Incidental Mutation 'R0350:Ccdc130'
ID29655
Institutional Source Beutler Lab
Gene Symbol Ccdc130
Ensembl Gene ENSMUSG00000004994
Gene Namecoiled-coil domain containing 130
Synonyms
MMRRC Submission 038557-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #R0350 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location84257795-84270380 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84260648 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 99 (E99K)
Ref Sequence ENSEMBL: ENSMUSP00000096177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000163993] [ENSMUST00000172320]
Predicted Effect probably damaging
Transcript: ENSMUST00000005120
AA Change: E99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: E99K

DomainStartEndE-ValueType
Pfam:DUF572 1 198 1.7e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000005122
SMART Domains Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996

DomainStartEndE-ValueType
Pfam:IF-2B 40 152 9.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098578
AA Change: E99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: E99K

DomainStartEndE-ValueType
Pfam:DUF572 1 384 1.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125498
SMART Domains Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996

DomainStartEndE-ValueType
Pfam:IF-2B 2 226 5.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126435
SMART Domains Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996

DomainStartEndE-ValueType
Pfam:IF-2B 44 346 4.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140850
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
SMART Domains Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994

DomainStartEndE-ValueType
Pfam:DUF572 1 68 1.4e-31 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 9,987,600 Y66N probably damaging Het
Apol6 C T 15: 77,050,947 Q139* probably null Het
Armh1 C A 4: 117,215,556 E244* probably null Het
BC052040 T C 2: 115,776,930 Y255H possibly damaging Het
Cd1d1 A T 3: 86,997,573 H219Q probably benign Het
Cdca2 A G 14: 67,713,119 L121P probably benign Het
Cog4 T A 8: 110,853,696 L133I possibly damaging Het
Csf1 T C 3: 107,748,606 M370V probably benign Het
Ddi2 G A 4: 141,685,523 T26M probably benign Het
Dhcr7 A G 7: 143,837,770 D32G probably damaging Het
Exd1 T C 2: 119,523,566 N337S possibly damaging Het
Flii T C 11: 60,721,857 D227G probably damaging Het
Gm11639 T C 11: 104,690,880 V16A probably benign Het
Hsf1 A G 15: 76,500,479 T485A probably benign Het
Igfn1 G A 1: 135,956,767 R2614* probably null Het
Iqch T C 9: 63,500,876 T630A probably benign Het
Itgal T A 7: 127,322,081 D770E probably damaging Het
Mroh1 T A 15: 76,432,249 V759E probably damaging Het
Mrps17 A G 5: 129,718,145 probably benign Het
Mtpap A G 18: 4,396,195 S496G possibly damaging Het
Nkd1 T A 8: 88,585,216 Y39* probably null Het
Nmd3 A G 3: 69,743,574 Y359C probably damaging Het
Nr1h3 G A 2: 91,191,825 L153F possibly damaging Het
Nuf2 T A 1: 169,513,543 probably null Het
Olfr1218 T A 2: 89,055,356 K23N probably benign Het
Olfr1272 T C 2: 90,282,582 probably null Het
Olfr870 A T 9: 20,170,736 Y278* probably null Het
Pnn T C 12: 59,067,117 probably null Het
Ppm1j A G 3: 104,783,371 D230G probably benign Het
Ppp1r15a A T 7: 45,523,018 L650Q probably damaging Het
Prss37 T C 6: 40,514,959 E229G probably damaging Het
Rbm19 T C 5: 120,128,307 V465A possibly damaging Het
Rubcnl G T 14: 75,040,891 V372F probably damaging Het
Sema6a G T 18: 47,270,718 D595E probably benign Het
Slc35c1 A G 2: 92,459,032 F43S probably damaging Het
Slc39a5 C T 10: 128,396,750 probably null Het
Slco4c1 A G 1: 96,828,849 F583L probably benign Het
Sox9 A G 11: 112,784,876 Y297C probably damaging Het
Taf1b A G 12: 24,514,885 D167G possibly damaging Het
Trpm6 T C 19: 18,883,957 probably null Het
Uba6 A C 5: 86,144,378 V402G possibly damaging Het
Usp43 T C 11: 67,876,498 Y682C probably damaging Het
Vmn1r195 A G 13: 22,279,233 D291G probably damaging Het
Xpr1 A T 1: 155,330,468 F156Y probably damaging Het
Zfp318 T A 17: 46,413,198 H2042Q probably benign Het
Zfp937 T A 2: 150,239,302 D417E possibly 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
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
R5631:Ccdc130 UTSW 8 84263881 missense probably damaging 0.99
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
R8549:Ccdc130 UTSW 8 84258770 missense probably benign 0.05
Z1088:Ccdc130 UTSW 8 84258909 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACATGGCATCCGTCTCCAGCTTC -3'
(R):5'- GTATGCAAGCCTGTGTGTCTTCCTC -3'

Sequencing Primer
(F):5'- TCATGCTCTGCAAGGACC -3'
(R):5'- TCAGGGTTCGCCCAGATG -3'
Posted On2013-04-24