaging	1.00
R0619:Ak7	UTSW	12	105733511	missense	probably damaging	1.00
R0724:Ak7	UTSW	12	105710254	missense	probably benign	0.00
R1028:Ak7	UTSW	12	105710189	small deletion	probably benign
R1112:Ak7	UTSW	12	105713572	missense	probably benign
R1449:Ak7	UTSW	12	105742261	missense	possibly damaging	0.72
R1523:Ak7	UTSW	12	105766608	missense	probably benign	0.18
R1626:Ak7	UTSW	12	105768548	missense	probably benign	0.23
R1737:Ak7	UTSW	12	105742332	missense	probably damaging	1.00
R1795:Ak7	UTSW	12	105726223	nonsense	probably null
R1971:Ak7	UTSW	12	105726245	missense	probably damaging	0.98
R2020:Ak7	UTSW	12	105745332	splice site	probably null
R2267:Ak7	UTSW	12	105747214	missense	probably benign
R3918:Ak7	UTSW	12	105710256	missense	probably benign	0.03
R4600:Ak7	UTSW	12	105713575	missense	probably benign	0.00
R4601:Ak7	UTSW	12	105713575	missense	probably benign	0.00
R4602:Ak7	UTSW	12	105713575	missense	probably benign	0.00
R4610:Ak7	UTSW	12	105713575	missense	probably benign	0.00
R4611:Ak7	UTSW	12	105713575	missense	probably benign	0.00
R4612:Ak7	UTSW	12	105761513	missense	probably damaging	1.00
R4791:Ak7	UTSW	12	105710145	missense	probably benign	0.05
R5523:Ak7	UTSW	12	105741082	nonsense	probably null
R5911:Ak7	UTSW	12	105726212	missense	probably damaging	1.00
R6066:Ak7	UTSW	12	105733491	missense	possibly damaging	0.87
R6767:Ak7	UTSW	12	105766607	missense	probably damaging	0.98
R6960:Ak7	UTSW	12	105710244	missense	probably benign
R7016:Ak7	UTSW	12	105781679	nonsense	probably null
R7185:Ak7	UTSW	12	105742276	missense	probably damaging	1.00
R7187:Ak7	UTSW	12	105745273	missense	probably benign	0.00
R7204:Ak7	UTSW	12	105742243	missense	probably benign
R7724:Ak7	UTSW	12	105716030	missense	probably damaging	1.00
R7779:Ak7	UTSW	12	105742350	missense	probably benign	0.42
R7878:Ak7	UTSW	12	105766749	missense	probably damaging	1.00
R8375:Ak7	UTSW	12	105742341	missense	probably damaging	0.99
R8752:Ak7	UTSW	12	105747217	small deletion	probably benign
R8832:Ak7	UTSW	12	105742339	missense	possibly damaging	0.75
R8980:Ak7	UTSW	12	105780899	missense	probably benign	0.00
R9552:Ak7	UTSW	12	105710189	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGATCCATGTGCAGATTG -3'
(R):5'- GCCCGTATCATGGACACTAATGG -3'

Sequencing Primer
(F):5'- TTGAAGACGCCCAGAACA -3'
(R):5'- ACACTAATGGACAGTGGTACTC -3'

Posted On

2018-03-15