Incidental Mutation 'IGL01306:Ccdc38'
ID 73468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc38
Ensembl Gene ENSMUSG00000036168
Gene Name coiled-coil domain containing 38
Synonyms 4933417K05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL01306
Quality Score
Status
Chromosome 10
Chromosomal Location 93376494-93420189 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 93405797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092215] [ENSMUST00000132214]
AlphaFold Q8CDN8
Predicted Effect probably null
Transcript: ENSMUST00000092215
SMART Domains Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168

DomainStartEndE-ValueType
Pfam:DUF4200 112 230 4.4e-28 PFAM
low complexity region 280 289 N/A INTRINSIC
low complexity region 317 333 N/A INTRINSIC
coiled coil region 388 412 N/A INTRINSIC
coiled coil region 479 522 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128786
Predicted Effect probably null
Transcript: ENSMUST00000132214
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Ccdc38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01986:Ccdc38 APN 10 93,415,705 (GRCm39) missense probably damaging 1.00
IGL02396:Ccdc38 APN 10 93,409,994 (GRCm39) missense possibly damaging 0.61
IGL02568:Ccdc38 APN 10 93,415,685 (GRCm39) missense probably damaging 1.00
ANU23:Ccdc38 UTSW 10 93,405,797 (GRCm39) critical splice donor site probably null
R0004:Ccdc38 UTSW 10 93,409,964 (GRCm39) missense probably damaging 1.00
R0194:Ccdc38 UTSW 10 93,401,774 (GRCm39) nonsense probably null
R0371:Ccdc38 UTSW 10 93,398,674 (GRCm39) nonsense probably null
R1374:Ccdc38 UTSW 10 93,418,296 (GRCm39) splice site probably benign
R1388:Ccdc38 UTSW 10 93,417,702 (GRCm39) splice site probably benign
R1546:Ccdc38 UTSW 10 93,401,741 (GRCm39) missense probably benign 0.01
R2377:Ccdc38 UTSW 10 93,409,897 (GRCm39) missense probably damaging 1.00
R2419:Ccdc38 UTSW 10 93,384,837 (GRCm39) missense probably benign 0.23
R3949:Ccdc38 UTSW 10 93,386,081 (GRCm39) missense probably damaging 1.00
R5592:Ccdc38 UTSW 10 93,386,064 (GRCm39) missense possibly damaging 0.58
R5652:Ccdc38 UTSW 10 93,391,448 (GRCm39) splice site probably null
R5857:Ccdc38 UTSW 10 93,398,695 (GRCm39) missense possibly damaging 0.67
R5918:Ccdc38 UTSW 10 93,406,748 (GRCm39) nonsense probably null
R5919:Ccdc38 UTSW 10 93,414,700 (GRCm39) missense possibly damaging 0.95
R6057:Ccdc38 UTSW 10 93,417,608 (GRCm39) missense probably damaging 1.00
R6293:Ccdc38 UTSW 10 93,398,659 (GRCm39) nonsense probably null
R7511:Ccdc38 UTSW 10 93,398,662 (GRCm39) missense possibly damaging 0.92
R8006:Ccdc38 UTSW 10 93,391,448 (GRCm39) splice site probably null
R8206:Ccdc38 UTSW 10 93,399,146 (GRCm39) missense probably damaging 0.97
R8313:Ccdc38 UTSW 10 93,399,111 (GRCm39) missense probably damaging 1.00
R8904:Ccdc38 UTSW 10 93,411,197 (GRCm39) missense probably damaging 1.00
R9061:Ccdc38 UTSW 10 93,401,735 (GRCm39) missense probably damaging 1.00
Z1177:Ccdc38 UTSW 10 93,398,738 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07