Incidental Mutation 'IGL01014:Ccdc74a'
ID 54022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc74a
Ensembl Gene ENSMUSG00000041617
Gene Name coiled-coil domain containing 74A
Synonyms 2310015A05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01014
Quality Score
Status
Chromosome 16
Chromosomal Location 17464340-17468602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17467661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 200 (T200S)
Ref Sequence ENSEMBL: ENSMUSP00000049541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006053] [ENSMUST00000012259] [ENSMUST00000056962] [ENSMUST00000080936] [ENSMUST00000090159] [ENSMUST00000163476] [ENSMUST00000182117] [ENSMUST00000182344] [ENSMUST00000182368] [ENSMUST00000232236] [ENSMUST00000232645]
AlphaFold E9Q9U8
Predicted Effect probably benign
Transcript: ENSMUST00000006053
SMART Domains Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 768 N/A PFAM
transmembrane domain 769 791 N/A INTRINSIC
transmembrane domain 798 815 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000012259
SMART Domains Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114

DomainStartEndE-ValueType
Pfam:Med15 17 789 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056962
AA Change: T200S

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
AA Change: T200S

DomainStartEndE-ValueType
low complexity region 12 34 N/A INTRINSIC
Pfam:CCDC92 50 105 4.1e-24 PFAM
low complexity region 154 164 N/A INTRINSIC
Pfam:CCDC74_C 209 326 1.4e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080936
SMART Domains Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114

DomainStartEndE-ValueType
Pfam:Med15 17 749 1.2e-276 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090159
SMART Domains Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 288 7.4e-177 PFAM
Pfam:mit_SMPDase 287 752 9.4e-259 PFAM
transmembrane domain 753 775 N/A INTRINSIC
transmembrane domain 782 799 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163476
SMART Domains Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 289 6.2e-177 PFAM
Pfam:mit_SMPDase 285 739 9.8e-266 PFAM
transmembrane domain 740 762 N/A INTRINSIC
transmembrane domain 769 786 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182526
Predicted Effect probably benign
Transcript: ENSMUST00000182117
SMART Domains Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617

DomainStartEndE-ValueType
low complexity region 1 21 N/A INTRINSIC
Pfam:CCDC92 36 97 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182344
SMART Domains Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617

DomainStartEndE-ValueType
Pfam:CCDC92 18 79 1.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182671
Predicted Effect probably benign
Transcript: ENSMUST00000183279
Predicted Effect probably benign
Transcript: ENSMUST00000182976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231480
Predicted Effect probably benign
Transcript: ENSMUST00000182368
SMART Domains Protein: ENSMUSP00000138262
Gene: ENSMUSG00000041617

DomainStartEndE-ValueType
low complexity region 12 34 N/A INTRINSIC
Pfam:CCDC92 49 110 2.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232012
Predicted Effect probably benign
Transcript: ENSMUST00000232236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232417
Predicted Effect probably benign
Transcript: ENSMUST00000232645
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,455,576 (GRCm39) M401I probably benign Het
Adgra1 C T 7: 139,455,577 (GRCm39) H402Y probably damaging Het
Akap13 T C 7: 75,400,381 (GRCm39) probably benign Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Aox1 T C 1: 58,361,960 (GRCm39) F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 (GRCm39) R36C probably damaging Het
Art2a C A 7: 101,204,115 (GRCm39) C141F probably damaging Het
Brwd1 A G 16: 95,817,373 (GRCm39) F1380L probably benign Het
Cadps2 A T 6: 23,496,873 (GRCm39) N102K possibly damaging Het
Ccdc30 C A 4: 119,250,776 (GRCm39) R22L possibly damaging Het
Cd200 G A 16: 45,215,063 (GRCm39) T196I probably benign Het
Cd244a A G 1: 171,401,856 (GRCm39) Y194C probably damaging Het
Cdh23 T C 10: 60,143,301 (GRCm39) T3009A probably damaging Het
Clec12b T A 6: 129,362,393 (GRCm39) N21Y probably damaging Het
Cntln A G 4: 84,968,145 (GRCm39) E788G probably benign Het
Col11a1 C T 3: 113,917,458 (GRCm39) probably benign Het
Cttnbp2 T A 6: 18,423,894 (GRCm39) N810I probably damaging Het
Dhx15 A T 5: 52,309,266 (GRCm39) V719D probably damaging Het
Dnah6 A G 6: 73,051,764 (GRCm39) probably benign Het
Dnajc13 A G 9: 104,080,417 (GRCm39) I888T probably damaging Het
Fasn T C 11: 120,708,055 (GRCm39) K666E probably damaging Het
Gnas C T 2: 174,139,767 (GRCm39) probably benign Het
Lmntd2 T C 7: 140,793,952 (GRCm39) Q7R probably damaging Het
Lmo7 G A 14: 102,157,993 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,026,559 (GRCm39) I155T possibly damaging Het
Meis3 C T 7: 15,912,872 (GRCm39) probably benign Het
Mib2 C T 4: 155,742,187 (GRCm39) V334M probably damaging Het
Myo3a A G 2: 22,337,284 (GRCm39) I386V probably benign Het
Neb C A 2: 52,177,170 (GRCm39) M1390I probably benign Het
Nmd3 G A 3: 69,633,719 (GRCm39) V69I probably benign Het
Nsmce3 G T 7: 64,522,382 (GRCm39) D95E possibly damaging Het
Or4c12 T C 2: 89,773,604 (GRCm39) Y285C probably damaging Het
Or4f58 A G 2: 111,851,477 (GRCm39) S241P probably damaging Het
Or5w16 T C 2: 87,577,469 (GRCm39) F310L probably benign Het
Pde4d T C 13: 110,086,036 (GRCm39) V538A probably damaging Het
Pgap6 T A 17: 26,335,983 (GRCm39) probably benign Het
Plxnb1 A T 9: 108,935,102 (GRCm39) H982L probably benign Het
Pold2 G T 11: 5,822,293 (GRCm39) Q459K probably benign Het
Ptpn14 G A 1: 189,554,830 (GRCm39) R130Q probably damaging Het
Rnf10 A T 5: 115,395,042 (GRCm39) L182Q probably damaging Het
Syne2 G A 12: 75,952,051 (GRCm39) D440N probably damaging Het
Tlcd1 G A 11: 78,070,283 (GRCm39) probably null Het
Tpte A T 8: 22,810,898 (GRCm39) Y185F probably benign Het
Other mutations in Ccdc74a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Ccdc74a APN 16 17,468,406 (GRCm39) missense probably benign
IGL03144:Ccdc74a APN 16 17,466,730 (GRCm39) missense possibly damaging 0.70
R0390:Ccdc74a UTSW 16 17,468,340 (GRCm39) missense probably benign 0.32
R1756:Ccdc74a UTSW 16 17,468,332 (GRCm39) missense possibly damaging 0.51
R2062:Ccdc74a UTSW 16 17,467,890 (GRCm39) missense probably benign 0.00
R4697:Ccdc74a UTSW 16 17,467,613 (GRCm39) missense possibly damaging 0.88
R4864:Ccdc74a UTSW 16 17,466,736 (GRCm39) missense probably benign 0.00
R6074:Ccdc74a UTSW 16 17,464,591 (GRCm39) nonsense probably null
R6341:Ccdc74a UTSW 16 17,465,978 (GRCm39) missense probably damaging 0.99
R6404:Ccdc74a UTSW 16 17,467,889 (GRCm39) missense possibly damaging 0.95
R7843:Ccdc74a UTSW 16 17,464,613 (GRCm39) missense
R7943:Ccdc74a UTSW 16 17,468,416 (GRCm39) missense probably benign
R9175:Ccdc74a UTSW 16 17,468,042 (GRCm39) missense probably benign
Posted On 2013-06-28