Incidental Mutation 'IGL01598:Pcif1'
ID91745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcif1
Ensembl Gene ENSMUSG00000039849
Gene NamePDX1 C-terminal inhibiting factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL01598
Quality Score
Status
Chromosome2
Chromosomal Location164879304-164894454 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 164886611 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 263 (F263L)
Ref Sequence ENSEMBL: ENSMUSP00000039555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041643]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041643
AA Change: F263L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: F263L

DomainStartEndE-ValueType
WW 44 77 4.34e-4 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:PCIF1_WW 445 620 7.1e-74 PFAM
low complexity region 675 686 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145327
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,478,929 noncoding transcript Het
Apc2 T A 10: 80,313,048 L1283Q probably damaging Het
Apol6 G A 15: 77,050,716 A62T probably damaging Het
AU018091 A T 7: 3,162,270 I204N possibly damaging Het
B4galnt4 G T 7: 141,070,515 R765L probably benign Het
Brca1 T C 11: 101,524,330 T993A probably benign Het
Cadps C T 14: 12,522,202 probably null Het
Ccdc177 A G 12: 80,758,745 S252P unknown Het
Cdc73 A G 1: 143,699,279 S59P probably damaging Het
Cep63 G T 9: 102,590,458 Q570K possibly damaging Het
Ces1c A T 8: 93,118,413 I120K probably benign Het
Cpeb1 T C 7: 81,361,801 M131V probably benign Het
Dync1h1 G A 12: 110,658,128 V3701I probably damaging Het
Fxr1 T C 3: 34,064,232 S535P possibly damaging Het
Gldc A T 19: 30,133,756 V540D probably damaging Het
Iqcf6 A G 9: 106,627,508 T124A probably benign Het
Itih4 A G 14: 30,887,817 I35V possibly damaging Het
Kmt2c T C 5: 25,273,666 *1525W probably null Het
Kmt2c A T 5: 25,354,771 V963E probably damaging Het
Lmnb2 T C 10: 80,907,165 S202G probably benign Het
Med23 T G 10: 24,903,798 S924R probably benign Het
Olfr1454 T C 19: 13,064,149 V246A probably damaging Het
Pon2 A T 6: 5,272,331 L163H probably damaging Het
Scn1a C T 2: 66,302,485 V165M possibly damaging Het
Sema6d C A 2: 124,665,098 P961Q probably damaging Het
Snx27 A G 3: 94,561,843 Y64H probably damaging Het
Srsf11 C T 3: 158,012,035 probably benign Het
Taok1 A G 11: 77,571,684 V193A probably damaging Het
Vps13d T C 4: 145,016,901 T4137A probably benign Het
Zbtb26 T C 2: 37,436,271 Y251C probably damaging Het
Zcchc11 A G 4: 108,550,820 probably benign Het
Other mutations in Pcif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Pcif1 APN 2 164885788 missense probably damaging 1.00
R0313:Pcif1 UTSW 2 164884419 missense probably damaging 0.97
R0329:Pcif1 UTSW 2 164889444 missense probably damaging 1.00
R0330:Pcif1 UTSW 2 164889444 missense probably damaging 1.00
R1070:Pcif1 UTSW 2 164889138 missense probably benign 0.01
R1350:Pcif1 UTSW 2 164886767 missense probably damaging 0.99
R1467:Pcif1 UTSW 2 164889138 missense probably benign 0.01
R1467:Pcif1 UTSW 2 164889138 missense probably benign 0.01
R1583:Pcif1 UTSW 2 164886727 missense probably damaging 1.00
R1640:Pcif1 UTSW 2 164885683 missense probably benign
R1852:Pcif1 UTSW 2 164888466 missense probably damaging 0.97
R2252:Pcif1 UTSW 2 164890879 missense probably benign 0.05
R2571:Pcif1 UTSW 2 164884211 missense probably damaging 1.00
R3879:Pcif1 UTSW 2 164885958 missense probably benign 0.40
R4956:Pcif1 UTSW 2 164889690 missense probably damaging 1.00
R5792:Pcif1 UTSW 2 164885379 missense probably damaging 0.97
R5913:Pcif1 UTSW 2 164884492 intron probably benign
R6798:Pcif1 UTSW 2 164885791 missense possibly damaging 0.94
R6913:Pcif1 UTSW 2 164884304 critical splice acceptor site probably null
R7359:Pcif1 UTSW 2 164884331 missense probably damaging 1.00
R7453:Pcif1 UTSW 2 164888364 missense probably damaging 1.00
R7453:Pcif1 UTSW 2 164889630 missense possibly damaging 0.94
R7917:Pcif1 UTSW 2 164888472 missense probably benign 0.08
R8031:Pcif1 UTSW 2 164886522 missense probably damaging 1.00
R8474:Pcif1 UTSW 2 164888352 missense probably damaging 1.00
R8519:Pcif1 UTSW 2 164884383 missense probably damaging 1.00
R8553:Pcif1 UTSW 2 164886497 missense probably damaging 1.00
R8766:Pcif1 UTSW 2 164885426 missense probably benign 0.00
Posted On2013-12-09