Incidental Mutation 'R6540:Ppan'
ID 520696
Institutional Source Beutler Lab
Gene Symbol Ppan
Ensembl Gene ENSMUSG00000004100
Gene Name peter pan homolog
Synonyms A230087P06Rik, SSF1
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 20799471-20803474 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 20802506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000004203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004203] [ENSMUST00000004206] [ENSMUST00000214331]
AlphaFold Q91YU8
Predicted Effect probably null
Transcript: ENSMUST00000004203
SMART Domains Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100

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: ENSMUST00000216133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213454
Predicted Effect probably benign
Transcript: ENSMUST00000214331
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,660,779 (GRCm39) Y143H possibly damaging Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Cep95 T A 11: 106,692,328 (GRCm39) D169E probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Ighv7-4 A G 12: 114,186,470 (GRCm39) Y101H possibly damaging Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp729a A G 13: 67,767,767 (GRCm39) C821R possibly damaging Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P probably damaging Het
Other mutations in Ppan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Ppan APN 9 20,802,232 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGACATCAGTGAGCTGCTG -3'
(R):5'- TCTGTCAACGTCACAGTGGG -3'

Sequencing Primer
(F):5'- TGAGCTGCTGGCCACGTAAG -3'
(R):5'- TCACAGTGGGACTCGACACTG -3'
Posted On 2018-06-06