Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Agmo'

360306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agmo

Ensembl Gene

ENSMUSG00000050103

Gene Name

alkylglycerol monooxygenase

Synonyms

Tmem195, A530016O06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

37291640-37632201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37302480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 106 (L106F)

Ref Sequence

ENSEMBL: ENSMUSP00000125639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049874] [ENSMUST00000159998] [ENSMUST00000160390]

AlphaFold

Q8BS35

Predicted Effect

probably benign
Transcript: ENSMUST00000049874
AA Change: L106F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: L106F

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
Pfam:FA_hydroxylase	117	249	2.5e-29	PFAM
transmembrane domain	364	383	N/A	INTRINSIC
transmembrane domain	411	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159998
AA Change: L106F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: L106F

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
Pfam:FA_hydroxylase	117	226	7e-21	PFAM
transmembrane domain	364	383	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160158

Predicted Effect

probably benign
Transcript: ENSMUST00000160390
AA Change: L106F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: L106F

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
Pfam:FA_hydroxylase	117	226	7.1e-21	PFAM
transmembrane domain	364	383	N/A	INTRINSIC

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 tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	A	G	14: 26,673,473 (GRCm39)	I208T	possibly damaging	Het
Arap2	G	T	5: 62,906,452 (GRCm39)	A189D	probably benign	Het
Arhgef12	T	C	9: 42,883,324 (GRCm39)	K1402E	possibly damaging	Het
C7	A	C	15: 5,079,042 (GRCm39)	F89V	probably damaging	Het
Camsap2	G	A	1: 136,208,861 (GRCm39)	T877I	probably damaging	Het
Cpt2	T	C	4: 107,764,583 (GRCm39)	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dnah10	C	A	5: 124,875,078 (GRCm39)	T2528N	probably damaging	Het
Entpd8	G	T	2: 24,975,151 (GRCm39)	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,163,135 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,943,444 (GRCm39)	V779A	probably damaging	Het
Gckr	T	C	5: 31,455,548 (GRCm39)	S34P	probably damaging	Het
Golga4	T	C	9: 118,364,528 (GRCm39)	V297A	probably benign	Het
Gpr65	T	C	12: 98,241,469 (GRCm39)	S41P	probably damaging	Het
Gps1	G	T	11: 120,677,649 (GRCm39)	A221S	probably damaging	Het
Heatr1	T	A	13: 12,448,867 (GRCm39)	S1861T	probably damaging	Het
Hmces	A	G	6: 87,902,711 (GRCm39)	E184G	probably damaging	Het
Itfg1	T	C	8: 86,452,140 (GRCm39)		probably null	Het
Mrtfb	C	T	16: 13,221,020 (GRCm39)	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,291 (GRCm39)	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,331,317 (GRCm39)	A360S	probably damaging	Het
Nop9	A	G	14: 55,987,533 (GRCm39)	H298R	probably benign	Het
Or5an1	A	T	19: 12,261,347 (GRCm39)	S312C	possibly damaging	Het
Or5h17	T	A	16: 58,820,321 (GRCm39)	V91E	probably benign	Het
Or6ae1	T	C	7: 139,742,287 (GRCm39)	D192G	possibly damaging	Het
Osgin1	A	G	8: 120,170,006 (GRCm39)	M158V	probably benign	Het
Patj	C	A	4: 98,314,301 (GRCm39)	Q374K	probably damaging	Het
Pck1	G	T	2: 172,997,797 (GRCm39)	G289W	probably damaging	Het
Phkg1	T	G	5: 129,894,895 (GRCm39)	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,061,081 (GRCm39)	A533T	probably damaging	Het
Ppwd1	T	C	13: 104,350,192 (GRCm39)	I398V	probably benign	Het
Prkdc	A	G	16: 15,651,530 (GRCm39)		probably benign	Het
Psg25	G	A	7: 18,260,212 (GRCm39)	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,608,265 (GRCm39)	Q24L	probably benign	Het
Sgk3	T	C	1: 9,949,273 (GRCm39)	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,062,387 (GRCm39)	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,572,526 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,541,714 (GRCm39)	I347V	probably benign	Het
Spag17	A	T	3: 100,016,713 (GRCm39)	M2163L	probably benign	Het
Stab2	C	T	10: 86,786,133 (GRCm39)		probably benign	Het
Sult2a8	G	A	7: 14,145,630 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,078,320 (GRCm39)	L4718P	probably damaging	Het
Timd4	G	T	11: 46,706,521 (GRCm39)	G108W	probably damaging	Het
Timm9	T	C	12: 71,173,148 (GRCm39)		probably benign	Het
Vmn2r98	G	A	17: 19,286,275 (GRCm39)	V258I	probably benign	Het
Zcchc9	C	T	13: 91,949,000 (GRCm39)	V174I	probably benign	Het
Zdbf2	T	C	1: 63,342,236 (GRCm39)	V205A	possibly damaging	Het

Other mutations in Agmo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Agmo	APN	12	37,407,716 (GRCm39)	missense	probably damaging	1.00
IGL01412:Agmo	APN	12	37,452,140 (GRCm39)	missense	possibly damaging	0.49
IGL01682:Agmo	APN	12	37,407,626 (GRCm39)	splice site	probably benign
IGL02263:Agmo	APN	12	37,407,696 (GRCm39)	missense	probably damaging	1.00
IGL02478:Agmo	APN	12	37,451,985 (GRCm39)	missense	probably damaging	1.00
R0664:Agmo	UTSW	12	37,302,571 (GRCm39)	missense	probably damaging	1.00
R2158:Agmo	UTSW	12	37,407,709 (GRCm39)	missense	probably damaging	1.00
R3440:Agmo	UTSW	12	37,293,799 (GRCm39)	missense	probably damaging	1.00
R5263:Agmo	UTSW	12	37,407,680 (GRCm39)	missense	probably benign	0.01
R6249:Agmo	UTSW	12	37,293,837 (GRCm39)	critical splice donor site	probably null
R6251:Agmo	UTSW	12	37,302,538 (GRCm39)	missense	probably damaging	1.00
R7513:Agmo	UTSW	12	37,294,352 (GRCm39)	missense	probably benign	0.01
R7686:Agmo	UTSW	12	37,469,973 (GRCm39)	missense	probably benign	0.00
R7729:Agmo	UTSW	12	37,464,974 (GRCm39)	missense	probably benign	0.00
R7731:Agmo	UTSW	12	37,464,939 (GRCm39)	missense	probably benign	0.01
R7849:Agmo	UTSW	12	37,292,044 (GRCm39)	missense	probably benign	0.03
R7852:Agmo	UTSW	12	37,292,051 (GRCm39)	missense	possibly damaging	0.92
R8071:Agmo	UTSW	12	37,448,728 (GRCm39)	missense	probably damaging	1.00
R8089:Agmo	UTSW	12	37,397,306 (GRCm39)	missense	probably benign	0.03
R8511:Agmo	UTSW	12	37,294,396 (GRCm39)	makesense	probably null
R8534:Agmo	UTSW	12	37,302,538 (GRCm39)	missense	probably damaging	1.00
R8712:Agmo	UTSW	12	37,407,673 (GRCm39)	missense	possibly damaging	0.77
R8845:Agmo	UTSW	12	37,294,364 (GRCm39)	missense	probably benign	0.18
R9378:Agmo	UTSW	12	37,293,720 (GRCm39)	missense	probably benign	0.01
R9428:Agmo	UTSW	12	37,455,330 (GRCm39)	missense	probably benign	0.08

Posted On

2015-12-18