Incidental Mutation 'IGL01910:Ppan'
ID 179778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppan
Ensembl Gene ENSMUSG00000004100
Gene Name peter pan homolog
Synonyms A230087P06Rik, SSF1
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01910
Quality Score
Status
Chromosome 9
Chromosomal Location 20799471-20803474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20802232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 208 (R208C)
Ref Sequence ENSEMBL: ENSMUSP00000004203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004203] [ENSMUST00000004206] [ENSMUST00000214331]
AlphaFold Q91YU8
Predicted Effect probably damaging
Transcript: ENSMUST00000004203
AA Change: R208C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100
AA Change: R208C

DomainStartEndE-ValueType
Brix 32 286 1.13e-77 SMART
Blast:Brix 321 429 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000004206
SMART Domains Protein: ENSMUSP00000004206
Gene: ENSMUSG00000070319

DomainStartEndE-ValueType
Pfam:eIF3g 56 175 5.5e-45 PFAM
RRM 240 313 1.49e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158946
Predicted Effect unknown
Transcript: ENSMUST00000214331
AA Change: P182L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213454
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l A G 18: 31,904,995 (GRCm39) M79V probably benign Het
Arhgap5 T A 12: 52,563,644 (GRCm39) V205E probably benign Het
BC061237 T C 14: 44,743,445 (GRCm39) probably benign Het
Calr T A 8: 85,571,598 (GRCm39) probably benign Het
Celsr1 T C 15: 85,814,096 (GRCm39) N1942S probably benign Het
Cfap100 T C 6: 90,386,606 (GRCm39) D373G probably damaging Het
Chst9 C A 18: 15,585,931 (GRCm39) A211S possibly damaging Het
Ephb1 T C 9: 101,879,056 (GRCm39) E478G probably benign Het
Fbrsl1 A T 5: 110,511,602 (GRCm39) V387D probably damaging Het
Fxyd5 T C 7: 30,734,643 (GRCm39) I161V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hmx2 C T 7: 131,157,401 (GRCm39) R172C probably damaging Het
Itgam C T 7: 127,682,948 (GRCm39) A320V probably damaging Het
Macrod2 T A 2: 142,138,485 (GRCm39) N361K probably benign Het
Mbl1 T C 14: 40,875,703 (GRCm39) probably null Het
Nudt9 G A 5: 104,202,175 (GRCm39) G79R probably damaging Het
Rpl23a-ps1 A G 1: 46,020,940 (GRCm39) noncoding transcript Het
Slc17a1 A G 13: 24,062,440 (GRCm39) probably benign Het
Tep1 T C 14: 51,081,569 (GRCm39) T1269A probably benign Het
Vmn2r16 A T 5: 109,487,951 (GRCm39) N275Y probably damaging Het
Wdr93 T C 7: 79,421,321 (GRCm39) S405P probably damaging Het
Xcl1 T A 1: 164,759,458 (GRCm39) I81F probably damaging Het
Other mutations in Ppan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03162:Ppan APN 9 20,802,608 (GRCm39) missense probably damaging 1.00
R0279:Ppan UTSW 9 20,802,825 (GRCm39) missense probably benign 0.01
R1382:Ppan UTSW 9 20,803,214 (GRCm39) missense probably benign 0.08
R4406:Ppan UTSW 9 20,802,288 (GRCm39) missense probably damaging 1.00
R4724:Ppan UTSW 9 20,799,806 (GRCm39) missense probably benign 0.04
R5217:Ppan UTSW 9 20,802,221 (GRCm39) missense possibly damaging 0.46
R5275:Ppan UTSW 9 20,801,069 (GRCm39) nonsense probably null
R5946:Ppan UTSW 9 20,800,969 (GRCm39) nonsense probably null
R6540:Ppan UTSW 9 20,802,506 (GRCm39) splice site probably null
R7131:Ppan UTSW 9 20,802,450 (GRCm39) missense possibly damaging 0.94
R7227:Ppan UTSW 9 20,799,496 (GRCm39) unclassified probably benign
R7419:Ppan UTSW 9 20,803,140 (GRCm39) missense probably benign 0.03
R7883:Ppan UTSW 9 20,802,777 (GRCm39) missense probably benign 0.24
R9179:Ppan UTSW 9 20,803,199 (GRCm39) missense probably benign 0.00
R9357:Ppan UTSW 9 20,801,220 (GRCm39) missense possibly damaging 0.77
Posted On 2014-05-07