Mutagenetix > Incidental Mutation

Incidental Mutation 'R8773:Agk'

664529

Institutional Source

Beutler Lab

Gene Symbol

Agk

Ensembl Gene

ENSMUSG00000029916

Gene Name

acylglycerol kinase

Synonyms

2610037M15Rik, MuLK

MMRRC Submission

068627-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40302106-40373696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40334050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 98 (V98G)

Ref Sequence

ENSEMBL: ENSMUSP00000031977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031977] [ENSMUST00000200715]

AlphaFold

Q9ESW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031977
AA Change: V98G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: V98G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200715

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,314,062 (GRCm39)	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,634,569 (GRCm39)	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,213,708 (GRCm39)		probably null	Het
Apbb2	A	G	5: 66,609,252 (GRCm39)	S132P	probably damaging	Het
Apc2	T	C	10: 80,142,046 (GRCm39)	S322P	probably damaging	Het
Armc3	T	C	2: 19,293,667 (GRCm39)	V486A	probably benign	Het
Asxl2	A	G	12: 3,507,200 (GRCm39)	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Bnc1	C	T	7: 81,623,719 (GRCm39)	G503S	probably damaging	Het
Bsn	C	A	9: 107,987,704 (GRCm39)	V2683F	unknown	Het
Btbd7	A	T	12: 102,804,241 (GRCm39)	N266K	probably benign	Het
Ccdc121rt2	T	C	5: 112,597,681 (GRCm39)	V76A	probably benign	Het
Cdca7l	G	A	12: 117,839,346 (GRCm39)	D350N	possibly damaging	Het
Cfap251	A	G	5: 123,411,913 (GRCm39)	D515G	probably benign	Het
Ciao2a	A	T	9: 66,045,667 (GRCm39)	N145I	probably damaging	Het
Col6a3	T	A	1: 90,696,171 (GRCm39)	D3239V	unknown	Het
Col9a1	T	A	1: 24,224,208 (GRCm39)	I130N	unknown	Het
Cr2	A	G	1: 194,840,913 (GRCm39)	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,417,583 (GRCm39)	F56S	probably damaging	Het
Dnaaf1	A	G	8: 120,302,194 (GRCm39)	I32V	probably benign	Het
Dnah11	T	A	12: 117,958,950 (GRCm39)	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,716,056 (GRCm39)	D302E	probably damaging	Het
Faf1	T	A	4: 109,699,507 (GRCm39)	F351I	possibly damaging	Het
Gimap8	C	A	6: 48,633,545 (GRCm39)	Q455K	probably benign	Het
Hps6	C	G	19: 45,994,141 (GRCm39)	R693G	possibly damaging	Het
Irx1	C	T	13: 72,107,635 (GRCm39)	G349D	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lcat	T	C	8: 106,666,710 (GRCm39)	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 130,983,679 (GRCm39)	H308R	probably damaging	Het
Mast1	A	T	8: 85,642,953 (GRCm39)	N947K	probably damaging	Het
Mpeg1	A	T	19: 12,440,419 (GRCm39)	I626F	probably damaging	Het
Mrtfa	T	C	15: 80,902,274 (GRCm39)	S349G	possibly damaging	Het
Myh15	T	C	16: 49,015,900 (GRCm39)	S1859P	possibly damaging	Het
Nlrx1	A	T	9: 44,167,712 (GRCm39)	D728E	probably benign	Het
Or1j8	A	G	2: 36,192,387 (GRCm39)	T279A	probably benign	Het
Or8c19-ps1	G	T	9: 38,220,516 (GRCm39)	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,624,562 (GRCm39)	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,890,364 (GRCm39)	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,829,823 (GRCm39)	I757T	probably benign	Het
Pcgf5	G	A	19: 36,389,348 (GRCm39)		probably benign	Het
Pdf	A	G	8: 107,775,100 (GRCm39)	V44A	possibly damaging	Het
Pip4p1	T	C	14: 51,166,503 (GRCm39)	T194A	possibly damaging	Het
Prtg	A	T	9: 72,819,583 (GRCm39)	*1192L	probably null	Het
Ptk7	A	G	17: 46,877,193 (GRCm39)	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,684,492 (GRCm39)	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,321,796 (GRCm39)	D46G	possibly damaging	Het
Sbf2	A	G	7: 109,948,202 (GRCm39)	V1216A	probably benign	Het
Serpina11	A	G	12: 103,952,722 (GRCm39)	V18A	unknown	Het
Serpinb6a	T	A	13: 34,115,543 (GRCm39)	N47I	probably damaging	Het
Shc2	T	C	10: 79,456,924 (GRCm39)	H564R	probably damaging	Het
Sirt7	T	A	11: 120,514,888 (GRCm39)	R115*	probably null	Het
Slc22a14	A	T	9: 119,059,290 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,912,581 (GRCm39)	S331T	probably damaging	Het
Tm9sf2	A	G	14: 122,380,883 (GRCm39)	T324A	probably benign	Het
Tmem268	T	C	4: 63,498,530 (GRCm39)	S224P	probably benign	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,555,311 (GRCm39)		probably benign	Het
Top1	A	G	2: 160,556,158 (GRCm39)	Y539C	probably damaging	Het
Tpp2	T	A	1: 44,009,552 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,238 (GRCm39)	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,565,679 (GRCm39)	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,083,922 (GRCm39)	M209L	probably benign	Het
Xirp2	T	A	2: 67,355,527 (GRCm39)	D3429E	probably benign	Het
Zfp418	A	T	7: 7,185,797 (GRCm39)	T587S	probably benign	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
IGL03371:Agk	APN	6	40,371,576 (GRCm39)	missense	probably benign
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
R8795:Agk	UTSW	6	40,363,854 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CACCGTTGAGTTTCTAGGGC -3'
(R):5'- TGCTGCAAAGTATCAAGACCTCC -3'

Sequencing Primer
(F):5'- TTCTAGGGCATGTGGTTACAG -3'
(R):5'- GAACACCCATCTGAGTCTGTG -3'

Posted On

2021-03-08