Incidental Mutation 'IGL03164:Chtf18'
ID411555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chtf18
Ensembl Gene ENSMUSG00000019214
Gene NameCTF18, chromosome transmission fidelity factor 18
Synonyms6030457M03Rik, CTF18
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.479) question?
Stock #IGL03164
Quality Score
Status
Chromosome17
Chromosomal Location25718926-25727419 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25726842 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 94 (M94T)
Ref Sequence ENSEMBL: ENSMUSP00000131768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047273] [ENSMUST00000048054] [ENSMUST00000170070] [ENSMUST00000170575]
Predicted Effect probably benign
Transcript: ENSMUST00000047273
SMART Domains Protein: ENSMUSP00000043825
Gene: ENSMUSG00000041199

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 17 182 4.1e-27 PFAM
low complexity region 271 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048054
AA Change: M93T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: M93T

DomainStartEndE-ValueType
low complexity region 20 30 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
low complexity region 117 130 N/A INTRINSIC
low complexity region 154 168 N/A INTRINSIC
coiled coil region 228 255 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
low complexity region 343 354 N/A INTRINSIC
AAA 361 518 1.99e-11 SMART
low complexity region 646 661 N/A INTRINSIC
Blast:AAA 728 850 7e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168914
Predicted Effect probably benign
Transcript: ENSMUST00000170070
AA Change: M94T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131768
Gene: ENSMUSG00000019214
AA Change: M94T

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 155 169 N/A INTRINSIC
coiled coil region 229 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170575
AA Change: M94T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131366
Gene: ENSMUSG00000019214
AA Change: M94T

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 155 169 N/A INTRINSIC
coiled coil region 229 256 N/A INTRINSIC
low complexity region 300 311 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
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 protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, reduced body and testis weight, defective male meiosis, impaired spermatogenesis, oligozoospermia, and reduced male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,649 D256G probably damaging Het
Abcb11 A T 2: 69,291,999 L380* probably null Het
Aco1 A T 4: 40,167,116 N110I probably benign Het
Adamts9 T C 6: 92,889,937 D126G probably damaging Het
Anks1b T G 10: 90,042,692 V121G probably damaging Het
Ap1s3 A G 1: 79,625,170 L40P probably damaging Het
Cd19 C A 7: 126,413,509 M237I possibly damaging Het
Chil6 T C 3: 106,394,398 T129A probably benign Het
Clstn2 G T 9: 97,799,409 D59E possibly damaging Het
Ctnnbl1 A C 2: 157,817,761 M253L probably benign Het
Erg T C 16: 95,409,871 T41A possibly damaging Het
Gjc1 T A 11: 102,800,721 N152I possibly damaging Het
Ints1 A G 5: 139,752,735 L2084P probably damaging Het
Isoc1 C T 18: 58,673,332 S238L probably damaging Het
Kdm5a T A 6: 120,439,019 D1633E probably damaging Het
Krt76 T C 15: 101,887,451 D428G possibly damaging Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lrp2 G T 2: 69,464,699 T3425K probably damaging Het
Lta4h T C 10: 93,470,797 probably benign Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nlrp5 T A 7: 23,418,373 Y507* probably null Het
Nps T C 7: 135,272,310 S53P probably damaging Het
Olfr446 C T 6: 42,928,130 R300* probably null Het
Olfr491 T C 7: 108,317,694 S267P probably damaging Het
Oprk1 A T 1: 5,598,864 I178F probably damaging Het
Osgin2 G T 4: 16,001,938 S204R probably benign Het
Otop1 G T 5: 38,287,962 G155* probably null Het
Peli3 A G 19: 4,936,116 probably null Het
Pex7 T A 10: 19,894,715 probably benign Het
Pfkm T C 15: 98,131,962 L749P probably damaging Het
Pwp1 T A 10: 85,878,503 F103Y probably benign Het
Rhod T C 19: 4,432,801 K63E possibly damaging Het
Rtl1 T C 12: 109,592,933 E824G probably damaging Het
Sema4d A G 13: 51,708,922 F467L possibly damaging Het
Sept10 T C 10: 59,181,099 E201G probably damaging Het
Slc37a3 G A 6: 39,345,303 T389I probably benign Het
Slco2b1 C T 7: 99,685,536 A243T probably damaging Het
Sorbs2 A G 8: 45,782,874 T187A probably benign Het
Supt20 T A 3: 54,713,188 D389E probably benign Het
Tchh A G 3: 93,445,392 D713G unknown Het
Trappc10 T C 10: 78,220,242 R209G probably damaging Het
Unc119 A G 11: 78,348,176 D176G probably damaging Het
Usb1 G A 8: 95,333,484 R21Q probably damaging Het
Other mutations in Chtf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Chtf18 APN 17 25722116 missense probably benign 0.32
IGL02117:Chtf18 APN 17 25722203 missense possibly damaging 0.63
IGL03034:Chtf18 APN 17 25727346 utr 5 prime probably benign
IGL03051:Chtf18 APN 17 25720964 missense probably damaging 1.00
R0046:Chtf18 UTSW 17 25723460 missense probably benign 0.06
R0129:Chtf18 UTSW 17 25727311 nonsense probably null
R1122:Chtf18 UTSW 17 25724623 missense probably damaging 1.00
R1302:Chtf18 UTSW 17 25719158 missense probably damaging 1.00
R1487:Chtf18 UTSW 17 25720609 missense probably benign 0.00
R1614:Chtf18 UTSW 17 25727090 missense probably benign 0.00
R1820:Chtf18 UTSW 17 25725939 missense probably damaging 1.00
R4051:Chtf18 UTSW 17 25719194 missense probably damaging 0.98
R4357:Chtf18 UTSW 17 25719132 missense probably benign 0.09
R4529:Chtf18 UTSW 17 25720618 missense probably damaging 1.00
R4804:Chtf18 UTSW 17 25719257 missense probably benign
R4975:Chtf18 UTSW 17 25724566 missense possibly damaging 0.72
R5154:Chtf18 UTSW 17 25723720 missense probably damaging 1.00
R6113:Chtf18 UTSW 17 25722867 missense probably damaging 1.00
R6118:Chtf18 UTSW 17 25719159 missense probably damaging 1.00
R6446:Chtf18 UTSW 17 25721244 missense probably benign 0.01
R7057:Chtf18 UTSW 17 25721126 missense possibly damaging 0.49
R7095:Chtf18 UTSW 17 25722678 missense probably damaging 1.00
R7482:Chtf18 UTSW 17 25719989 missense possibly damaging 0.48
R7641:Chtf18 UTSW 17 25722275 splice site probably null
R7729:Chtf18 UTSW 17 25723517 missense probably damaging 1.00
R7939:Chtf18 UTSW 17 25722137 missense probably damaging 0.99
R8007:Chtf18 UTSW 17 25725534 missense probably damaging 0.96
R8051:Chtf18 UTSW 17 25723479 missense probably benign 0.05
R8296:Chtf18 UTSW 17 25722191 missense probably benign 0.00
R8321:Chtf18 UTSW 17 25720891 missense probably benign 0.32
Posted On2016-08-02