Incidental Mutation 'IGL03344:Chtf8'
ID417379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chtf8
Ensembl Gene ENSMUSG00000046691
Gene NameCTF8, chromosome transmission fidelity factor 8
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.365) question?
Stock #IGL03344
Quality Score
Status
Chromosome8
Chromosomal Location106883863-106893601 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106886272 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 12 (P12S)
Ref Sequence ENSEMBL: ENSMUSP00000134860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034385] [ENSMUST00000169312] [ENSMUST00000175940] [ENSMUST00000175987] [ENSMUST00000176090] [ENSMUST00000176437] [ENSMUST00000176515] [ENSMUST00000177068]
Predicted Effect probably benign
Transcript: ENSMUST00000034385
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 85 361 4e-22 PFAM
Pfam:Glycos_transf_2 183 300 4.5e-7 PFAM
Pfam:Glyco_transf_21 188 360 5.7e-8 PFAM
Pfam:Chitin_synth_2 198 451 7.7e-17 PFAM
Pfam:Glyco_trans_2_3 211 538 1.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169312
AA Change: P12S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: P12S

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
internal_repeat_1 37 246 5.18e-7 PROSPERO
low complexity region 258 269 N/A INTRINSIC
low complexity region 322 339 N/A INTRINSIC
internal_repeat_1 344 520 5.18e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000175940
SMART Domains Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 3 113 4.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175987
SMART Domains Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910

DomainStartEndE-ValueType
transmembrane domain 11 33 N/A INTRINSIC
transmembrane domain 43 65 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 85 251 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176090
SMART Domains Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 1 94 8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176437
AA Change: P12S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691
AA Change: P12S

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176515
SMART Domains Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 1 94 8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177068
SMART Domains Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 3 113 4.3e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Chtf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0751:Chtf8 UTSW 8 106886477 splice site probably null
R0927:Chtf8 UTSW 8 106885518 missense probably damaging 0.99
R2087:Chtf8 UTSW 8 106885936 nonsense probably null
R2359:Chtf8 UTSW 8 106885416 splice site probably null
R3938:Chtf8 UTSW 8 106885905 missense probably benign 0.01
R4902:Chtf8 UTSW 8 106885792 missense probably damaging 1.00
R7105:Chtf8 UTSW 8 106885251 missense probably damaging 0.96
R8092:Chtf8 UTSW 8 106886306 missense possibly damaging 0.87
R8512:Chtf8 UTSW 8 106885434 missense probably benign
Posted On2016-08-02