Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Agps'

710647

Institutional Source

Beutler Lab

Gene Symbol

Agps

Ensembl Gene

ENSMUSG00000042410

Gene Name

alkylglycerone phosphate synthase

Synonyms

9930035G10Rik, bs2, ADAPS

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75662521-75761694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75735256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 567 (E567G)

Ref Sequence

ENSEMBL: ENSMUSP00000041967 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047232
AA Change: E567G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: E567G

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

possibly damaging
Transcript: ENSMUST00000175646
AA Change: E464G

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: E464G

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: ENSMUST00000176973

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,270 (GRCm39)	S133G	possibly damaging	Het
Ak9	T	C	10: 41,285,068 (GRCm39)	I1381T	unknown	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arrb1	T	A	7: 99,238,891 (GRCm39)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,330 (GRCm39)	I450V	probably benign	Het
Atp10b	A	G	11: 43,063,608 (GRCm39)	N181S	probably damaging	Het
Bptf	A	C	11: 106,965,134 (GRCm39)	D1353E	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc106	T	A	7: 5,059,200 (GRCm39)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,510,525 (GRCm39)	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,360,598 (GRCm39)	K212*	probably null	Het
Cryba4	T	C	5: 112,394,632 (GRCm39)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,342,035 (GRCm39)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,382,566 (GRCm39)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,074,710 (GRCm39)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,894,685 (GRCm39)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,872,361 (GRCm39)	V450D	possibly damaging	Het
Eml5	C	T	12: 98,842,433 (GRCm39)	V222I	probably benign	Het
Fbxw19	A	G	9: 109,324,873 (GRCm39)	S15P	probably damaging	Het
Fhip2b	G	A	14: 70,831,463 (GRCm39)	Q24*	probably null	Het
Fignl2	C	A	15: 100,951,466 (GRCm39)	R272L	unknown	Het
Gm10842	A	T	11: 105,037,885 (GRCm39)	D56V	unknown	Het
Gmps	T	A	3: 63,900,640 (GRCm39)	N305K	probably benign	Het
Gnai1	A	T	5: 18,565,055 (GRCm39)	L38Q		Het
Golim4	A	T	3: 75,785,464 (GRCm39)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,531,293 (GRCm39)	Q353L	unknown	Het
Gpnmb	T	C	6: 49,024,996 (GRCm39)	S343P	possibly damaging	Het
Hexb	G	A	13: 97,313,336 (GRCm39)	R507*	probably null	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,330,350 (GRCm39)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,853,981 (GRCm39)	D795E	probably benign	Het
Klkb1	A	T	8: 45,729,392 (GRCm39)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,764,664 (GRCm39)	C133*	probably null	Het
Krtcap2	T	C	3: 89,153,578 (GRCm39)		probably benign	Het
Lilra5	T	C	7: 4,240,758 (GRCm39)	M1T	probably null	Het
Magi1	G	A	6: 93,659,890 (GRCm39)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm39)	H1967Q		Het
Mgat4f	A	G	1: 134,318,596 (GRCm39)	D456G	probably benign	Het
Mroh2b	A	T	15: 4,980,666 (GRCm39)	T1412S	probably benign	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ncapd3	A	G	9: 26,962,682 (GRCm39)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,320,784 (GRCm39)		probably null	Het
Nrg4	C	T	9: 55,149,420 (GRCm39)	S59N	probably benign	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or11g24	T	C	14: 50,662,255 (GRCm39)	V93A	probably benign	Het
Or9k2	T	C	10: 129,999,016 (GRCm39)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,840,212 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,475,955 (GRCm39)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,571,296 (GRCm39)	Y787*	probably null	Het
Psma8	G	A	18: 14,839,298 (GRCm39)	R4Q	probably null	Het
Reg4	A	G	3: 98,137,168 (GRCm39)	K46E	probably benign	Het
Rnf14	T	A	18: 38,442,680 (GRCm39)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,263,586 (GRCm39)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,259,627 (GRCm39)	R275G	probably benign	Het
Stard9	A	G	2: 120,518,656 (GRCm39)	T527A	possibly damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas1r1	C	T	4: 152,116,413 (GRCm39)	C407Y	probably damaging	Het
Tcstv1b	A	T	13: 120,634,958 (GRCm39)	Y80F	probably benign	Het
Tenm3	A	G	8: 49,127,559 (GRCm39)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,183,066 (GRCm39)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,599,547 (GRCm39)	N511S	probably benign	Het
Tmprss15	A	G	16: 78,754,211 (GRCm39)	I1014T	probably benign	Het
Tpte	T	A	8: 22,774,990 (GRCm39)	M20K	probably benign	Het
Ttn	A	G	2: 76,612,390 (GRCm39)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,703,411 (GRCm39)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,212,613 (GRCm39)	V5081E	unknown	Het
Unkl	T	C	17: 25,448,392 (GRCm39)	S322P	probably damaging	Het
Uqcc6	A	G	10: 82,458,475 (GRCm39)	S59P	unknown	Het
Vav3	T	A	3: 109,485,682 (GRCm39)		probably null	Het
Vmn1r76	A	G	7: 11,664,765 (GRCm39)	S150P	probably benign	Het
Xpot	A	G	10: 121,445,600 (GRCm39)		probably null	Het
Xylt1	A	G	7: 117,242,906 (GRCm39)	I650V	probably benign	Het
Zan	C	A	5: 137,403,682 (GRCm39)	A3955S	unknown	Het

Other mutations in Agps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Agps	APN	2	75,756,316 (GRCm39)	missense	probably benign	0.00
IGL01373:Agps	APN	2	75,683,128 (GRCm39)	missense	probably benign	0.00
IGL01958:Agps	APN	2	75,740,045 (GRCm39)	critical splice donor site	probably null
IGL02691:Agps	APN	2	75,722,204 (GRCm39)	missense	probably benign	0.04
R0087:Agps	UTSW	2	75,739,979 (GRCm39)	missense	probably damaging	1.00
R0323:Agps	UTSW	2	75,724,505 (GRCm39)	nonsense	probably null
R1116:Agps	UTSW	2	75,692,269 (GRCm39)	splice site	probably benign
R1511:Agps	UTSW	2	75,697,123 (GRCm39)	missense	probably damaging	1.00
R2049:Agps	UTSW	2	75,689,270 (GRCm39)	missense	probably benign
R4770:Agps	UTSW	2	75,722,199 (GRCm39)	missense	possibly damaging	0.94
R5418:Agps	UTSW	2	75,689,248 (GRCm39)	missense	probably damaging	1.00
R5457:Agps	UTSW	2	75,684,596 (GRCm39)	missense	probably benign	0.01
R6795:Agps	UTSW	2	75,724,402 (GRCm39)	missense	probably damaging	0.98
R7286:Agps	UTSW	2	75,683,128 (GRCm39)	missense	probably benign	0.22
R7367:Agps	UTSW	2	75,698,657 (GRCm39)	missense	possibly damaging	0.67
R7529:Agps	UTSW	2	75,662,696 (GRCm39)	missense	possibly damaging	0.85
R7842:Agps	UTSW	2	75,681,876 (GRCm39)	missense	probably damaging	1.00
R8416:Agps	UTSW	2	75,684,547 (GRCm39)	missense	probably benign
R9149:Agps	UTSW	2	75,697,182 (GRCm39)	missense	probably damaging	0.99
R9261:Agps	UTSW	2	75,684,850 (GRCm39)	intron	probably benign
R9371:Agps	UTSW	2	75,742,024 (GRCm39)	critical splice donor site	probably null
R9453:Agps	UTSW	2	75,662,585 (GRCm39)	missense	probably damaging	0.99
R9555:Agps	UTSW	2	75,683,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCCTTCTAGATGTAGAGGCCAG -3'
(R):5'- TGCGCCTTAGCTAGAAAACTAG -3'

Sequencing Primer
(F):5'- CTTCTAGATGTAGAGGCCAGTCAGC -3'
(R):5'- CCACAGGTAAAAGTGCTTGCTATGC -3'

Posted On

2022-04-18