Incidental Mutation 'IGL01861:Pafah1b1'
ID178332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pafah1b1
Ensembl Gene ENSMUSG00000020745
Gene Nameplatelet-activating factor acetylhydrolase, isoform 1b, subunit 1
SynonymsPafaha, lissencephaly-1 protein, Mdsh, PAF-AH 45, LIS-1, Lis1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01861
Quality Score
Status
Chromosome11
Chromosomal Location74673949-74724670 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74690577 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 22 (N22K)
Ref Sequence ENSEMBL: ENSMUSP00000118231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000102520] [ENSMUST00000155493]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021091
AA Change: N22K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745
AA Change: N22K

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: N22K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745
AA Change: N22K

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 possibly damaging
Transcript: ENSMUST00000155493
AA Change: N22K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118231
Gene: ENSMUSG00000020745
AA Change: N22K

DomainStartEndE-ValueType
LisH 7 39 6.12e-7 SMART
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 T C 17: 56,300,144 T34A possibly damaging Het
Atm C A 9: 53,494,612 R1252L probably null Het
Cd34 T C 1: 194,958,580 probably benign Het
Cmya5 A G 13: 93,089,748 V2944A probably damaging Het
Cntnap3 C T 13: 64,799,108 G169D probably damaging Het
Dnah7a T A 1: 53,640,349 T326S probably benign Het
Dnah7a C T 1: 53,584,449 probably benign Het
Fam133b A G 5: 3,564,242 probably benign Het
Fhod1 A G 8: 105,331,176 S906P probably damaging Het
Gli3 A G 13: 15,725,325 Y1099C probably damaging Het
Gpr63 C T 4: 25,008,545 T423M probably damaging Het
Hpx A T 7: 105,592,186 Y339* probably null Het
Lingo2 A T 4: 35,709,526 D151E probably benign Het
Mill2 A T 7: 18,856,640 Q215L probably damaging Het
Naf1 T C 8: 66,864,533 probably benign Het
Ndufv1 A G 19: 4,008,803 V235A probably benign Het
Olfr890 T C 9: 38,143,750 I205T probably damaging Het
Prune1 G T 3: 95,265,557 R66S probably damaging Het
Ptcd1 A T 5: 145,158,777 I291N possibly damaging Het
Ptprk A G 10: 28,383,445 I294V possibly damaging Het
Rfx6 G A 10: 51,721,579 V471M probably damaging Het
Rnase6 C A 14: 51,130,291 Q47K probably benign Het
Skint5 T C 4: 113,559,824 probably benign Het
Srcap T A 7: 127,525,285 probably benign Het
Stap1 A G 5: 86,096,524 I217V possibly damaging Het
Taf1d T C 9: 15,308,739 probably null Het
Tecta T C 9: 42,373,362 H809R probably benign Het
Tex15 A G 8: 33,570,689 N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,179,374 probably benign Het
Uhrf2 A G 19: 30,086,404 Y589C probably damaging Het
Zfp616 A T 11: 74,082,916 T4S possibly damaging Het
Zfp687 A T 3: 95,011,860 F200L probably damaging Het
Other mutations in Pafah1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Pafah1b1 APN 11 74683647 missense probably damaging 1.00
IGL02082:Pafah1b1 APN 11 74699333 missense probably benign 0.33
IGL03180:Pafah1b1 APN 11 74683518 missense possibly damaging 0.80
R0362:Pafah1b1 UTSW 11 74683631 missense probably benign 0.01
R0462:Pafah1b1 UTSW 11 74677715 missense probably benign 0.00
R1962:Pafah1b1 UTSW 11 74699351 start gained probably benign
R3176:Pafah1b1 UTSW 11 74690232 missense probably damaging 1.00
R3276:Pafah1b1 UTSW 11 74690232 missense probably damaging 1.00
R3615:Pafah1b1 UTSW 11 74690232 missense probably damaging 1.00
R3616:Pafah1b1 UTSW 11 74690232 missense probably damaging 1.00
R4326:Pafah1b1 UTSW 11 74682240 missense probably benign 0.04
R4327:Pafah1b1 UTSW 11 74682240 missense probably benign 0.04
R4328:Pafah1b1 UTSW 11 74682240 missense probably benign 0.04
R4776:Pafah1b1 UTSW 11 74685871 unclassified probably benign
R4985:Pafah1b1 UTSW 11 74685988 missense probably damaging 1.00
R5128:Pafah1b1 UTSW 11 74679436 intron probably benign
R5148:Pafah1b1 UTSW 11 74684452 missense probably damaging 0.99
R6406:Pafah1b1 UTSW 11 74682272 missense probably benign 0.02
R6437:Pafah1b1 UTSW 11 74677731 missense probably benign
X0064:Pafah1b1 UTSW 11 74689183 missense possibly damaging 0.62
Posted On2014-05-07