Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Agps'

168275

Institutional Source

Beutler Lab

Gene Symbol

Agps

Ensembl Gene

ENSMUSG00000042410

Gene Name

alkylglycerone phosphate synthase

Synonyms

bs2, ADAPS, 9930035G10Rik

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75832177-75931350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75866779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 314 (E314D)

Ref Sequence

ENSEMBL: ENSMUSP00000107583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000111952] [ENSMUST00000175646] [ENSMUST00000176056]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047232
AA Change: E314D

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: E314D

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	73	95	N/A	INTRINSIC
Pfam:FAD_binding_4	219	362	3.2e-43	PFAM
Pfam:FAD-oxidase_C	397	670	4.2e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111952
AA Change: E314D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: E314D

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	73	95	N/A	INTRINSIC
Pfam:FAD_binding_4	219	362	4.7e-43	PFAM
Pfam:FAD-oxidase_C	397	508	5.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175646
AA Change: E211D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: E211D

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_4	116	259	1.2e-43	PFAM
Pfam:FAD-oxidase_C	294	567	2.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176056

SMART Domains

Protein: ENSMUSP00000134773
Gene: ENSMUSG00000042410

Domain	Start	End	E-Value	Type
SCOP:d1e8ga1	1	50	2e-15	SMART
PDB:4BCA\|D	1	53	3e-31	PDB

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit male infertility, azoospermia, microphthalmia, and cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977 (GRCm38)	N576K	probably benign	Het
Abca5	T	A	11: 110,299,986 (GRCm38)	H766L	possibly damaging	Het
Abca5	G	T	11: 110,299,978 (GRCm38)	L769M	probably damaging	Het
Acvr1c	A	G	2: 58,287,884 (GRCm38)	I191T	probably damaging	Het
Agxt	G	A	1: 93,135,768 (GRCm38)	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746 (GRCm38)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277 (GRCm38)	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185 (GRCm38)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161 (GRCm38)	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097 (GRCm38)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782 (GRCm38)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958 (GRCm38)	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703 (GRCm38)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169 (GRCm38)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558 (GRCm38)	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552 (GRCm38)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788 (GRCm38)		probably benign	Het
Cr2	T	G	1: 195,155,272 (GRCm38)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112 (GRCm38)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250 (GRCm38)		probably benign	Het
Cxcr1	T	C	1: 74,192,770 (GRCm38)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936 (GRCm38)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727 (GRCm38)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278 (GRCm38)	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477 (GRCm38)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374 (GRCm38)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664 (GRCm38)	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281 (GRCm38)	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919 (GRCm38)	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076 (GRCm38)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285 (GRCm38)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469 (GRCm38)		noncoding transcript	Het
Galm	C	A	17: 80,183,267 (GRCm38)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102 (GRCm38)	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383 (GRCm38)	S207T	probably benign	Het
Il33	C	T	19: 29,955,215 (GRCm38)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm38)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324 (GRCm38)		probably null	Het
Kirrel2	A	G	7: 30,456,498 (GRCm38)	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555 (GRCm38)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484 (GRCm38)	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025 (GRCm38)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670 (GRCm38)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278 (GRCm38)	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529 (GRCm38)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664 (GRCm38)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822 (GRCm38)		probably null	Het
Nckap1	T	C	2: 80,553,415 (GRCm38)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170 (GRCm38)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347 (GRCm38)	D143V	probably damaging	Het
Olfr548-ps1	T	C	7: 102,542,125 (GRCm38)	L63P	probably damaging	Het
Or14a260	T	C	7: 86,336,345 (GRCm38)	D17G	possibly damaging	Het
Or4a69	T	C	2: 89,482,248 (GRCm38)	M296V	probably null	Het
Or4b1d	A	G	2: 90,138,404 (GRCm38)	V245A	probably benign	Het
Or4c120	A	G	2: 89,170,937 (GRCm38)	S92P	probably damaging	Het
Or4f58	A	G	2: 112,021,404 (GRCm38)	V150A	probably benign	Het
Or8b44	A	G	9: 38,498,818 (GRCm38)	I50V	probably benign	Het
Or8g17	T	C	9: 39,019,025 (GRCm38)	D172G	probably benign	Het
Parp14	T	G	16: 35,857,224 (GRCm38)	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389 (GRCm38)	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801 (GRCm38)		probably benign	Het
Polr3b	C	A	10: 84,680,385 (GRCm38)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859 (GRCm38)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460 (GRCm38)	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982 (GRCm38)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005 (GRCm38)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130 (GRCm38)	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748 (GRCm38)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634 (GRCm38)	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536 (GRCm38)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050 (GRCm38)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347 (GRCm38)	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000 (GRCm38)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952 (GRCm38)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813 (GRCm38)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734 (GRCm38)		probably null	Het
Sidt2	A	G	9: 45,950,089 (GRCm38)	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364 (GRCm38)	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972 (GRCm38)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878 (GRCm38)	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975 (GRCm38)	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951 (GRCm38)	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452 (GRCm38)	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184 (GRCm38)		probably null	Het
Txk	A	C	5: 72,707,671 (GRCm38)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887 (GRCm38)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301 (GRCm38)		probably null	Het
Ubtfl1	T	G	9: 18,410,193 (GRCm38)	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505 (GRCm38)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653 (GRCm38)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786 (GRCm38)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270 (GRCm38)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496 (GRCm38)	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801 (GRCm38)	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975 (GRCm38)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573 (GRCm38)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675 (GRCm38)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433 (GRCm38)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972 (GRCm38)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771 (GRCm38)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731 (GRCm38)	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256 (GRCm38)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793 (GRCm38)	V430E	probably damaging	Het

Other mutations in Agps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Agps	APN	2	75,925,972 (GRCm38)	missense	probably benign	0.00
IGL01373:Agps	APN	2	75,852,784 (GRCm38)	missense	probably benign	0.00
IGL01958:Agps	APN	2	75,909,701 (GRCm38)	critical splice donor site	probably null
IGL02691:Agps	APN	2	75,891,860 (GRCm38)	missense	probably benign	0.04
R0087:Agps	UTSW	2	75,909,635 (GRCm38)	missense	probably damaging	1.00
R0323:Agps	UTSW	2	75,894,161 (GRCm38)	nonsense	probably null
R1116:Agps	UTSW	2	75,861,925 (GRCm38)	splice site	probably benign
R2049:Agps	UTSW	2	75,858,926 (GRCm38)	missense	probably benign
R4770:Agps	UTSW	2	75,891,855 (GRCm38)	missense	possibly damaging	0.94
R5418:Agps	UTSW	2	75,858,904 (GRCm38)	missense	probably damaging	1.00
R5457:Agps	UTSW	2	75,854,252 (GRCm38)	missense	probably benign	0.01
R6795:Agps	UTSW	2	75,894,058 (GRCm38)	missense	probably damaging	0.98
R7286:Agps	UTSW	2	75,852,784 (GRCm38)	missense	probably benign	0.22
R7367:Agps	UTSW	2	75,868,313 (GRCm38)	missense	possibly damaging	0.67
R7529:Agps	UTSW	2	75,832,352 (GRCm38)	missense	possibly damaging	0.85
R7842:Agps	UTSW	2	75,851,532 (GRCm38)	missense	probably damaging	1.00
R8416:Agps	UTSW	2	75,854,203 (GRCm38)	missense	probably benign
R9149:Agps	UTSW	2	75,866,838 (GRCm38)	missense	probably damaging	0.99
R9261:Agps	UTSW	2	75,854,506 (GRCm38)	intron	probably benign
R9371:Agps	UTSW	2	75,911,680 (GRCm38)	critical splice donor site	probably null
R9393:Agps	UTSW	2	75,904,912 (GRCm38)	missense	possibly damaging	0.67
R9453:Agps	UTSW	2	75,832,241 (GRCm38)	missense	probably damaging	0.99
R9555:Agps	UTSW	2	75,852,747 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTCTTGAAGGGGTTAGGGCACAA -3'
(R):5'- TGCTCCCAGAAGACTGGCACAT -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GGCACATGTTTAACATGACAGC -3'

Posted On

2014-04-13