Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Ak7'

345561

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 #

R4600 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	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
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sult1c2	C	A	17: 54,280,983 (GRCm39)	W40L	probably benign	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	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
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
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'- AGAGAGCAGAGATTTCAGTTGC -3'
(R):5'- GGCACTTCTCAGACCAGTTC -3'

Sequencing Primer
(F):5'- AAGTACTTCTGCAAAGGCTCCCTATG -3'
(R):5'- AGTTCTTCTGGGACTCTCAAAG -3'

Posted On

2015-09-25