Incidental Mutation 'IGL03204:Cfap20dc'
ID 413085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03204
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8644436 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 80 (I80T)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102996
AA Change: I80T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: I80T

DomainStartEndE-ValueType
Pfam:DUF667 1 188 1.7e-43 PFAM
low complexity region 344 358 N/A INTRINSIC
low complexity region 506 519 N/A INTRINSIC
low complexity region 568 578 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
low complexity region 639 650 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225744
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14a A T 9: 106,317,834 (GRCm39) F191I probably damaging Het
Actc1 A T 2: 113,880,011 (GRCm39) S201T possibly damaging Het
Ankrd36 T A 11: 5,534,023 (GRCm39) D291E possibly damaging Het
Bltp1 A G 3: 37,105,083 (GRCm39) probably benign Het
Btbd7 T A 12: 102,774,239 (GRCm39) R510* probably null Het
Eif4a3 A T 11: 119,184,442 (GRCm39) D249E possibly damaging Het
Elovl6 A G 3: 129,426,993 (GRCm39) M220V probably benign Het
Ets1 C T 9: 32,644,308 (GRCm39) S156L possibly damaging Het
Gja8 C T 3: 96,827,408 (GRCm39) V85I probably damaging Het
Glipr2 T A 4: 43,970,507 (GRCm39) D7E probably benign Het
Il22 C T 10: 118,041,085 (GRCm39) probably benign Het
Itln1 A G 1: 171,358,172 (GRCm39) V80A probably damaging Het
Kdr A T 5: 76,133,042 (GRCm39) C79S possibly damaging Het
Kif26a A T 12: 112,141,213 (GRCm39) H672L probably damaging Het
Klhl40 A T 9: 121,611,696 (GRCm39) T570S probably benign Het
Macf1 A G 4: 123,249,070 (GRCm39) probably benign Het
Magi3 T A 3: 104,013,151 (GRCm39) N112I probably damaging Het
Moxd2 T C 6: 40,864,239 (GRCm39) T64A probably benign Het
Myh4 T C 11: 67,141,122 (GRCm39) V728A possibly damaging Het
Or8u10 G T 2: 85,916,015 (GRCm39) Y35* probably null Het
Prkdc A G 16: 15,587,665 (GRCm39) I2517V probably benign Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Smg9 A G 7: 24,120,337 (GRCm39) E437G probably benign Het
Snx4 A G 16: 33,090,039 (GRCm39) K188R probably benign Het
Sox14 A G 9: 99,757,110 (GRCm39) S210P probably benign Het
Spata1 A G 3: 146,194,434 (GRCm39) F77L probably benign Het
Spata18 G T 5: 73,828,449 (GRCm39) probably benign Het
Stard9 G A 2: 120,536,283 (GRCm39) D4151N probably damaging Het
Wdr59 T C 8: 112,212,002 (GRCm39) H356R probably benign Het
Zfp462 A G 4: 55,080,785 (GRCm39) D1380G possibly damaging Het
Other mutations in Cfap20dc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Cfap20dc APN 14 8,473,370 (GRCm38) missense possibly damaging 0.57
IGL02010:Cfap20dc APN 14 8,578,384 (GRCm38) missense possibly damaging 0.68
IGL02385:Cfap20dc APN 14 8,510,920 (GRCm38) missense possibly damaging 0.59
IGL02431:Cfap20dc APN 14 8,659,424 (GRCm38) missense probably damaging 1.00
IGL02723:Cfap20dc APN 14 8,516,507 (GRCm38) missense probably benign 0.02
IGL02865:Cfap20dc APN 14 8,517,940 (GRCm38) missense probably benign 0.00
IGL03030:Cfap20dc APN 14 8,511,113 (GRCm38) missense probably damaging 1.00
IGL03014:Cfap20dc UTSW 14 8,431,608 (GRCm38) makesense probably null
R0197:Cfap20dc UTSW 14 8,518,695 (GRCm38) missense probably damaging 1.00
R0265:Cfap20dc UTSW 14 8,431,667 (GRCm38) missense probably damaging 1.00
R0513:Cfap20dc UTSW 14 8,536,609 (GRCm38) missense probably damaging 1.00
R0647:Cfap20dc UTSW 14 8,536,655 (GRCm38) missense possibly damaging 0.94
R1168:Cfap20dc UTSW 14 8,442,939 (GRCm38) missense probably benign 0.22
R1610:Cfap20dc UTSW 14 8,511,110 (GRCm38) missense probably benign 0.00
R1625:Cfap20dc UTSW 14 8,431,668 (GRCm38) missense probably damaging 1.00
R2010:Cfap20dc UTSW 14 8,511,021 (GRCm38) missense probably damaging 1.00
R2084:Cfap20dc UTSW 14 8,558,171 (GRCm38) missense probably damaging 1.00
R2174:Cfap20dc UTSW 14 8,558,109 (GRCm38) missense probably benign 0.02
R3802:Cfap20dc UTSW 14 8,510,931 (GRCm38) missense probably benign 0.00
R4244:Cfap20dc UTSW 14 8,482,521 (GRCm38) missense probably benign 0.00
R4471:Cfap20dc UTSW 14 8,536,571 (GRCm38) missense probably damaging 1.00
R4516:Cfap20dc UTSW 14 8,536,609 (GRCm38) missense probably damaging 1.00
R4824:Cfap20dc UTSW 14 8,665,997 (GRCm38) start codon destroyed probably null 0.93
R4884:Cfap20dc UTSW 14 8,578,394 (GRCm38) missense probably damaging 0.97
R4975:Cfap20dc UTSW 14 8,518,736 (GRCm38) missense probably benign 0.00
R5455:Cfap20dc UTSW 14 8,536,516 (GRCm38) critical splice donor site probably null
R6280:Cfap20dc UTSW 14 8,473,414 (GRCm38) critical splice acceptor site probably null
R6438:Cfap20dc UTSW 14 8,431,701 (GRCm38) missense probably damaging 0.98
R6639:Cfap20dc UTSW 14 8,536,530 (GRCm38) missense probably benign 0.12
R7101:Cfap20dc UTSW 14 8,511,171 (GRCm38) missense possibly damaging 0.75
R7456:Cfap20dc UTSW 14 8,442,933 (GRCm38) nonsense probably null
R8266:Cfap20dc UTSW 14 8,482,599 (GRCm38) nonsense probably null
R8854:Cfap20dc UTSW 14 8,518,638 (GRCm38) missense probably damaging 1.00
R9053:Cfap20dc UTSW 14 8,518,768 (GRCm38) critical splice acceptor site probably null
R9157:Cfap20dc UTSW 14 8,518,635 (GRCm38) missense probably benign 0.00
R9294:Cfap20dc UTSW 14 8,578,361 (GRCm38) missense possibly damaging 0.84
R9313:Cfap20dc UTSW 14 8,518,635 (GRCm38) missense probably benign 0.00
R9502:Cfap20dc UTSW 14 8,659,452 (GRCm38) missense probably damaging 0.98
Z1177:Cfap20dc UTSW 14 8,517,953 (GRCm38) nonsense probably null
Posted On 2016-08-02