Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Ak3'

311223

Institutional Source

Beutler Lab

Gene Symbol

Ak3

Ensembl Gene

ENSMUSG00000024782

Gene Name

adenylate kinase 3

Synonyms

AK-3

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28998233-29025361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29025118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 38 (S38C)

Ref Sequence

ENSEMBL: ENSMUSP00000025696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025696]

AlphaFold

Q9WTP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025696
AA Change: S38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025696
Gene: ENSMUSG00000024782
AA Change: S38C

Domain	Start	End	E-Value	Type
Pfam:AAA_17	9	172	2.4e-7	PFAM
Pfam:ADK	12	192	2.6e-52	PFAM
Pfam:ADK_lid	128	163	4.3e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187897

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dnajb6	T	C	5: 29,956,006 (GRCm39)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Klk1b4	G	A	7: 43,861,017 (GRCm39)	G220D	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mical2	A	G	7: 112,006,885 (GRCm39)		probably null	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tasor	T	C	14: 27,199,087 (GRCm39)	L1335S	possibly damaging	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vax2	T	C	6: 83,714,529 (GRCm39)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	probably benign	Het

Other mutations in Ak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03162:Ak3	APN	19	29,000,236 (GRCm39)	missense	possibly damaging	0.61
PIT4243001:Ak3	UTSW	19	29,015,271 (GRCm39)	critical splice donor site	probably null
PIT4469001:Ak3	UTSW	19	29,025,157 (GRCm39)	missense	probably damaging	0.97
R0277:Ak3	UTSW	19	29,025,192 (GRCm39)	missense	possibly damaging	0.80
R0855:Ak3	UTSW	19	29,000,345 (GRCm39)	missense	probably benign
R1747:Ak3	UTSW	19	29,000,261 (GRCm39)	missense	possibly damaging	0.87
R2141:Ak3	UTSW	19	29,000,247 (GRCm39)	missense	probably benign	0.00
R4839:Ak3	UTSW	19	29,025,132 (GRCm39)	missense	probably damaging	0.99
R6207:Ak3	UTSW	19	29,000,340 (GRCm39)	missense	probably damaging	0.99
R6702:Ak3	UTSW	19	29,003,627 (GRCm39)	missense	probably damaging	1.00
R8897:Ak3	UTSW	19	29,025,118 (GRCm39)	missense	probably damaging	0.98
R8969:Ak3	UTSW	19	29,025,094 (GRCm39)	missense	probably benign
R9573:Ak3	UTSW	19	29,003,667 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGTGTCGAATGAGCTTC -3'
(R):5'- CTAGAAGTAGAACGGGGTGCTC -3'

Sequencing Primer
(F):5'- GCTGTGTCGAATGAGCTTCTAAAAAC -3'
(R):5'- GTGCTCAGAGGTTGTCCAC -3'

Posted On

2015-04-29