Incidental Mutation 'IGL03180:Pafah1b1'
ID 412179
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 # IGL03180
Quality Score
Status
Chromosome 11
Chromosomal Location 74564775-74615210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74574344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 281 (C281S)
Ref Sequence ENSEMBL: ENSMUSP00000099578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000102520]
AlphaFold P63005
Predicted Effect possibly damaging
Transcript: ENSMUST00000021091
AA Change: C281S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745
AA Change: C281S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000102520
AA Change: C281S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745
AA Change: C281S

DomainStartEndE-ValueType
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,082,951 (GRCm39) Y321H probably benign Het
Adam28 T A 14: 68,874,883 (GRCm39) I265L probably damaging Het
Adcy8 T C 15: 64,655,799 (GRCm39) D560G possibly damaging Het
Aff3 A G 1: 38,574,743 (GRCm39) M79T probably damaging Het
Ahctf1 A G 1: 179,602,895 (GRCm39) probably null Het
Aspn C T 13: 49,716,991 (GRCm39) R256W probably damaging Het
Birc6 T C 17: 74,966,226 (GRCm39) V4051A probably benign Het
Cfap46 G A 7: 139,183,168 (GRCm39) L2584F unknown Het
Chdh T A 14: 29,756,559 (GRCm39) probably null Het
Clasp1 A G 1: 118,433,255 (GRCm39) T245A probably benign Het
Clec4a1 G A 6: 122,901,777 (GRCm39) V70I probably benign Het
Cpt2 A T 4: 107,764,157 (GRCm39) S536T probably damaging Het
Dnah9 A T 11: 65,777,465 (GRCm39) H3694Q probably damaging Het
Dntt T A 19: 41,017,990 (GRCm39) F38Y probably benign Het
Dync2i1 T C 12: 116,182,485 (GRCm39) S706G probably benign Het
Eif4ebp2 T C 10: 61,269,589 (GRCm39) E117G probably damaging Het
Eif5b T C 1: 38,075,350 (GRCm39) I609T probably damaging Het
Esam G A 9: 37,445,866 (GRCm39) G135S probably damaging Het
Fut7 C A 2: 25,315,465 (GRCm39) A241D possibly damaging Het
Grin2d T A 7: 45,502,753 (GRCm39) K706M probably damaging Het
Grip2 A G 6: 91,762,742 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,220,087 (GRCm39) T22A probably damaging Het
Hadh T C 3: 131,065,533 (GRCm39) I42V probably benign Het
Iqsec3 T A 6: 121,390,467 (GRCm39) probably benign Het
Izumo3 G A 4: 92,034,524 (GRCm39) probably benign Het
Ldlrad1 G T 4: 107,075,032 (GRCm39) C193F probably damaging Het
Lgals4 G A 7: 28,537,053 (GRCm39) G118R probably damaging Het
Map4k1 A C 7: 28,687,510 (GRCm39) E136A probably damaging Het
Mapk8ip1 G T 2: 92,217,257 (GRCm39) P346Q possibly damaging Het
Mrtfb A G 16: 13,216,196 (GRCm39) K303E probably damaging Het
Nlrp14 T A 7: 106,781,833 (GRCm39) H343Q probably benign Het
Ogg1 T G 6: 113,310,455 (GRCm39) probably null Het
Or12k8 C T 2: 36,975,722 (GRCm39) V13M possibly damaging Het
Or5m10 A T 2: 85,717,740 (GRCm39) M199L probably benign Het
Pacc1 G T 1: 191,071,089 (GRCm39) V82F probably damaging Het
Papss1 C T 3: 131,313,143 (GRCm39) R386W probably damaging Het
Pex5 A G 6: 124,390,522 (GRCm39) probably benign Het
Pibf1 C A 14: 99,370,780 (GRCm39) Q261K probably benign Het
Plcb3 T C 19: 6,933,521 (GRCm39) S935G probably benign Het
Polg A G 7: 79,101,601 (GRCm39) probably benign Het
Ptpdc1 G A 13: 48,739,553 (GRCm39) T626I probably damaging Het
Rab34 A T 11: 78,081,144 (GRCm39) Y87F probably damaging Het
Rsrc1 T G 3: 66,989,876 (GRCm39) probably benign Het
Ryr2 T C 13: 11,583,449 (GRCm39) N4735S possibly damaging Het
Scn7a T C 2: 66,506,578 (GRCm39) D1437G possibly damaging Het
Sdk1 A G 5: 142,071,497 (GRCm39) E1229G probably damaging Het
Sez6l A T 5: 112,584,151 (GRCm39) V806D probably damaging Het
Sgsm2 A C 11: 74,759,401 (GRCm39) probably null Het
Sla A G 15: 66,661,569 (GRCm39) I121T probably benign Het
Son T C 16: 91,453,896 (GRCm39) L881S probably damaging Het
Srms A G 2: 180,854,573 (GRCm39) probably benign Het
Stoml1 T C 9: 58,168,200 (GRCm39) S304P probably damaging Het
Stt3a T C 9: 36,670,552 (GRCm39) D73G probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Trp53i13 T C 11: 77,403,528 (GRCm39) probably benign Het
Vmn2r77 A G 7: 86,450,843 (GRCm39) Y243C possibly damaging Het
Vwde T C 6: 13,205,764 (GRCm39) D261G probably damaging Het
Zfpm2 A G 15: 40,964,790 (GRCm39) K293R probably damaging Het
Other mutations in Pafah1b1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02