Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Ak9'

453783

Institutional Source

Beutler Lab

Gene Symbol

Ak9

Ensembl Gene

ENSMUSG00000091415

Gene Name

adenylate kinase 9

Synonyms

LOC215946, Akd1, Gm7127, Akd2

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

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

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41303980-41434534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41348049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 486 (D486G)

Gene Model

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

AlphaFold

G3UYQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000173494
AA Change: D486G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: D486G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173517
AA Change: D486G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134344
Gene: ENSMUSG00000091415
AA Change: D486G

Domain	Start	End	E-Value	Type
AAA	30	330	4.65e-3	SMART
low complexity region	378	392	N/A	INTRINSIC
internal_repeat_1	397	436	8.49e-5	PROSPERO
low complexity region	488	499	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,498	D111G	probably benign	Het
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Agbl1	T	C	7: 76,325,098	S113P	probably benign	Het
Arhgap11a	T	C	2: 113,834,847	S469G	probably null	Het
Ccdc144b	A	T	3: 36,032,877	D189E	possibly damaging	Het
Comtd1	C	T	14: 21,848,120	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,736,684	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,916,184		probably benign	Het
Dennd4c	T	C	4: 86,825,986	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,389,435	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,990,504		probably null	Het
Flcn	T	A	11: 59,804,760	I4L	probably damaging	Het
Grin2c	T	C	11: 115,260,991	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,556	S456R	probably benign	Het
Igf1r	A	G	7: 68,190,033	D696G	probably benign	Het
Iqgap1	A	T	7: 80,803,158	V13D	probably benign	Het
Itgal	A	G	7: 127,317,320	N728S	probably benign	Het
Kcnb1	T	A	2: 167,106,026	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,458,795		probably benign	Het
Kdm4a	C	T	4: 118,161,840	R393Q	probably benign	Het
Lcn9	G	A	2: 25,823,256		probably null	Het
Madcam1	T	A	10: 79,664,990	M47K	probably benign	Het
Matn3	A	G	12: 8,958,829	Q314R	probably benign	Het
Msh3	A	T	13: 92,249,878	D826E	possibly damaging	Het
Muc4	A	T	16: 32,774,839	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,086,935		probably null	Het
Myo15b	A	G	11: 115,881,933	K1807E	probably damaging	Het
Myrip	A	G	9: 120,453,693	D688G	probably damaging	Het
Nup153	A	G	13: 46,686,976	F1052S	probably damaging	Het
Olfr1013	A	T	2: 85,770,424	I208F	probably benign	Het
Olfr1316	A	T	2: 112,129,878	I311K	probably benign	Het
Olfr1336	A	T	7: 6,460,994	I162F	possibly damaging	Het
Olfr584	T	A	7: 103,085,521	M1K	probably null	Het
Oplah	T	A	15: 76,297,347		probably benign	Het
Pacsin2	A	G	15: 83,390,518	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,439,157	P363Q	probably damaging	Het
Rai1	C	A	11: 60,190,521	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rnf214	G	A	9: 45,868,088	P455S	probably damaging	Het
Rnf220	T	C	4: 117,277,612	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,499,323	V106M	possibly damaging	Het
Sall2	C	A	14: 52,314,247	S495I	probably benign	Het
Sars2	A	G	7: 28,744,258	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,682,616	T693M	probably damaging	Het
Slfn2	C	A	11: 83,069,576	T127K	probably benign	Het
Snrpe	T	A	1: 133,608,914	I43L	probably benign	Het
Srsf1	T	C	11: 88,047,858	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,476,903		probably benign	Het
Stbd1	T	G	5: 92,604,995	F115V	probably benign	Het
Stk11ip	T	A	1: 75,527,355		probably null	Het
Taf1b	T	A	12: 24,500,525	N36K	probably damaging	Het
Tanc1	A	T	2: 59,799,904	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,686,967	R208L	probably damaging	Het
Trafd1	T	C	5: 121,373,471	D428G	probably damaging	Het
Trim24	A	G	6: 37,957,729	E793G	probably damaging	Het
Tspan32	T	C	7: 143,015,587	C100R	probably damaging	Het
Ttn	T	C	2: 76,746,242	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,658,409	L894Q	probably damaging	Het
Wfs1	C	G	5: 36,973,264	G213R	probably damaging	Het
Zfp384	G	A	6: 125,024,099	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,031,087	K690N	probably damaging	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
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
R9195:Ak9	UTSW	10	41407483	missense
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'- TCATTTGGCCCAGGAAAATATGAG -3'
(R):5'- AATGGTGGTCTCCGACTTTG -3'

Sequencing Primer
(F):5'- GCCCAGGAAAATATGAGACACAGC -3'
(R):5'- GATTTGTCTTCCTGGCCAATC -3'

Posted On

2017-02-10