Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Agmo'

628937

Institutional Source

Beutler Lab

Gene Symbol

Agmo

Ensembl Gene

ENSMUSG00000050103

Gene Name

alkylglycerol monooxygenase

Synonyms

Tmem195, A530016O06Rik

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

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

Stock #

R8071 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

37291640-37632201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37448728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 217 (T217A)

Ref Sequence

ENSEMBL: ENSMUSP00000051441 (fasta)

Gene Model

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

AlphaFold

Q8BS35

Predicted Effect

probably damaging
Transcript: ENSMUST00000049874
AA Change: T217A

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

SMART Domains

Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: T217A

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 damaging
Transcript: ENSMUST00000159998
AA Change: T217A

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

SMART Domains

Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: T217A

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

probably damaging
Transcript: ENSMUST00000160390
AA Change: T217A

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

SMART Domains

Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: T217A

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

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Arhgap39	A	G	15: 76,621,702 (GRCm39)	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,991,362 (GRCm39)	D778V	unknown	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Map2k4	A	T	11: 65,597,827 (GRCm39)	C264S		Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,821,169 (GRCm39)	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Wnt16	G	A	6: 22,288,997 (GRCm39)	A105T	probably benign	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably 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
IGL02803:Agmo	APN	12	37,302,480 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTATGATCACAGCTGGGAGG -3'
(R):5'- CCACTGGTCCATGCTTTCAAG -3'

Sequencing Primer
(F):5'- ATCACAGCTGGGAGGTCATTGC -3'
(R):5'- TCACACTGTGAGGTGTG -3'

Posted On

2020-06-30