Incidental Mutation 'R6725:Ccdc30'
ID529809
Institutional Source Beutler Lab
Gene Symbol Ccdc30
Ensembl Gene ENSMUSG00000028637
Gene Namecoiled-coil domain containing 30
Synonyms4930445I03Rik, 1700041C02Rik, 1700001O02Rik, 1700111D19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6725 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location119322893-119415521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119331599 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 490 (Q490L)
Ref Sequence ENSEMBL: ENSMUSP00000070621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063642]
Predicted Effect probably damaging
Transcript: ENSMUST00000063642
AA Change: Q490L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: Q490L

DomainStartEndE-ValueType
Pfam:DUF4686 170 547 5.1e-155 PFAM
low complexity region 555 568 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154606
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 113,743,201 Y623C probably damaging Het
Adgrv1 T C 13: 81,437,557 E4596G probably damaging Het
Adgrv1 A T 13: 81,493,210 C3267S probably damaging Het
Ankrd40 T G 11: 94,334,815 V224G probably benign Het
Ap3s2 C T 7: 79,920,642 probably benign Het
Apip T A 2: 103,092,525 D229E possibly damaging Het
Atp2b4 C T 1: 133,706,987 R1168H probably benign Het
Bcan T C 3: 87,995,484 K329R possibly damaging Het
Camk1g T C 1: 193,350,320 D261G possibly damaging Het
Ccdc83 A G 7: 90,247,053 W103R probably damaging Het
Ctsl T A 13: 64,366,623 R69* probably null Het
Dchs1 C T 7: 105,758,793 R1944H probably damaging Het
Fgb T C 3: 83,043,791 Y305C probably damaging Het
Fras1 T A 5: 96,781,340 Y3868N possibly damaging Het
Gal3st2 T A 1: 93,873,702 S27T probably benign Het
Galnt13 A G 2: 54,855,232 D228G probably damaging Het
Gk5 A T 9: 96,155,470 T346S probably benign Het
Gnrhr T C 5: 86,185,313 I233V probably damaging Het
Greb1 T C 12: 16,688,567 Y1465C probably damaging Het
H6pd A G 4: 149,996,358 L10P probably damaging Het
Hspg2 G A 4: 137,515,307 G611E probably damaging Het
Ighv7-4 A T 12: 114,222,869 D94E probably damaging Het
Lamb3 T C 1: 193,304,582 Y59H probably benign Het
Msantd1 C T 5: 34,921,421 T100I probably damaging Het
Msx3 T A 7: 140,048,746 probably benign Het
Mttp C A 3: 138,107,238 A559S probably damaging Het
Myh1 C G 11: 67,201,893 D4E probably damaging Het
Olfr1018 A G 2: 85,823,790 K273R probably damaging Het
Olfr1221 G T 2: 89,112,296 T72N possibly damaging Het
Olfr1295 C T 2: 111,564,907 C179Y probably damaging Het
Olfr596 A T 7: 103,310,354 D211V probably damaging Het
Pcdhac1 T C 18: 37,090,328 Y65H probably damaging Het
Pcdhga8 A T 18: 37,727,262 Y457F probably damaging Het
Pi4ka A G 16: 17,376,982 L184P possibly damaging Het
Pja2 A T 17: 64,289,967 M514K probably damaging Het
Plcxd2 T C 16: 45,972,125 N284D probably damaging Het
Polr3d A T 14: 70,441,137 M129K probably benign Het
Ppp1r42 T G 1: 9,999,507 E110A probably damaging Het
Prdm2 G A 4: 143,132,901 T1273M possibly damaging Het
Prelid2 A G 18: 41,912,449 I132T possibly damaging Het
Sergef G A 7: 46,632,667 probably null Het
Slc24a2 C A 4: 87,226,882 probably null Het
Stxbp3 A T 3: 108,827,600 D24E possibly damaging Het
Tas2r123 A T 6: 132,847,838 M233L probably damaging Het
Thsd7a G A 6: 12,555,631 H85Y possibly damaging Het
Tlr2 T A 3: 83,838,296 E160V probably benign Het
Tmem171 A T 13: 98,692,170 C157* probably null Het
Trpm3 T C 19: 22,926,028 Y1051H probably damaging Het
Vmn2r28 A G 7: 5,488,409 F280L probably benign Het
Xpo7 A T 14: 70,676,813 Y748N probably damaging Het
Zan T C 5: 137,438,520 S2024G unknown Het
Zfhx2 A T 14: 55,064,082 Y2148* probably null Het
Zscan4-ps1 T C 7: 11,065,979 T328A probably benign 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
IGL03394:Ccdc30 APN 4 119359582 missense probably damaging 1.00
G1patch:Ccdc30 UTSW 4 119331599 missense probably damaging 1.00
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
R6746:Ccdc30 UTSW 4 119356718 missense probably benign 0.03
R7230:Ccdc30 UTSW 4 119339782 missense possibly damaging 0.89
R7576:Ccdc30 UTSW 4 119349866 missense probably damaging 1.00
R7673:Ccdc30 UTSW 4 119353172 missense probably damaging 1.00
R7719:Ccdc30 UTSW 4 119333616 missense probably damaging 1.00
R7895:Ccdc30 UTSW 4 119352713 splice site probably null
R8021:Ccdc30 UTSW 4 119352679 missense probably benign 0.00
R8113:Ccdc30 UTSW 4 119373746 missense probably benign 0.32
R8696:Ccdc30 UTSW 4 119377308 missense possibly damaging 0.92
R8713:Ccdc30 UTSW 4 119404207 missense probably damaging 0.99
R8885:Ccdc30 UTSW 4 119324562 missense probably damaging 0.97
R8948:Ccdc30 UTSW 4 119324161 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCACTAACTGCACACTCTG -3'
(R):5'- TGCAAACAGGAGGCATCTAGC -3'

Sequencing Primer
(F):5'- TGGCACTCCCAGTCTCCAG -3'
(R):5'- GCATAACTAAGAATGATGCCAAACTG -3'
Posted On2018-08-01