Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Agps'

571857

Institutional Source

Beutler Lab

Gene Symbol

Agps

Ensembl Gene

ENSMUSG00000042410

Gene Name

alkylglycerone phosphate synthase

Synonyms

9930035G10Rik, bs2, ADAPS

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75662521-75761694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75698657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 348 (H348Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041967 (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: H348Q

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

SMART Domains

Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: H348Q

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 benign
Transcript: ENSMUST00000111952
AA Change: H348Q

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: H348Q

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 benign
Transcript: ENSMUST00000175646
AA Change: H245Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: H245Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Ankrd34b	C	A	13: 92,574,795 (GRCm39)	T9K	probably benign	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Flacc1	A	T	1: 58,706,023 (GRCm39)	I282N	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc32	G	T	7: 98,148,086 (GRCm39)	E289*	probably null	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or2c1	A	G	16: 3,657,166 (GRCm39)	T110A	probably damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	probably damaging	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
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
R9393:Agps	UTSW	2	75,735,256 (GRCm39)	missense	possibly damaging	0.67
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'- AGTCTTTGTGGCTACAGTAGAACTC -3'
(R):5'- GAGTAAGTCATTCTCAGAAAACCC -3'

Sequencing Primer
(F):5'- TGGCTACAGTAGAACTCACAAAAAG -3'
(R):5'- AAGTCATTCTCAGAAAACCCTTATG -3'

Posted On

2019-09-13