Incidental Mutation 'IGL01549:Ccdc74a'
ID 90546
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 # IGL01549
Quality Score
Status
Chromosome 16
Chromosomal Location 17464340-17468602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17468406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 343 (S343G)
Ref Sequence ENSEMBL: ENSMUSP00000049541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012259] [ENSMUST00000056962] [ENSMUST00000080936] [ENSMUST00000182117] [ENSMUST00000182344] [ENSMUST00000182368] [ENSMUST00000231674] [ENSMUST00000232236] [ENSMUST00000232645]
AlphaFold E9Q9U8
Predicted Effect probably benign
Transcript: ENSMUST00000012259
SMART Domains Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114

DomainStartEndE-ValueType
Pfam:Med15 17 789 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056962
AA Change: S343G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
AA Change: S343G

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: 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: 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: ENSMUST00000183101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182526
Predicted Effect probably benign
Transcript: ENSMUST00000183279
Predicted Effect probably benign
Transcript: ENSMUST00000182671
Predicted Effect probably benign
Transcript: ENSMUST00000231674
Predicted Effect probably benign
Transcript: ENSMUST00000182976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231231
Predicted Effect probably benign
Transcript: ENSMUST00000232236
Predicted Effect probably benign
Transcript: ENSMUST00000232645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232012
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,601,106 (GRCm39) V259I possibly damaging Het
Abhd4 C T 14: 54,504,589 (GRCm39) T273I probably damaging Het
Adamtsl3 T C 7: 82,261,656 (GRCm39) S1691P probably damaging Het
Anapc1 A G 2: 128,495,090 (GRCm39) S901P probably benign Het
Ank3 C T 10: 69,768,250 (GRCm39) S56F probably damaging Het
Clec7a A T 6: 129,449,640 (GRCm39) Y3* probably null Het
Il6 A G 5: 30,224,469 (GRCm39) T170A probably benign Het
Itgax C A 7: 127,730,378 (GRCm39) probably null Het
Lrrc17 A T 5: 21,775,288 (GRCm39) R283S probably benign Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Or10j5 T C 1: 172,784,541 (GRCm39) Y60H probably damaging Het
Or13n4 T C 7: 106,423,236 (GRCm39) I166V probably benign Het
Or4c121 C T 2: 89,024,133 (GRCm39) V82I probably benign Het
Or4d10c T A 19: 12,065,329 (GRCm39) I276F probably benign Het
Or8k37 A C 2: 86,469,705 (GRCm39) S116A probably benign Het
Or8k37 T C 2: 86,469,876 (GRCm39) M59V possibly damaging Het
Pcnt A C 10: 76,203,320 (GRCm39) probably null Het
Pde4b A T 4: 102,462,265 (GRCm39) D647V probably damaging Het
Phldb2 T C 16: 45,594,681 (GRCm39) M875V probably benign Het
Prkar2b T C 12: 32,111,071 (GRCm39) E4G possibly damaging Het
Rab2a C A 4: 8,582,393 (GRCm39) S125Y probably benign Het
Samm50 A G 15: 84,086,982 (GRCm39) I264V probably benign Het
Sgsh C T 11: 119,241,755 (GRCm39) A90T probably damaging Het
Tap2 A G 17: 34,433,303 (GRCm39) T489A probably benign Het
Wdr38 T G 2: 38,890,730 (GRCm39) S201R probably damaging Het
Zfhx4 A G 3: 5,464,522 (GRCm39) D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 (GRCm39) T568A probably damaging Het
Other mutations in Ccdc74a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ccdc74a APN 16 17,467,661 (GRCm39) missense possibly damaging 0.51
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 2013-12-09