Incidental Mutation 'IGL03394:Ccdc30'
ID421201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc30
Ensembl Gene ENSMUSG00000028637
Gene Namecoiled-coil domain containing 30
Synonyms4930445I03Rik, 1700041C02Rik, 1700001O02Rik, 1700111D19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03394
Quality Score
Status
Chromosome4
Chromosomal Location119322893-119415521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119359582 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 220 (S220R)
Ref Sequence ENSEMBL: ENSMUSP00000070621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044781] [ENSMUST00000063642] [ENSMUST00000143494]
Predicted Effect probably damaging
Transcript: ENSMUST00000044781
AA Change: S153R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637
AA Change: S153R

DomainStartEndE-ValueType
low complexity region 85 99 N/A INTRINSIC
Pfam:DUF4686 103 286 1.5e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000063642
AA Change: S220R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: S220R

DomainStartEndE-ValueType
Pfam:DUF4686 170 547 5.1e-155 PFAM
low complexity region 555 568 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131141
Predicted Effect probably damaging
Transcript: ENSMUST00000143494
AA Change: S81R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637
AA Change: S81R

DomainStartEndE-ValueType
Pfam:DUF4686 31 169 3.1e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154606
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,324,351 L242P probably damaging Het
Adam22 T C 5: 8,167,379 I139V probably benign Het
Ahr G T 12: 35,503,752 Y789* probably null Het
Ankrd27 C A 7: 35,607,098 probably null Het
Ano1 T C 7: 144,595,439 probably null Het
Ap4e1 T A 2: 127,063,397 M996K probably benign Het
Bglap T C 3: 88,384,005 K42E probably benign Het
Clic5 A G 17: 44,237,218 N50S probably benign Het
Cyp20a1 T G 1: 60,366,681 D211E probably damaging Het
Dctn1 G A 6: 83,191,284 V408I possibly damaging Het
Exoc6 T C 19: 37,599,572 I551T probably benign Het
Fat4 C T 3: 38,892,019 T1687M probably damaging Het
Fat4 T A 3: 39,009,364 C4490S probably damaging Het
Fras1 T A 5: 96,667,477 I1351N probably damaging Het
Gm10031 A T 1: 156,525,222 Q331L probably benign Het
Igkv2-116 T C 6: 68,152,343 noncoding transcript Het
Iws1 T G 18: 32,088,248 probably benign Het
Mlh1 A T 9: 111,268,243 I61N probably damaging Het
Mtmr7 C T 8: 40,608,929 V38M probably damaging Het
Myh7 G T 14: 54,975,361 A1409D probably damaging Het
Myt1 A T 2: 181,797,845 I387F probably damaging Het
Nars2 A G 7: 97,040,013 N381D possibly damaging Het
Nsd3 T C 8: 25,675,749 probably benign Het
Nup107 A G 10: 117,782,028 S162P probably damaging Het
Olfr904 A G 9: 38,464,221 Y60C probably damaging Het
Oog2 T C 4: 144,194,006 F3S probably benign Het
Oxgr1 T C 14: 120,022,610 M62V possibly damaging Het
Pcgf1 A G 6: 83,079,140 Y75C probably damaging Het
Ppp3cc C A 14: 70,225,028 E396* probably null Het
Ptx4 T A 17: 25,124,675 C300S probably damaging Het
Rassf4 C T 6: 116,641,747 V192I probably damaging Het
Rundc3b T C 5: 8,548,261 T203A possibly damaging Het
Serpinb3c T C 1: 107,271,873 D306G probably benign Het
Sipa1l2 T C 8: 125,491,659 E313G possibly damaging Het
Snx5 G A 2: 144,253,754 A329V probably damaging Het
Stx1b T C 7: 127,807,884 D213G probably damaging Het
Tpd52l2 G A 2: 181,515,086 V172I probably benign Het
Trim50 A T 5: 135,363,953 I241F probably damaging Het
Ttn G A 2: 76,750,416 H23378Y probably benign Het
Vmn1r193 T A 13: 22,219,769 M18L probably benign Het
Vmn1r226 A G 17: 20,688,184 N226S probably benign Het
Vmn2r14 T A 5: 109,219,836 Q430L probably null Het
Xirp2 T A 2: 67,515,194 V2593D probably damaging Het
Zfp169 A T 13: 48,489,924 F576I possibly damaging Het
Zfp667 T C 7: 6,289,439 probably null Het
Zzef1 A G 11: 72,886,775 probably null Het
Other mutations in Ccdc30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ccdc30 APN 4 119393579 missense possibly damaging 0.93
IGL01546:Ccdc30 APN 4 119398188 missense probably damaging 0.99
IGL01691:Ccdc30 APN 4 119393564 missense probably damaging 0.96
IGL02178:Ccdc30 APN 4 119349724 unclassified probably benign
IGL02341:Ccdc30 APN 4 119356781 missense possibly damaging 0.83
IGL03063:Ccdc30 APN 4 119349767 missense possibly damaging 0.68
R1587:Ccdc30 UTSW 4 119353176 missense probably damaging 1.00
R1604:Ccdc30 UTSW 4 119331596 missense probably damaging 0.99
R1842:Ccdc30 UTSW 4 119331127 missense probably benign
R1962:Ccdc30 UTSW 4 119339791 missense probably benign 0.00
R2157:Ccdc30 UTSW 4 119333724 splice site probably benign
R2314:Ccdc30 UTSW 4 119324566 nonsense probably null
R2362:Ccdc30 UTSW 4 119324056 missense probably damaging 0.99
R3407:Ccdc30 UTSW 4 119324581 missense possibly damaging 0.63
R3755:Ccdc30 UTSW 4 119367808 critical splice donor site probably null
R3938:Ccdc30 UTSW 4 119352673 missense probably benign 0.02
R4762:Ccdc30 UTSW 4 119333588 missense probably damaging 0.98
R5014:Ccdc30 UTSW 4 119393627 missense possibly damaging 0.96
R5635:Ccdc30 UTSW 4 119359674 missense possibly damaging 0.66
R6282:Ccdc30 UTSW 4 119324017 missense probably damaging 0.98
R6382:Ccdc30 UTSW 4 119404166 missense possibly damaging 0.93
R6725:Ccdc30 UTSW 4 119331599 missense probably damaging 1.00
R6746:Ccdc30 UTSW 4 119356718 missense probably benign 0.03
R7230:Ccdc30 UTSW 4 119339782 missense possibly damaging 0.89
Posted On2016-08-02