Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Ak9'

554317

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

045021-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R6847 (G1)

Quality Score

62.0073

Status

Validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

splice site (143 bp from exon)

DNA Base Change (assembly)

A to G at 41233797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173494]

AlphaFold

G3UYQ4

Predicted Effect

probably null
Transcript: ENSMUST00000173494

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415

Domain	Start	End	E-Value	Type
AAA	30	330	4.65e-3	SMART
AAA	391	733	9.11e-1	SMART
Pfam:DUF3508	812	971	1.4e-7	PFAM
AAA	974	1297	1.2e-1	SMART
Blast:AAA	1326	1388	8e-18	BLAST
AAA	1393	1824	1.44e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Casp3	C	T	8: 47,089,301 (GRCm39)	A183V	probably benign	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Meis3	A	G	7: 15,917,789 (GRCm39)	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
Or5b118	A	T	19: 13,448,402 (GRCm39)	I23F	probably benign	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pgp	T	C	17: 24,690,375 (GRCm39)	L267P	probably damaging	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prdm2	A	C	4: 142,859,520 (GRCm39)	S1257A	probably benign	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	Het

Other mutations in Ak9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Mean	UTSW	10	41,233,559 (GRCm39)	missense	possibly damaging	0.59
BB006:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
BB016:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
R0057:Ak9	UTSW	10	41,268,724 (GRCm39)	missense	probably benign	0.04
R0605:Ak9	UTSW	10	41,221,135 (GRCm39)	missense	probably damaging	1.00
R0658:Ak9	UTSW	10	41,223,218 (GRCm39)	missense	probably damaging	0.98
R1696:Ak9	UTSW	10	41,203,585 (GRCm39)	missense	possibly damaging	0.73
R1738:Ak9	UTSW	10	41,211,917 (GRCm39)	missense	possibly damaging	0.86
R1815:Ak9	UTSW	10	41,213,572 (GRCm39)	missense	probably damaging	1.00
R2900:Ak9	UTSW	10	41,300,751 (GRCm39)	missense	unknown
R3123:Ak9	UTSW	10	41,234,576 (GRCm39)	missense	possibly damaging	0.46
R3715:Ak9	UTSW	10	41,233,508 (GRCm39)	missense	probably damaging	0.96
R4092:Ak9	UTSW	10	41,265,140 (GRCm39)	missense	probably benign	0.29
R4193:Ak9	UTSW	10	41,211,941 (GRCm39)	missense	probably benign	0.14
R4598:Ak9	UTSW	10	41,259,907 (GRCm39)	missense	probably damaging	1.00
R4621:Ak9	UTSW	10	41,282,887 (GRCm39)	missense	possibly damaging	0.55
R4681:Ak9	UTSW	10	41,303,234 (GRCm39)	missense	unknown
R4707:Ak9	UTSW	10	41,221,456 (GRCm39)	missense	probably benign	0.36
R4908:Ak9	UTSW	10	41,296,678 (GRCm39)	missense	unknown
R4952:Ak9	UTSW	10	41,296,585 (GRCm39)	missense	probably benign	0.07
R5162:Ak9	UTSW	10	41,233,653 (GRCm39)	missense	probably damaging	1.00
R5446:Ak9	UTSW	10	41,296,505 (GRCm39)	missense	possibly damaging	0.70
R5494:Ak9	UTSW	10	41,223,165 (GRCm39)	missense	probably damaging	1.00
R5517:Ak9	UTSW	10	41,216,887 (GRCm39)	missense	probably benign	0.23
R5849:Ak9	UTSW	10	41,224,045 (GRCm39)	missense	probably benign	0.31
R5858:Ak9	UTSW	10	41,299,023 (GRCm39)	missense	unknown
R5920:Ak9	UTSW	10	41,296,672 (GRCm39)	missense	probably benign	0.30
R5952:Ak9	UTSW	10	41,233,559 (GRCm39)	missense	possibly damaging	0.59
R5955:Ak9	UTSW	10	41,234,560 (GRCm39)	missense	probably damaging	1.00
R6050:Ak9	UTSW	10	41,265,108 (GRCm39)	missense	possibly damaging	0.74
R6087:Ak9	UTSW	10	41,258,828 (GRCm39)	missense	probably benign	0.01
R6190:Ak9	UTSW	10	41,298,404 (GRCm39)	missense	unknown
R6190:Ak9	UTSW	10	41,298,403 (GRCm39)	missense	unknown
R6197:Ak9	UTSW	10	41,193,826 (GRCm39)	missense	probably damaging	0.98
R6220:Ak9	UTSW	10	41,246,095 (GRCm39)	missense	unknown
R6250:Ak9	UTSW	10	41,265,030 (GRCm39)	missense	possibly damaging	0.54
R6315:Ak9	UTSW	10	41,282,837 (GRCm39)	missense	possibly damaging	0.55
R6331:Ak9	UTSW	10	41,258,825 (GRCm39)	missense	probably damaging	0.99
R6812:Ak9	UTSW	10	41,243,163 (GRCm39)	missense	unknown
R7128:Ak9	UTSW	10	41,300,713 (GRCm39)	missense	unknown
R7253:Ak9	UTSW	10	41,308,480 (GRCm39)	missense	unknown
R7286:Ak9	UTSW	10	41,283,367 (GRCm39)	missense
R7401:Ak9	UTSW	10	41,299,000 (GRCm39)	missense	unknown
R7478:Ak9	UTSW	10	41,265,087 (GRCm39)	missense
R7698:Ak9	UTSW	10	41,224,072 (GRCm39)	missense
R7758:Ak9	UTSW	10	41,223,128 (GRCm39)	missense
R7806:Ak9	UTSW	10	41,309,080 (GRCm39)	critical splice acceptor site	probably null
R7894:Ak9	UTSW	10	41,296,535 (GRCm39)	missense	unknown
R7929:Ak9	UTSW	10	41,259,944 (GRCm39)	missense
R7941:Ak9	UTSW	10	41,285,133 (GRCm39)	missense	unknown
R8032:Ak9	UTSW	10	41,300,616 (GRCm39)	missense	unknown
R8143:Ak9	UTSW	10	41,213,588 (GRCm39)	nonsense	probably null
R8298:Ak9	UTSW	10	41,265,054 (GRCm39)	missense
R8301:Ak9	UTSW	10	41,300,712 (GRCm39)	missense
R8355:Ak9	UTSW	10	41,275,700 (GRCm39)	missense
R8703:Ak9	UTSW	10	41,201,120 (GRCm39)	missense
R8728:Ak9	UTSW	10	41,282,959 (GRCm39)	missense
R8757:Ak9	UTSW	10	41,299,036 (GRCm39)	missense	unknown
R8798:Ak9	UTSW	10	41,258,847 (GRCm39)	missense
R8868:Ak9	UTSW	10	41,258,869 (GRCm39)	nonsense	probably null
R8868:Ak9	UTSW	10	41,193,842 (GRCm39)	critical splice donor site	probably null
R9088:Ak9	UTSW	10	41,282,870 (GRCm39)	missense
R9090:Ak9	UTSW	10	41,300,623 (GRCm39)	missense	unknown
R9165:Ak9	UTSW	10	41,309,235 (GRCm39)	missense	unknown
R9195:Ak9	UTSW	10	41,283,479 (GRCm39)	missense
R9271:Ak9	UTSW	10	41,300,623 (GRCm39)	missense	unknown
R9297:Ak9	UTSW	10	41,299,081 (GRCm39)	missense	unknown
R9302:Ak9	UTSW	10	41,196,486 (GRCm39)	missense
R9309:Ak9	UTSW	10	41,192,364 (GRCm39)	critical splice donor site	probably null
R9318:Ak9	UTSW	10	41,299,081 (GRCm39)	missense	unknown
R9393:Ak9	UTSW	10	41,285,068 (GRCm39)	missense	unknown
R9541:Ak9	UTSW	10	41,243,173 (GRCm39)	missense
R9579:Ak9	UTSW	10	41,213,576 (GRCm39)	missense
R9618:Ak9	UTSW	10	41,203,627 (GRCm39)	missense
R9697:Ak9	UTSW	10	41,298,968 (GRCm39)	nonsense	probably null
R9753:Ak9	UTSW	10	41,259,496 (GRCm39)	missense
Z1176:Ak9	UTSW	10	41,299,019 (GRCm39)	missense	unknown
Z1176:Ak9	UTSW	10	41,224,247 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTCGAGAACTGTGGTTGTCC -3'
(R):5'- CAGCATTGACTCCACATTCAG -3'

Sequencing Primer
(F):5'- AAGCACTTCTACCTGATTTGGTTG -3'
(R):5'- TCCACATTCAGGATTGTACACAGGG -3'

Posted On

2019-05-20