Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:Ak9'

649060

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

Gm7127, Akd2, Akd1, LOC215946

MMRRC Submission

045987-MU

Accession Numbers

Essential gene?

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

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41179433-41309565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41285133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1403 (P1403S)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000173494
AA Change: P1403S

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: P1403S

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

Meta Mutation Damage Score

0.2009

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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
Abl1	T	C	2: 31,579,691 (GRCm39)		probably benign	Het
AI467606	A	G	7: 126,691,593 (GRCm39)	E56G	probably damaging	Het
Akr1c14	A	G	13: 4,109,713 (GRCm39)	K28E	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Anks1b	A	T	10: 90,413,017 (GRCm39)	N55I	probably damaging	Het
Cabyr	T	C	18: 12,877,825 (GRCm39)	L54P	probably damaging	Het
Cachd1	A	T	4: 100,845,370 (GRCm39)	N954I	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Chst10	T	A	1: 38,910,772 (GRCm39)	I131L	probably damaging	Het
Cluh	A	T	11: 74,550,583 (GRCm39)	M270L	probably benign	Het
Dagla	T	C	19: 10,248,867 (GRCm39)	H29R	probably damaging	Het
Dusp5	A	G	19: 53,525,964 (GRCm39)	N202S	probably benign	Het
Elavl3	A	G	9: 21,947,612 (GRCm39)	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,045,885 (GRCm39)	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,699 (GRCm39)	L316P	probably damaging	Het
Gad1	T	A	2: 70,424,929 (GRCm39)		probably null	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hmcn1	A	G	1: 150,525,835 (GRCm39)	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,455,299 (GRCm39)	F203S	probably damaging	Het
Il16	T	A	7: 83,332,037 (GRCm39)	D181V	probably damaging	Het
Ip6k1	T	C	9: 107,901,631 (GRCm39)	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755 (GRCm39)		probably benign	Het
Lsr	T	G	7: 30,672,520 (GRCm39)	I27L	probably benign	Het
Mettl4	A	T	17: 95,040,622 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,200,987 (GRCm39)	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,642,307 (GRCm39)	G37D	probably damaging	Het
Or5w11	T	C	2: 87,459,248 (GRCm39)	V31A	probably benign	Het
Otogl	A	T	10: 107,642,663 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,133 (GRCm39)	D429G	probably damaging	Het
Pramel34	A	T	5: 93,785,887 (GRCm39)	V131D	probably benign	Het
Prelid2	A	T	18: 42,065,816 (GRCm39)	L73*	probably null	Het
Psg20	T	A	7: 18,415,102 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab24	C	T	13: 55,468,120 (GRCm39)		probably null	Het
Rag1	T	G	2: 101,472,691 (GRCm39)	K817T	probably benign	Het
Rgl2	T	C	17: 34,150,713 (GRCm39)	V57A	probably benign	Het
Ric1	T	C	19: 29,510,659 (GRCm39)	M80T	probably damaging	Het
Sh3rf3	T	C	10: 58,842,883 (GRCm39)	I283T	probably damaging	Het
Skint2	C	A	4: 112,483,187 (GRCm39)	N197K	probably damaging	Het
Snapc4	A	G	2: 26,266,730 (GRCm39)	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,157,462 (GRCm39)		probably benign	Het
Svip	T	C	7: 51,653,161 (GRCm39)	K51R	probably benign	Het
Syndig1	T	A	2: 149,741,708 (GRCm39)	V98E	probably benign	Het
Tshz1	A	T	18: 84,033,517 (GRCm39)	M297K	possibly damaging	Het
Ttn	A	G	2: 76,749,694 (GRCm39)	V3785A	probably benign	Het
Usf3	T	C	16: 44,035,924 (GRCm39)	S135P	probably damaging	Het
Vmn2r10	A	T	5: 109,144,306 (GRCm39)	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,405,099 (GRCm39)	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,579,409 (GRCm39)	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,251,599 (GRCm39)	I212V	probably benign	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
R6847:Ak9	UTSW	10	41,233,797 (GRCm39)	splice site	probably null
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
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'- AAACCTGTTGAAAATGCAGAGAACC -3'
(R):5'- ATCCTATCTCCATCTAGCCACAATG -3'

Sequencing Primer
(F):5'- TTGAAAATGCAGAGAACCCGCTG -3'
(R):5'- CAGATCTCTGTGAGCTTCAGGC -3'

Posted On

2020-09-15