Incidental Mutation 'R5631:Ccdc130'
ID439860
Institutional Source Beutler Lab
Gene Symbol Ccdc130
Ensembl Gene ENSMUSG00000004994
Gene Namecoiled-coil domain containing 130
Synonyms
MMRRC Submission 043282-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #R5631 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location84257795-84270380 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 84263881 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 41 (Q41K)
Ref Sequence ENSEMBL: ENSMUSP00000096177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000163993] [ENSMUST00000172320]
Predicted Effect probably damaging
Transcript: ENSMUST00000005120
AA Change: Q41K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: Q41K

DomainStartEndE-ValueType
Pfam:DUF572 1 198 1.7e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098578
AA Change: Q41K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: Q41K

DomainStartEndE-ValueType
Pfam:DUF572 1 384 1.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166728
Predicted Effect probably benign
Transcript: ENSMUST00000172320
AA Change: Q41K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994
AA Change: Q41K

DomainStartEndE-ValueType
Pfam:DUF572 1 68 1.4e-31 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,176,764 V567L possibly damaging Het
Abraxas1 T G 5: 100,817,974 Y68S probably damaging Het
Adamtsl1 C T 4: 86,276,923 Q543* probably null Het
Anapc1 T C 2: 128,657,217 Y845C possibly damaging Het
Ap4m1 A G 5: 138,174,789 *98W probably null Het
Ccdc144b G C 3: 36,046,877 Q49E probably damaging Het
Clock G A 5: 76,230,338 P572S probably benign Het
Cramp1l T A 17: 24,985,603 T275S possibly damaging Het
Dock3 T C 9: 106,955,699 S1038G probably benign Het
Fancm T C 12: 65,113,843 V1397A probably damaging Het
Fn1 T C 1: 71,590,196 T2203A probably damaging Het
Heatr5a T A 12: 51,955,527 I209F probably benign Het
Hfm1 A G 5: 106,904,763 S285P probably damaging Het
Hpx A T 7: 105,595,601 C126S probably damaging Het
Ipo4 A G 14: 55,632,069 V378A probably damaging Het
Ipo4 C T 14: 55,633,381 V265I probably benign Het
Kcnv1 T A 15: 45,109,357 T377S probably damaging Het
Kmt2a A T 9: 44,820,688 probably benign Het
Ldlrad3 T C 2: 102,069,956 D67G probably damaging Het
Lrrc71 T A 3: 87,739,149 M535L probably benign Het
Mfhas1 G A 8: 35,588,419 R16Q probably damaging Het
Mrc1 A T 2: 14,328,572 K1355* probably null Het
Mrgprf A G 7: 145,308,546 I282V probably benign Het
Mvb12b G T 2: 33,827,703 P142Q probably damaging Het
Naip6 T C 13: 100,300,138 I626V probably benign Het
Ncoa5 T C 2: 165,013,121 D27G possibly damaging Het
Nrap T G 19: 56,354,121 E780A probably benign Het
Olfr1133 A T 2: 87,645,608 S172T probably benign Het
Oplah T C 15: 76,305,241 I228V probably benign Het
Pkdrej T C 15: 85,820,437 M433V probably benign Het
Polr3h T A 15: 81,925,912 probably benign Het
Ppfibp1 T C 6: 146,996,860 Y105H probably damaging Het
Rplp2 A C 7: 141,451,259 probably benign Het
Rps6ka4 T C 19: 6,830,977 probably benign Het
Rspry1 A T 8: 94,629,078 M1L possibly damaging Het
Runx1 C A 16: 92,695,563 R64L possibly damaging Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Slc9a5 C T 8: 105,349,509 H45Y possibly damaging Het
Smc4 T C 3: 69,030,312 I890T probably benign Het
Smtnl1 T C 2: 84,818,754 E52G probably benign Het
Stag3 T A 5: 138,295,877 I319N probably damaging Het
Stt3b G A 9: 115,254,845 T421I probably benign Het
Thumpd1 A G 7: 119,720,602 L47P probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Top2b T C 14: 16,409,882 Y850H probably damaging Het
Trim34a A T 7: 104,248,739 E158V probably damaging Het
Trp53i13 C A 11: 77,509,593 probably null Het
Ugt3a2 T C 15: 9,361,885 V249A probably damaging Het
Vmn1r128 G A 7: 21,349,375 M1I probably null Het
Yars T G 4: 129,209,749 L297R probably damaging Het
Zkscan3 A G 13: 21,394,533 L176P probably damaging Het
Other mutations in Ccdc130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Ccdc130 APN 8 84260534 splice site probably benign
IGL02536:Ccdc130 APN 8 84260616 nonsense probably null
IGL02810:Ccdc130 APN 8 84264368 splice site probably benign
R0350:Ccdc130 UTSW 8 84260648 missense probably damaging 1.00
R0567:Ccdc130 UTSW 8 84260665 missense probably damaging 1.00
R1807:Ccdc130 UTSW 8 84260307 missense probably damaging 1.00
R2209:Ccdc130 UTSW 8 84263869 missense probably benign 0.00
R3933:Ccdc130 UTSW 8 84260352 missense probably benign 0.08
R3949:Ccdc130 UTSW 8 84258824 missense probably benign 0.03
R4633:Ccdc130 UTSW 8 84260395 missense probably benign 0.06
R4715:Ccdc130 UTSW 8 84263874 missense probably damaging 1.00
R4722:Ccdc130 UTSW 8 84258810 missense probably benign 0.00
R5001:Ccdc130 UTSW 8 84258675 missense probably benign 0.10
R5874:Ccdc130 UTSW 8 84258548 missense possibly damaging 0.92
R6434:Ccdc130 UTSW 8 84263001 missense probably damaging 1.00
R6467:Ccdc130 UTSW 8 84258689 missense probably benign
R7259:Ccdc130 UTSW 8 84260317 missense probably damaging 1.00
R7822:Ccdc130 UTSW 8 84261782 missense probably damaging 1.00
Z1088:Ccdc130 UTSW 8 84258909 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAATGAAGGAAGACGGCCTC -3'
(R):5'- AAGAATGAGTCCCCTCCTCCTC -3'

Sequencing Primer
(F):5'- GTCCTTCCAAGCCCAGAAGAGG -3'
(R):5'- GTCCCCTCCTCCTCGGGAG -3'
Posted On2016-11-08