Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Agmo'

709804

Institutional Source

Beutler Lab

Gene Symbol

Agmo

Ensembl Gene

ENSMUSG00000050103

Gene Name

alkylglycerol monooxygenase

Synonyms

Tmem195, A530016O06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37291640-37632201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37293720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 48 (I48V)

Ref Sequence

ENSEMBL: ENSMUSP00000051441 (fasta)

Gene Model

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

AlphaFold

Q8BS35

Predicted Effect

probably benign
Transcript: ENSMUST00000049874
AA Change: I48V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: I48V

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: I48V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: I48V

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
AA Change: I48V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: I48V

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

possibly damaging
Transcript: ENSMUST00000160768
AA Change: I48V

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124044
Gene: ENSMUSG00000050103
AA Change: I48V

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: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,735 (GRCm39)	K1047E	possibly damaging	Het
Aadacl2fm1	A	G	3: 59,839,110 (GRCm39)	T11A	possibly damaging	Het
Abca14	A	T	7: 119,807,191 (GRCm39)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,329,094 (GRCm39)	M978K	probably benign	Het
Adamts3	A	T	5: 89,848,269 (GRCm39)	C684*	probably null	Het
Adnp2	T	C	18: 80,172,637 (GRCm39)	T591A	probably benign	Het
Aff4	A	T	11: 53,263,306 (GRCm39)	T109S	probably damaging	Het
Appl1	G	A	14: 26,649,784 (GRCm39)	R581*	probably null	Het
Armc9	A	T	1: 86,189,766 (GRCm39)	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377 (GRCm39)	T41S	probably benign	Het
Bin1	A	T	18: 32,552,921 (GRCm39)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,410,684 (GRCm39)	D159G	probably benign	Het
Bsn	G	A	9: 107,984,854 (GRCm39)	P295S	possibly damaging	Het
Cbx6	A	G	15: 79,712,606 (GRCm39)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,192,631 (GRCm39)	K108R	probably benign	Het
Ces1d	T	A	8: 93,912,724 (GRCm39)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,787,708 (GRCm39)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,358,039 (GRCm39)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,539,879 (GRCm39)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,645,802 (GRCm39)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,150,837 (GRCm39)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,189,513 (GRCm39)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,621,776 (GRCm39)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,027,356 (GRCm39)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,790,201 (GRCm39)	N281D	probably damaging	Het
Frem2	A	T	3: 53,559,410 (GRCm39)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,282,037 (GRCm39)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,227,353 (GRCm39)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,369,291 (GRCm39)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,881,680 (GRCm39)	E187G	probably damaging	Het
Ighm	T	A	12: 113,386,210 (GRCm39)	T47S		Het
Itgb7	A	C	15: 102,135,831 (GRCm39)		probably null	Het
Kif16b	A	T	2: 142,461,738 (GRCm39)	C1293*	probably null	Het
Klf11	C	T	12: 24,705,043 (GRCm39)	R166C	probably benign	Het
Lca5l	T	A	16: 95,977,212 (GRCm39)	Q198L	probably damaging	Het
Lnx2	A	T	5: 146,961,180 (GRCm39)	M584K	probably benign	Het
Lpp	A	T	16: 24,540,737 (GRCm39)	M1L	probably benign	Het
Lrig3	A	G	10: 125,832,953 (GRCm39)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Megf8	A	T	7: 25,039,840 (GRCm39)		probably null	Het
Myh1	A	C	11: 67,093,259 (GRCm39)	T117P	probably damaging	Het
Neb	C	A	2: 52,134,113 (GRCm39)	R3290L	possibly damaging	Het
Neb	A	C	2: 52,137,304 (GRCm39)	V220G		Het
Nktr	A	T	9: 121,577,264 (GRCm39)	K444I	probably damaging	Het
Nol11	A	T	11: 107,064,505 (GRCm39)	M483K	probably benign	Het
Npy1r	C	A	8: 67,156,861 (GRCm39)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm39)	T37A	probably benign	Het
Or10ad1b	A	G	15: 98,124,920 (GRCm39)	L204P	possibly damaging	Het
Or2y3	G	A	17: 38,393,056 (GRCm39)	A271V	possibly damaging	Het
Or4c119	T	C	2: 88,987,399 (GRCm39)	N40S	probably damaging	Het
Or51v8	A	T	7: 103,319,389 (GRCm39)	M283K	probably damaging	Het
Or5w14	C	A	2: 87,541,423 (GRCm39)	V276F	possibly damaging	Het
Or8a1b	A	G	9: 37,623,473 (GRCm39)	I34T	probably damaging	Het
Or8b37	G	A	9: 37,958,775 (GRCm39)	V86M	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdha3	A	G	18: 37,080,284 (GRCm39)	D342G	probably damaging	Het
Pclo	G	A	5: 14,815,877 (GRCm39)	V1266I		Het
Pcnx4	T	C	12: 72,602,664 (GRCm39)	Y309H	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,127,772 (GRCm39)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,615,425 (GRCm39)	A225V	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plat	A	G	8: 23,265,599 (GRCm39)	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627 (GRCm39)	C274*	probably null	Het
Poglut1	A	G	16: 38,347,133 (GRCm39)	F345L	possibly damaging	Het
Ppara	A	T	15: 85,661,837 (GRCm39)	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,327,571 (GRCm39)	W79R	probably damaging	Het
Prdm1	C	T	10: 44,316,150 (GRCm39)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,136,011 (GRCm39)		probably benign	Het
Slc31a1	T	A	4: 62,306,843 (GRCm39)	M133K	probably damaging	Het
Smg1	G	A	7: 117,777,998 (GRCm39)	Q1309*	probably null	Het
Sos1	T	C	17: 80,761,239 (GRCm39)	I152M	probably damaging	Het
Stk4	A	T	2: 163,952,136 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,200,954 (GRCm39)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,099,666 (GRCm39)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm39)	M548K	probably benign	Het
Twf1	G	A	15: 94,483,336 (GRCm39)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,642,648 (GRCm39)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm39)	I1370K	unknown	Het
Usp40	A	G	1: 87,885,032 (GRCm39)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,362,554 (GRCm39)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,575,732 (GRCm39)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,350,079 (GRCm39)	H546R	probably benign	Het
Yeats2	T	C	16: 20,033,228 (GRCm39)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,112,575 (GRCm39)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 52,776,521 (GRCm39)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm39)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 10,800,192 (GRCm39)	H232Q	probably benign	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
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
R9428:Agmo	UTSW	12	37,455,330 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TTGAACTTGGAGCATTTCTGTCC -3'
(R):5'- GCTTTACACTGGGAAAGACTTGG -3'

Sequencing Primer
(F):5'- TGGAGCATTTCTGTCCTAATTTTAC -3'
(R):5'- TTGGAAGCCGAGACACA -3'

Posted On

2022-04-18