Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Agmo'

655890

Institutional Source

Beutler Lab

Gene Symbol

Agmo

Ensembl Gene

ENSMUSG00000050103

Gene Name

alkylglycerol monooxygenase

Synonyms

Tmem195, A530016O06Rik

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

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

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37291640-37632201 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 37294396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 115 (*115R)

Ref Sequence

ENSEMBL: ENSMUSP00000124044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049874] [ENSMUST00000159998] [ENSMUST00000160390] [ENSMUST00000160768]

AlphaFold

Q8BS35

Predicted Effect

probably benign
Transcript: ENSMUST00000049874

SMART Domains

Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103

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

SMART Domains

Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103

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 benign
Transcript: ENSMUST00000160390

SMART Domains

Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103

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

Predicted Effect

probably null
Transcript: ENSMUST00000160768
AA Change: *115R

SMART Domains

Protein: ENSMUSP00000124044
Gene: ENSMUSG00000050103
AA Change: *115R

Domain	Start	End	E-Value	Type
transmembrane domain	43	61	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	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
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
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'- TAGAGAATGCTCAATATCCCTAGTG -3'
(R):5'- TGCCTCAGAGATGTGTCATG -3'

Sequencing Primer
(F):5'- TGCTCAATATCCCTAGTGTTAATTTC -3'
(R):5'- CCTCAGAGATGTGTCATGACAGG -3'

Posted On

2020-10-20