Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Agk'

420300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agk

Ensembl Gene

ENSMUSG00000029916

Gene Name

acylglycerol kinase

Synonyms

2610037M15Rik, MuLK

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

40302106-40373696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40371576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 358 (R358C)

Ref Sequence

ENSEMBL: ENSMUSP00000031977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031977]

AlphaFold

Q9ESW4

Predicted Effect

probably benign
Transcript: ENSMUST00000031977
AA Change: R358C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: R358C

Domain	Start	End	E-Value	Type
DAGKc	62	193	1.9e-6	SMART
low complexity region	257	272	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201751

Coding Region Coverage

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 mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	T	19: 8,981,592 (GRCm39)	V959F	possibly damaging	Het
Aoc1	C	T	6: 48,883,380 (GRCm39)	R419C	probably benign	Het
Brf2	T	C	8: 27,615,872 (GRCm39)	D171G	probably benign	Het
Cnot1	T	C	8: 96,501,344 (GRCm39)	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,719 (GRCm39)	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,494,377 (GRCm39)	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,354,422 (GRCm39)	D137N	probably damaging	Het
Erich3	A	T	3: 154,433,114 (GRCm39)	I363F	probably damaging	Het
F13b	T	A	1: 139,434,674 (GRCm39)	C147S	probably damaging	Het
Fam186b	T	C	15: 99,178,258 (GRCm39)	E356G	probably benign	Het
Fat2	T	A	11: 55,201,990 (GRCm39)	R361S	probably benign	Het
Fat4	A	T	3: 39,037,336 (GRCm39)	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,323,687 (GRCm39)	E308*	probably null	Het
Ifna11	A	G	4: 88,738,412 (GRCm39)	K73E	probably benign	Het
Itga10	A	G	3: 96,562,104 (GRCm39)	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,768,563 (GRCm39)	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,051,298 (GRCm39)	A378D	probably damaging	Het
Mixl1	T	C	1: 180,522,191 (GRCm39)	N230S	probably benign	Het
Ncbp1	T	A	4: 46,171,991 (GRCm39)	C786*	probably null	Het
Nup153	C	T	13: 46,836,628 (GRCm39)	S1327N	probably benign	Het
Or4c12b	A	T	2: 89,647,509 (GRCm39)	T280S	possibly damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Osr2	C	A	15: 35,301,000 (GRCm39)	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,851,403 (GRCm39)	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630 (GRCm39)	I107F	probably damaging	Het
Rin2	G	A	2: 145,727,846 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,605,538 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,677,137 (GRCm39)	Y466H	probably null	Het
Slc25a40	C	T	5: 8,477,442 (GRCm39)	P9L	probably benign	Het
Slc27a1	T	C	8: 72,038,052 (GRCm39)	S567P	probably benign	Het
Sox8	G	A	17: 25,786,414 (GRCm39)	R430C	probably damaging	Het
Tacc2	T	C	7: 130,227,791 (GRCm39)	V1492A	possibly damaging	Het
Taf5l	A	G	8: 124,724,725 (GRCm39)	S365P	possibly damaging	Het
Tet2	T	A	3: 133,173,312 (GRCm39)	H1650L	possibly damaging	Het
Tmem117	G	A	15: 94,909,274 (GRCm39)	R229H	probably damaging	Het
Ttc17	A	G	2: 94,216,450 (GRCm39)	L79P	probably damaging	Het
Usp54	A	T	14: 20,639,436 (GRCm39)		probably benign	Het
Zfp455	T	A	13: 67,355,066 (GRCm39)	C111*	probably null	Het
Zmym4	A	C	4: 126,808,881 (GRCm39)	C389G	possibly damaging	Het

Other mutations in Agk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Agk	APN	6	40,353,160 (GRCm39)	missense	probably damaging	0.98
IGL02254:Agk	APN	6	40,358,180 (GRCm39)	missense	probably damaging	1.00
IGL02309:Agk	APN	6	40,353,210 (GRCm39)	missense	possibly damaging	0.59
R1145:Agk	UTSW	6	40,329,372 (GRCm39)	splice site	probably benign
R1470:Agk	UTSW	6	40,363,751 (GRCm39)	missense	probably damaging	1.00
R1470:Agk	UTSW	6	40,363,751 (GRCm39)	missense	probably damaging	1.00
R1806:Agk	UTSW	6	40,364,429 (GRCm39)	missense	probably damaging	0.99
R2011:Agk	UTSW	6	40,353,168 (GRCm39)	missense	probably benign	0.00
R3552:Agk	UTSW	6	40,371,615 (GRCm39)	missense	probably benign
R4853:Agk	UTSW	6	40,360,753 (GRCm39)	critical splice donor site	probably null
R6367:Agk	UTSW	6	40,363,875 (GRCm39)	missense	probably benign	0.01
R6591:Agk	UTSW	6	40,369,624 (GRCm39)	missense	probably benign	0.29
R6691:Agk	UTSW	6	40,369,624 (GRCm39)	missense	probably benign	0.29
R6753:Agk	UTSW	6	40,345,504 (GRCm39)	splice site	probably null
R7299:Agk	UTSW	6	40,306,451 (GRCm39)	missense	possibly damaging	0.93
R7301:Agk	UTSW	6	40,306,451 (GRCm39)	missense	possibly damaging	0.93
R7757:Agk	UTSW	6	40,353,212 (GRCm39)	missense	possibly damaging	0.95
R8063:Agk	UTSW	6	40,306,490 (GRCm39)	missense	possibly damaging	0.95
R8773:Agk	UTSW	6	40,334,050 (GRCm39)	missense	possibly damaging	0.88
R8795:Agk	UTSW	6	40,363,854 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02