Mutagenetix > Incidental Mutation

Incidental Mutation 'R9195:Ak9'

697908

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

LOC215946, Akd1, Gm7127, Akd2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R9195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41303980-41434534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41407483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1310 (Y1310C)

Ref Sequence

ENSEMBL: ENSMUSP00000134177 (fasta)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: Y1310C

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,786,303	I124T		Het
Acot10	G	C	15: 20,665,431	T408R	probably damaging	Het
Atp6v1c1	T	A	15: 38,673,954	F64I	probably damaging	Het
Bahcc1	A	G	11: 120,276,511	E1246G	probably benign	Het
Brca2	T	A	5: 150,539,953	S1061T	possibly damaging	Het
Cep83	A	G	10: 94,768,939	R505G	possibly damaging	Het
Clasp2	A	G	9: 113,841,977	E382G	probably benign	Het
Cnksr3	A	T	10: 7,138,379	H235Q	probably damaging	Het
Ctsh	A	T	9: 90,062,762	H90L	probably benign	Het
Cybrd1	G	A	2: 71,138,398	G205D	probably damaging	Het
Cyfip2	A	T	11: 46,270,628	I345N	probably damaging	Het
Ech1	T	C	7: 28,826,021	L67P	probably damaging	Het
Ect2l	T	C	10: 18,143,088	N612S	probably benign	Het
Gm8186	T	A	17: 26,099,118	D35V	probably damaging	Het
Ighv1-15	T	C	12: 114,657,519	H62R	probably benign	Het
Kcns1	A	T	2: 164,167,858	L327Q	probably damaging	Het
Lbr	T	C	1: 181,836,272	K61R	probably benign	Het
Mrpl36	G	A	13: 73,331,379	A3T	unknown	Het
Nectin3	G	A	16: 46,458,896	R240*	probably null	Het
Nek10	T	C	14: 14,821,139	L35P	probably benign	Het
Nr1d1	A	G	11: 98,769,057	V547A	possibly damaging	Het
Obscn	A	T	11: 59,051,214	I4445N	probably damaging	Het
Olfr641	T	C	7: 104,040,138	I114T	probably damaging	Het
Pcdhgb1	T	G	18: 37,681,104	V216G	probably damaging	Het
Pklr	T	C	3: 89,141,329	S100P	probably damaging	Het
R3hdm1	T	A	1: 128,162,238	S70T	probably benign	Het
Rec114	T	G	9: 58,660,251	T151P	probably benign	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Slc33a1	A	G	3: 63,963,767	S142P	probably damaging	Het
Slc4a4	T	A	5: 89,133,196	N407K	possibly damaging	Het
Slc5a4b	A	G	10: 76,062,315	C522R	probably damaging	Het
Tcim	A	T	8: 24,438,862	M12K	probably damaging	Het
Tenm4	T	A	7: 96,892,919	Y1917N	probably damaging	Het
Ttll1	A	G	15: 83,489,578	Y345H	probably benign	Het
Urb1	A	G	16: 90,792,750	V381A	probably benign	Het
Wnt16	T	C	6: 22,297,933	M266T	probably benign	Het
Zfyve26	T	C	12: 79,264,394	I1562V	probably benign	Het

Other mutations in Ak9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Mean	UTSW	10	41357563	missense	possibly damaging	0.59
BB006:Ak9	UTSW	10	41383948	missense
BB016:Ak9	UTSW	10	41383948	missense
R0057:Ak9	UTSW	10	41392728	missense	probably benign	0.04
R0605:Ak9	UTSW	10	41345139	missense	probably damaging	1.00
R0658:Ak9	UTSW	10	41347222	missense	probably damaging	0.98
R1696:Ak9	UTSW	10	41327589	missense	possibly damaging	0.73
R1738:Ak9	UTSW	10	41335921	missense	possibly damaging	0.86
R1815:Ak9	UTSW	10	41337576	missense	probably damaging	1.00
R2900:Ak9	UTSW	10	41424755	missense	unknown
R3123:Ak9	UTSW	10	41358580	missense	possibly damaging	0.46
R3715:Ak9	UTSW	10	41357512	missense	probably damaging	0.96
R4092:Ak9	UTSW	10	41389144	missense	probably benign	0.29
R4193:Ak9	UTSW	10	41335945	missense	probably benign	0.14
R4598:Ak9	UTSW	10	41383911	missense	probably damaging	1.00
R4621:Ak9	UTSW	10	41406891	missense	possibly damaging	0.55
R4681:Ak9	UTSW	10	41427238	missense	unknown
R4707:Ak9	UTSW	10	41345460	missense	probably benign	0.36
R4908:Ak9	UTSW	10	41420682	missense	unknown
R4952:Ak9	UTSW	10	41420589	missense	probably benign	0.07
R5162:Ak9	UTSW	10	41357657	missense	probably damaging	1.00
R5446:Ak9	UTSW	10	41420509	missense	possibly damaging	0.70
R5494:Ak9	UTSW	10	41347169	missense	probably damaging	1.00
R5517:Ak9	UTSW	10	41340891	missense	probably benign	0.23
R5849:Ak9	UTSW	10	41348049	missense	probably benign	0.31
R5858:Ak9	UTSW	10	41423027	missense	unknown
R5920:Ak9	UTSW	10	41420676	missense	probably benign	0.30
R5952:Ak9	UTSW	10	41357563	missense	possibly damaging	0.59
R5955:Ak9	UTSW	10	41358564	missense	probably damaging	1.00
R6050:Ak9	UTSW	10	41389112	missense	possibly damaging	0.74
R6087:Ak9	UTSW	10	41382832	missense	probably benign	0.01
R6190:Ak9	UTSW	10	41422407	missense	unknown
R6190:Ak9	UTSW	10	41422408	missense	unknown
R6197:Ak9	UTSW	10	41317830	missense	probably damaging	0.98
R6220:Ak9	UTSW	10	41370099	missense	unknown
R6250:Ak9	UTSW	10	41389034	missense	possibly damaging	0.54
R6315:Ak9	UTSW	10	41406841	missense	possibly damaging	0.55
R6331:Ak9	UTSW	10	41382829	missense	probably damaging	0.99
R6812:Ak9	UTSW	10	41367167	missense	unknown
R6847:Ak9	UTSW	10	41357801	splice site	probably null
R7128:Ak9	UTSW	10	41424717	missense	unknown
R7253:Ak9	UTSW	10	41432484	missense	unknown
R7286:Ak9	UTSW	10	41407371	missense
R7401:Ak9	UTSW	10	41423004	missense	unknown
R7478:Ak9	UTSW	10	41389091	missense
R7698:Ak9	UTSW	10	41348076	missense
R7758:Ak9	UTSW	10	41347132	missense
R7806:Ak9	UTSW	10	41433084	critical splice acceptor site	probably null
R7894:Ak9	UTSW	10	41420539	missense	unknown
R7929:Ak9	UTSW	10	41383948	missense
R7941:Ak9	UTSW	10	41409137	missense	unknown
R8032:Ak9	UTSW	10	41424620	missense	unknown
R8143:Ak9	UTSW	10	41337592	nonsense	probably null
R8298:Ak9	UTSW	10	41389058	missense
R8301:Ak9	UTSW	10	41424716	missense
R8355:Ak9	UTSW	10	41399704	missense
R8703:Ak9	UTSW	10	41325124	missense
R8728:Ak9	UTSW	10	41406963	missense
R8757:Ak9	UTSW	10	41423040	missense	unknown
R8798:Ak9	UTSW	10	41382851	missense
R8868:Ak9	UTSW	10	41317846	critical splice donor site	probably null
R8868:Ak9	UTSW	10	41382873	nonsense	probably null
R9088:Ak9	UTSW	10	41406874	missense
R9090:Ak9	UTSW	10	41424627	missense	unknown
R9165:Ak9	UTSW	10	41433239	missense	unknown
R9271:Ak9	UTSW	10	41424627	missense	unknown
R9297:Ak9	UTSW	10	41423085	missense	unknown
R9302:Ak9	UTSW	10	41320490	missense
R9309:Ak9	UTSW	10	41316368	critical splice donor site	probably null
R9318:Ak9	UTSW	10	41423085	missense	unknown
R9393:Ak9	UTSW	10	41409072	missense	unknown
R9541:Ak9	UTSW	10	41367177	missense
R9579:Ak9	UTSW	10	41337580	missense
R9618:Ak9	UTSW	10	41327631	missense
R9697:Ak9	UTSW	10	41422972	nonsense	probably null
R9753:Ak9	UTSW	10	41383500	missense
Z1176:Ak9	UTSW	10	41348251	missense
Z1176:Ak9	UTSW	10	41423023	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCACCAGCTGTGTCTACATAC -3'
(R):5'- TTCCCAGAAGAAGCAATGGTGG -3'

Sequencing Primer
(F):5'- CCAGCTGTGTCTACATACTATAACTG -3'
(R):5'- GCCTCCAAATATTAATGGATAGCAC -3'

Posted On

2022-02-07