Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Pafah1b1'

73052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pafah1b1

Ensembl Gene

ENSMUSG00000020745

Gene Name

platelet-activating factor acetylhydrolase, isoform 1b, subunit 1

Synonyms

lissencephaly-1 protein, PAF-AH 45, Pafaha, Mdsh, Lis1, LIS-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

74564775-74615210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74574473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 238 (R238S)

Ref Sequence

ENSEMBL: ENSMUSP00000099578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000102520]

AlphaFold

P63005

Predicted Effect

probably damaging
Transcript: ENSMUST00000021091
AA Change: R238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745
AA Change: R238S

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102520
AA Change: R238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745
AA Change: R238S

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156794

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Pafah1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Pafah1b1	APN	11	74,581,403 (GRCm39)	missense	possibly damaging	0.81
IGL02082:Pafah1b1	APN	11	74,590,159 (GRCm39)	missense	probably benign	0.33
IGL03180:Pafah1b1	APN	11	74,574,344 (GRCm39)	missense	possibly damaging	0.80
hotspur	UTSW	11	74,573,098 (GRCm39)	missense	probably benign	0.02
picador	UTSW	11	74,568,557 (GRCm39)	missense	probably benign
R0362:Pafah1b1	UTSW	11	74,574,457 (GRCm39)	missense	probably benign	0.01
R0462:Pafah1b1	UTSW	11	74,568,541 (GRCm39)	missense	probably benign	0.00
R1962:Pafah1b1	UTSW	11	74,590,177 (GRCm39)	start gained	probably benign
R3176:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3276:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3615:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3616:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R4326:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4327:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4328:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4776:Pafah1b1	UTSW	11	74,576,697 (GRCm39)	unclassified	probably benign
R4985:Pafah1b1	UTSW	11	74,576,814 (GRCm39)	missense	probably damaging	1.00
R5128:Pafah1b1	UTSW	11	74,570,262 (GRCm39)	intron	probably benign
R5148:Pafah1b1	UTSW	11	74,575,278 (GRCm39)	missense	probably damaging	0.99
R6406:Pafah1b1	UTSW	11	74,573,098 (GRCm39)	missense	probably benign	0.02
R6437:Pafah1b1	UTSW	11	74,568,557 (GRCm39)	missense	probably benign
R7229:Pafah1b1	UTSW	11	74,573,104 (GRCm39)	missense	probably damaging	0.99
R7480:Pafah1b1	UTSW	11	74,576,740 (GRCm39)	missense	probably damaging	1.00
R8115:Pafah1b1	UTSW	11	74,575,319 (GRCm39)	missense	probably damaging	1.00
R9042:Pafah1b1	UTSW	11	74,574,493 (GRCm39)	missense	probably benign	0.27
X0064:Pafah1b1	UTSW	11	74,580,009 (GRCm39)	missense	possibly damaging	0.62
Z1176:Pafah1b1	UTSW	11	74,581,067 (GRCm39)	missense	probably damaging	1.00
Z1176:Pafah1b1	UTSW	11	74,579,945 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07