Incidental Mutation 'IGL02822:Pclaf'
ID 361043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pclaf
Ensembl Gene ENSMUSG00000040204
Gene Name PCNA clamp associated factor
Synonyms 2810417H13Rik, p15(PAF)
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02822
Quality Score
Status
Chromosome 9
Chromosomal Location 65797519-65810548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65808875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 108 (E108G)
Ref Sequence ENSEMBL: ENSMUSP00000038877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045802] [ENSMUST00000119245] [ENSMUST00000134338] [ENSMUST00000179395]
AlphaFold Q9CQX4
Predicted Effect possibly damaging
Transcript: ENSMUST00000045802
AA Change: E108G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038877
Gene: ENSMUSG00000040204
AA Change: E108G

DomainStartEndE-ValueType
Pfam:PAF 1 73 1.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083367
Predicted Effect probably benign
Transcript: ENSMUST00000119245
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386

DomainStartEndE-ValueType
Pfam:zf-C2HC5 167 219 8.8e-22 PFAM
low complexity region 302 322 N/A INTRINSIC
ASCH 437 545 2.63e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133747
Predicted Effect probably benign
Transcript: ENSMUST00000134338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143864
Predicted Effect probably benign
Transcript: ENSMUST00000179395
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386

DomainStartEndE-ValueType
Pfam:zf-C2HC5 167 219 8e-22 PFAM
low complexity region 302 322 N/A INTRINSIC
ASCH 437 535 3.19e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hematopoietic stem cell function and development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fbxw5 A G 2: 25,393,022 (GRCm39) N164S probably benign Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Ifitm1 T C 7: 140,548,191 (GRCm39) V8A possibly damaging Het
Kdelr1 A G 7: 45,523,288 (GRCm39) probably benign Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Matcap1 T C 8: 106,011,330 (GRCm39) Y268C probably damaging Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Naca C A 10: 127,875,214 (GRCm39) probably benign Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Pclaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1664:Pclaf UTSW 9 65,797,730 (GRCm39) missense probably benign 0.00
R1964:Pclaf UTSW 9 65,800,677 (GRCm39) missense probably damaging 1.00
R5119:Pclaf UTSW 9 65,798,062 (GRCm39) missense probably benign
Posted On 2015-12-18