Incidental Mutation 'R7943:Ccdc13'
ID656361
Institutional Source Beutler Lab
Gene Symbol Ccdc13
Ensembl Gene ENSMUSG00000079235
Gene Namecoiled-coil domain containing 13
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R7943 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location121797627-121839461 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121799130 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 97 (C97R)
Ref Sequence ENSEMBL: ENSMUSP00000128061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135986] [ENSMUST00000142783] [ENSMUST00000155511]
Predicted Effect silent
Transcript: ENSMUST00000135986
SMART Domains Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235

DomainStartEndE-ValueType
coiled coil region 19 46 N/A INTRINSIC
coiled coil region 70 103 N/A INTRINSIC
coiled coil region 139 178 N/A INTRINSIC
coiled coil region 206 248 N/A INTRINSIC
low complexity region 293 304 N/A INTRINSIC
coiled coil region 323 370 N/A INTRINSIC
coiled coil region 428 458 N/A INTRINSIC
coiled coil region 550 604 N/A INTRINSIC
coiled coil region 648 670 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000142783
SMART Domains Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235

DomainStartEndE-ValueType
coiled coil region 68 122 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000155511
AA Change: C97R
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,686,222 T205I probably benign Het
Acsbg1 T C 9: 54,622,737 H225R probably damaging Het
Anks1 T A 17: 27,985,204 Y209N probably damaging Het
Appl1 T A 14: 26,945,568 I377L probably benign Het
Arl9 A T 5: 77,010,548 D159V probably damaging Het
Arsa A C 15: 89,474,089 L339R probably damaging Het
C2 A G 17: 34,872,378 L380P probably damaging Het
Ccdc74a A G 16: 17,650,552 H346R probably benign Het
Ccnl1 T C 3: 65,956,905 I152V probably benign Het
Cd4 C T 6: 124,870,244 probably null Het
Ceacam5 A T 7: 17,745,566 I203L probably benign Het
Ckap2 C A 8: 22,175,074 R458L probably damaging Het
Cldn10 T C 14: 118,861,859 probably null Het
Col27a1 C T 4: 63,318,283 R1377C unknown Het
Cry1 A T 10: 85,143,120 M514K probably benign Het
Crybg2 T G 4: 134,072,984 V176G probably damaging Het
Cyp2j5 C T 4: 96,659,612 G131D possibly damaging Het
Ddx46 A G 13: 55,669,722 Y720C probably damaging Het
Dock10 A T 1: 80,648,289 V44D probably damaging Het
Enam A T 5: 88,488,551 probably null Het
Fam184a C A 10: 53,633,706 E126* probably null Het
Fam184a C T 10: 53,647,041 A956T probably damaging Het
Fbxw10 A T 11: 62,850,661 R202* probably null Het
Fnip1 A G 11: 54,502,388 E550G probably damaging Het
Gm37596 A T 3: 93,692,763 C100S probably benign Het
Gm8300 C T 12: 87,517,003 A36V probably damaging Het
Gpr149 A G 3: 62,530,711 L675P probably damaging Het
Hivep3 T C 4: 120,132,357 Y2002H probably benign Het
Hp A G 8: 109,575,555 Y254H probably damaging Het
Ighg1 G T 12: 113,330,337 T62N Het
Jcad A G 18: 4,672,700 E154G probably damaging Het
Kmt2a A G 9: 44,849,140 S471P probably damaging Het
Med13 A G 11: 86,278,526 V1968A probably damaging Het
Mknk2 T A 10: 80,675,867 Q3L probably benign Het
Nup98 G A 7: 102,194,822 T65I probably benign Het
Olfr1028 A G 2: 85,951,998 T312A probably benign Het
Olfr1499 A T 19: 13,815,236 M118K probably damaging Het
Olfr585 G A 7: 103,097,946 M68I probably damaging Het
Olfr763 T A 10: 129,012,065 M260K possibly damaging Het
Pcdhgb4 C T 18: 37,722,010 T486I probably benign Het
Perm1 T A 4: 156,218,534 F512I probably damaging Het
Pgap3 A T 11: 98,390,401 L262Q probably damaging Het
Pklr A C 3: 89,141,507 Y126S probably damaging Het
Ppl C T 16: 5,088,861 R1190H probably damaging Het
Ppm1k T C 6: 57,524,828 T117A probably benign Het
Prkd2 G A 7: 16,850,319 E366K probably benign Het
Psd C A 19: 46,324,730 C67F possibly damaging Het
Ptpa T A 2: 30,432,044 F100L probably damaging Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Rock1 T C 18: 10,112,357 E466G probably damaging Het
Sec16b A T 1: 157,554,757 M588L probably benign Het
Serpina1f T A 12: 103,693,690 H111L probably damaging Het
Sf3a1 T C 11: 4,166,537 I76T possibly damaging Het
Shcbp1 A T 8: 4,748,812 L369Q possibly damaging Het
Spef2 A G 15: 9,601,085 M1697T unknown Het
St7 G A 6: 17,844,912 C133Y probably damaging Het
Tex19.1 T A 11: 121,147,160 W115R possibly damaging Het
Tfrc T A 16: 32,630,221 I726N probably benign Het
Thbs1 A G 2: 118,119,617 probably null Het
Trim43a C T 9: 88,582,185 P50S probably benign Het
Trpm4 A T 7: 45,308,681 V935E probably damaging Het
Ttc12 A T 9: 49,470,320 V117D possibly damaging Het
Ulbp1 T C 10: 7,457,053 T82A probably damaging Het
Usp13 C T 3: 32,876,940 H288Y probably damaging Het
Vmn2r82 A G 10: 79,396,245 K693E possibly damaging Het
Vmn2r90 A G 17: 17,712,304 T158A probably damaging Het
Vps8 A G 16: 21,477,872 K540R possibly damaging Het
Zfp143 T A 7: 110,072,474 probably null Het
Zfp709 G T 8: 71,890,089 C454F probably damaging Het
Other mutations in Ccdc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Ccdc13 APN 9 121810084 splice site probably benign
IGL01306:Ccdc13 APN 9 121827363 missense probably benign 0.37
ANU23:Ccdc13 UTSW 9 121827363 missense probably benign 0.37
R0112:Ccdc13 UTSW 9 121813481 missense probably damaging 0.98
R0144:Ccdc13 UTSW 9 121827351 missense probably damaging 0.98
R0360:Ccdc13 UTSW 9 121798216 missense probably damaging 1.00
R0364:Ccdc13 UTSW 9 121798216 missense probably damaging 1.00
R1441:Ccdc13 UTSW 9 121813449 missense probably benign 0.44
R1674:Ccdc13 UTSW 9 121809142 missense probably damaging 1.00
R1691:Ccdc13 UTSW 9 121825068 splice site probably null
R1710:Ccdc13 UTSW 9 121819581 missense probably damaging 1.00
R3821:Ccdc13 UTSW 9 121831019 missense probably damaging 1.00
R3822:Ccdc13 UTSW 9 121831019 missense probably damaging 1.00
R3962:Ccdc13 UTSW 9 121798939 intron probably benign
R4695:Ccdc13 UTSW 9 121820760 missense probably damaging 1.00
R4758:Ccdc13 UTSW 9 121833734 missense possibly damaging 0.91
R5058:Ccdc13 UTSW 9 121817547 intron probably benign
R5283:Ccdc13 UTSW 9 121808188 missense probably damaging 1.00
R5436:Ccdc13 UTSW 9 121799043 missense probably benign 0.06
R5601:Ccdc13 UTSW 9 121800572 nonsense probably null
R5623:Ccdc13 UTSW 9 121833733 missense probably damaging 0.99
R5653:Ccdc13 UTSW 9 121798787 makesense probably null
R5665:Ccdc13 UTSW 9 121814290 missense probably damaging 0.99
R5975:Ccdc13 UTSW 9 121827235 missense probably benign 0.00
R6212:Ccdc13 UTSW 9 121798909 intron probably benign
R6213:Ccdc13 UTSW 9 121798909 intron probably benign
R6214:Ccdc13 UTSW 9 121798909 intron probably benign
R6215:Ccdc13 UTSW 9 121798909 intron probably benign
R6222:Ccdc13 UTSW 9 121798909 intron probably benign
R6223:Ccdc13 UTSW 9 121798909 intron probably benign
R6257:Ccdc13 UTSW 9 121798909 intron probably benign
R7053:Ccdc13 UTSW 9 121833838 missense probably damaging 0.97
R7664:Ccdc13 UTSW 9 121814213 missense probably benign 0.01
R7909:Ccdc13 UTSW 9 121833860 missense probably benign 0.01
RF006:Ccdc13 UTSW 9 121814207 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGAGGTCCTGAGTGCAAG -3'
(R):5'- AAGGTCCTACCATCCACCCTTG -3'

Sequencing Primer
(F):5'- TCCTGAGTGCAAGGGAGAG -3'
(R):5'- TGAGGGCCACTGTGCACAAG -3'
Posted On2020-10-28