Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Agk'

530886

Institutional Source

Beutler Lab

Gene Symbol

Agk

Ensembl Gene

ENSMUSG00000029916

Gene Name

acylglycerol kinase

Synonyms

MuLK, 2610037M15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40325172-40396762 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 40368570 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031977 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000031977

SMART Domains

Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916

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: ENSMUST00000201342

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	Het

Other mutations in Agk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Agk	APN	6	40376226	missense	probably damaging	0.98
IGL02254:Agk	APN	6	40381246	missense	probably damaging	1.00
IGL02309:Agk	APN	6	40376276	missense	possibly damaging	0.59
IGL03371:Agk	APN	6	40394642	missense	probably benign
R1145:Agk	UTSW	6	40352438	splice site	probably benign
R1470:Agk	UTSW	6	40386817	missense	probably damaging	1.00
R1470:Agk	UTSW	6	40386817	missense	probably damaging	1.00
R1806:Agk	UTSW	6	40387495	missense	probably damaging	0.99
R2011:Agk	UTSW	6	40376234	missense	probably benign	0.00
R3552:Agk	UTSW	6	40394681	missense	probably benign
R4853:Agk	UTSW	6	40383819	critical splice donor site	probably null
R6367:Agk	UTSW	6	40386941	missense	probably benign	0.01
R6591:Agk	UTSW	6	40392690	missense	probably benign	0.29
R6691:Agk	UTSW	6	40392690	missense	probably benign	0.29
R7299:Agk	UTSW	6	40329517	missense	possibly damaging	0.93
R7301:Agk	UTSW	6	40329517	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGCCAGTGTGATAGCTTAG -3'
(R):5'- TGTTAATTTTCAGGCCCAGGC -3'

Sequencing Primer
(F):5'- TCAGCCAGTGTGATAGCTTAGTACAG -3'
(R):5'- GGCTCTACCACACACATAGGTTAG -3'

Posted On

2018-08-01