Incidental Mutation 'ANU23:Ccdc13'
ID 262643
Institutional Source Beutler Lab
Gene Symbol Ccdc13
Ensembl Gene ENSMUSG00000079235
Gene Name coiled-coil domain containing 13
Synonyms 2900041A11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # ANU23
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 121626693-121668527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121656429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 128 (M128K)
Ref Sequence ENSEMBL: ENSMUSP00000114787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135986]
AlphaFold D3YV10
Predicted Effect probably benign
Transcript: ENSMUST00000135986
AA Change: M128K

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: M128K

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 noncoding transcript
Transcript: ENSMUST00000146716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152043
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.2%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Cacna1g G A 11: 94,357,054 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 G C 14: 55,749,459 (GRCm39) M6I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Gpatch3 CAGGAGGAGGAGGAGGAG CAGGAGGAGGAGGAG 4: 133,305,613 (GRCm39) probably benign Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Idh3a T A 9: 54,493,829 (GRCm39) probably null Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mcm7 C T 5: 138,168,653 (GRCm39) V13I probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn1r159 A G 7: 22,542,588 (GRCm39) V148A probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Zfp334 T C 2: 165,223,017 (GRCm39) H342R probably damaging Het
Other mutations in Ccdc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Ccdc13 APN 9 121,639,150 (GRCm39) splice site probably benign
IGL01306:Ccdc13 APN 9 121,656,429 (GRCm39) missense probably benign 0.37
R0112:Ccdc13 UTSW 9 121,642,547 (GRCm39) missense probably damaging 0.98
R0144:Ccdc13 UTSW 9 121,656,417 (GRCm39) missense probably damaging 0.98
R0360:Ccdc13 UTSW 9 121,627,282 (GRCm39) missense probably damaging 1.00
R0364:Ccdc13 UTSW 9 121,627,282 (GRCm39) missense probably damaging 1.00
R1441:Ccdc13 UTSW 9 121,642,515 (GRCm39) missense probably benign 0.44
R1674:Ccdc13 UTSW 9 121,638,208 (GRCm39) missense probably damaging 1.00
R1691:Ccdc13 UTSW 9 121,654,134 (GRCm39) splice site probably null
R1710:Ccdc13 UTSW 9 121,648,647 (GRCm39) missense probably damaging 1.00
R3821:Ccdc13 UTSW 9 121,660,085 (GRCm39) missense probably damaging 1.00
R3822:Ccdc13 UTSW 9 121,660,085 (GRCm39) missense probably damaging 1.00
R3962:Ccdc13 UTSW 9 121,628,005 (GRCm39) intron probably benign
R4695:Ccdc13 UTSW 9 121,649,826 (GRCm39) missense probably damaging 1.00
R4758:Ccdc13 UTSW 9 121,662,800 (GRCm39) missense possibly damaging 0.91
R5058:Ccdc13 UTSW 9 121,646,613 (GRCm39) intron probably benign
R5283:Ccdc13 UTSW 9 121,637,254 (GRCm39) missense probably damaging 1.00
R5436:Ccdc13 UTSW 9 121,628,109 (GRCm39) missense probably benign 0.06
R5601:Ccdc13 UTSW 9 121,629,638 (GRCm39) nonsense probably null
R5623:Ccdc13 UTSW 9 121,662,799 (GRCm39) missense probably damaging 0.99
R5653:Ccdc13 UTSW 9 121,627,853 (GRCm39) makesense probably null
R5665:Ccdc13 UTSW 9 121,643,356 (GRCm39) missense probably damaging 0.99
R5975:Ccdc13 UTSW 9 121,656,301 (GRCm39) missense probably benign 0.00
R6212:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6213:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6214:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6215:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6222:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6223:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R6257:Ccdc13 UTSW 9 121,627,975 (GRCm39) intron probably benign
R7053:Ccdc13 UTSW 9 121,662,904 (GRCm39) missense probably damaging 0.97
R7664:Ccdc13 UTSW 9 121,643,279 (GRCm39) missense probably benign 0.01
R7909:Ccdc13 UTSW 9 121,662,926 (GRCm39) missense probably benign 0.01
R7943:Ccdc13 UTSW 9 121,628,196 (GRCm39) missense unknown
R8464:Ccdc13 UTSW 9 121,649,824 (GRCm39) missense probably damaging 0.98
R8827:Ccdc13 UTSW 9 121,645,765 (GRCm39) missense probably benign 0.09
R9445:Ccdc13 UTSW 9 121,627,156 (GRCm39) missense probably benign 0.01
RF006:Ccdc13 UTSW 9 121,643,273 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAACTCCGTGTTCATCGCCC -3'
(R):5'- CTGCTCACTGAGGTTCATAGCTCAC -3'

Sequencing Primer
(F):5'- AAGACCTCCAAGTGTGGC -3'
(R):5'- gacttccaatccccctgcc -3'
Posted On 2015-02-04