Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Pafah1b1'

367955

Institutional Source

Beutler Lab

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

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74564775-74615210 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 74576697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000102520] [ENSMUST00000155493]

AlphaFold

P63005

Predicted Effect

probably benign
Transcript: ENSMUST00000021091

SMART Domains

Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745

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 benign
Transcript: ENSMUST00000102520

SMART Domains

Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745

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

probably benign
Transcript: ENSMUST00000155493

SMART Domains

Protein: ENSMUSP00000118231
Gene: ENSMUSG00000020745

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156794

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,293,346 (GRCm39)	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,421,644 (GRCm39)	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,884,739 (GRCm39)	I373T	probably benign	Het
Amotl1	G	A	9: 14,504,669 (GRCm39)	Q217*	probably null	Het
Ankrd28	A	T	14: 31,454,011 (GRCm39)	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,550,970 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,529,995 (GRCm39)	S245T	probably benign	Het
Atp1b2	A	T	11: 69,492,387 (GRCm39)	D224E	probably damaging	Het
Bmal1	A	T	7: 112,884,244 (GRCm39)	K94I	probably damaging	Het
Boc	G	A	16: 44,308,084 (GRCm39)	R924W	probably damaging	Het
Btbd8	C	A	5: 107,658,317 (GRCm39)	A1117E	probably damaging	Het
Car14	C	T	3: 95,806,185 (GRCm39)	G292D	probably benign	Het
Cenpb	T	C	2: 131,020,103 (GRCm39)		probably benign	Het
Ces1b	A	T	8: 93,789,658 (GRCm39)	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,808,556 (GRCm39)	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 99,655,748 (GRCm39)		probably benign	Het
Cic	T	G	7: 24,982,308 (GRCm39)	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,336,685 (GRCm39)	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452 (GRCm39)	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,658,705 (GRCm39)	D1779V	probably damaging	Het
Dock9	G	T	14: 121,847,509 (GRCm39)	H1016N	possibly damaging	Het
Dxo	T	C	17: 35,057,974 (GRCm39)	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,318,983 (GRCm39)	F78I	probably damaging	Het
Eri2	A	G	7: 119,384,169 (GRCm39)		probably benign	Het
Fbxw7	T	G	3: 84,832,996 (GRCm39)	L13V	possibly damaging	Het
Fgf7	T	A	2: 125,877,703 (GRCm39)	C23*	probably null	Het
Fubp1	T	A	3: 151,927,705 (GRCm39)		probably null	Het
Gm2663	A	T	6: 40,972,887 (GRCm39)	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,366,846 (GRCm39)	Q140*	probably null	Het
Gnptab	G	A	10: 88,272,390 (GRCm39)	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,472,302 (GRCm39)	W544*	probably null	Het
Gucy2c	C	T	6: 136,699,512 (GRCm39)	E586K	probably damaging	Het
Hc	T	A	2: 34,929,746 (GRCm39)	E232V	probably benign	Het
Ifi207	T	A	1: 173,557,622 (GRCm39)	D372V	unknown	Het
Igkv8-28	A	T	6: 70,121,102 (GRCm39)	V15E	probably benign	Het
Il1rap	A	G	16: 26,511,549 (GRCm39)	S198G	possibly damaging	Het
Lct	A	G	1: 128,228,124 (GRCm39)	I1123T	probably damaging	Het
Lhcgr	T	C	17: 89,050,125 (GRCm39)	E467G	probably damaging	Het
Macf1	C	T	4: 123,369,808 (GRCm39)	R86K	probably benign	Het
Maml3	T	A	3: 51,763,953 (GRCm39)	Q337L	probably benign	Het
Marchf10	T	A	11: 105,280,863 (GRCm39)	D474V	probably benign	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mast1	A	G	8: 85,663,822 (GRCm39)		probably null	Het
Med12l	T	C	3: 59,140,633 (GRCm39)	I868T	probably damaging	Het
Msrb1	T	C	17: 24,959,147 (GRCm39)	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,069,125 (GRCm39)	L342P	probably benign	Het
Nrxn3	T	A	12: 90,298,730 (GRCm39)	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,842,029 (GRCm39)	D248V	probably damaging	Het
Oaz3	T	C	3: 94,342,305 (GRCm39)	Q117R	probably benign	Het
Or2a56	A	G	6: 42,932,455 (GRCm39)	I8V	probably benign	Het
Or4f58	A	G	2: 111,851,276 (GRCm39)	Y308H	probably benign	Het
Or52e2	A	G	7: 102,804,621 (GRCm39)	L111P	probably benign	Het
Osbpl3	A	C	6: 50,277,953 (GRCm39)	S767A	probably benign	Het
Pard6b	A	G	2: 167,940,708 (GRCm39)	T232A	probably damaging	Het
Paxip1	A	T	5: 27,970,204 (GRCm39)	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,573,818 (GRCm39)	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932 (GRCm38)		probably benign	Het
Relch	T	A	1: 105,647,260 (GRCm39)	Y683*	probably null	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sel1l	T	A	12: 91,780,667 (GRCm39)	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,990,313 (GRCm39)	L105Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,171,501 (GRCm39)	K227E	probably benign	Het
Slc25a34	A	T	4: 141,350,899 (GRCm39)	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,232,918 (GRCm39)	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,075,808 (GRCm39)	D731V	probably null	Het
Sox6	T	G	7: 115,140,905 (GRCm39)	K483N	probably damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,628,256 (GRCm39)	D882E	probably benign	Het
Syne4	T	C	7: 30,016,258 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,620,391 (GRCm39)	F2170S	probably damaging	Het
Tec	T	C	5: 72,926,119 (GRCm39)	Y289C	probably benign	Het
Tmem102	A	T	11: 69,695,628 (GRCm39)	Y115N	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav17	T	A	14: 54,044,097 (GRCm39)	M1K	probably null	Het
Trdn	T	A	10: 33,275,078 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,477,747 (GRCm39)	I8F	probably benign	Het
Ttn	T	A	2: 76,585,006 (GRCm39)	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,837,836 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,936,813 (GRCm39)		probably null	Het
Upp1	T	C	11: 9,085,976 (GRCm39)	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,296,082 (GRCm39)	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,817,770 (GRCm39)	G449D	probably damaging	Het
Vps37b	T	C	5: 124,144,675 (GRCm39)	K165E	probably damaging	Het
Vwf	A	T	6: 125,543,268 (GRCm39)	I185F	possibly damaging	Het
Wasf2	A	G	4: 132,912,315 (GRCm39)	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,793,952 (GRCm39)	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,981,623 (GRCm39)	S57P	probably benign	Het
Zxdc	A	G	6: 90,347,500 (GRCm39)	H287R	probably damaging	Het

Other mutations in Pafah1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pafah1b1	APN	11	74,574,473 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTGGACTAATTCACGTGACCTG -3'
(R):5'- AGACTGGAGATTTTGAGCGAAC -3'

Sequencing Primer
(F):5'- AATTCACGTGACCTGTCAGTTTTTC -3'
(R):5'- TTGAGCGAACTCTCAAGGGC -3'

Posted On

2015-12-29