Incidental Mutation 'R0144:Ccdc13'
ID 22512
Institutional Source Beutler Lab
Gene Symbol Ccdc13
Ensembl Gene ENSMUSG00000079235
Gene Name coiled-coil domain containing 13
Synonyms 2900041A11Rik
MMRRC Submission 038429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0144 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 121626693-121668527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121656417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000114787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135986]
AlphaFold D3YV10
Predicted Effect probably damaging
Transcript: ENSMUST00000135986
AA Change: L132P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: L132P

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.0%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,652,739 (GRCm39) probably null Het
Acp6 T A 3: 97,073,145 (GRCm39) probably benign Het
AI661453 A T 17: 47,780,224 (GRCm39) probably benign Het
Aox1 A G 1: 58,109,233 (GRCm39) I674V probably benign Het
Armc2 A T 10: 41,823,883 (GRCm39) probably benign Het
Atp8b1 G C 18: 64,704,445 (GRCm39) probably benign Het
Baz2b A T 2: 59,737,839 (GRCm39) N1823K probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Brca1 A T 11: 101,416,947 (GRCm39) S396T probably damaging Het
Btnl6 G T 17: 34,732,994 (GRCm39) R290S probably benign Het
Casp8ap2 A G 4: 32,643,797 (GRCm39) R957G possibly damaging Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Ceacam15 G T 7: 16,407,116 (GRCm39) H134N probably benign Het
Cep170 T C 1: 176,620,161 (GRCm39) I46V probably benign Het
Cfap57 T C 4: 118,441,902 (GRCm39) D722G probably damaging Het
Col11a1 A T 3: 113,907,243 (GRCm39) D628V unknown Het
Csmd1 A T 8: 16,441,838 (GRCm39) V342E probably benign Het
Dennd1a A G 2: 38,016,652 (GRCm39) V64A probably damaging Het
Dlec1 G T 9: 118,971,934 (GRCm39) G1345V probably benign Het
Dnah1 G A 14: 30,989,831 (GRCm39) probably benign Het
Dock5 C T 14: 68,023,735 (GRCm39) G1142D probably benign Het
Etv2 C A 7: 30,334,308 (GRCm39) A142S probably benign Het
Fam110c C A 12: 31,124,500 (GRCm39) T154K unknown Het
Fbxo17 C G 7: 28,434,765 (GRCm39) D183E probably damaging Het
Fbxo30 T A 10: 11,170,964 (GRCm39) W681R probably damaging Het
Fig4 A G 10: 41,134,045 (GRCm39) Y413H probably damaging Het
Gab1 A G 8: 81,511,830 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,510,411 (GRCm39) M1T probably null Het
H2-M10.6 G A 17: 37,123,133 (GRCm39) C22Y probably damaging Het
Igfn1 T C 1: 135,889,751 (GRCm39) D2432G probably damaging Het
Il13 T C 11: 53,524,003 (GRCm39) D60G possibly damaging Het
Iqgap1 A G 7: 80,401,668 (GRCm39) L479P probably damaging Het
Itpr2 T A 6: 146,228,653 (GRCm39) Q1314L probably damaging Het
Jrk C T 15: 74,578,005 (GRCm39) G427S probably benign Het
Kcnb1 T G 2: 166,946,467 (GRCm39) N794H probably damaging Het
Klhl8 A T 5: 104,015,804 (GRCm39) S361R probably benign Het
Krt87 T C 15: 101,336,542 (GRCm39) Y37C probably benign Het
Lbp A T 2: 158,161,630 (GRCm39) S231C probably damaging Het
Lpin2 A G 17: 71,532,071 (GRCm39) E142G probably damaging Het
Lrch4 G A 5: 137,636,805 (GRCm39) probably null Het
Lypd11 A G 7: 24,423,015 (GRCm39) V101A possibly damaging Het
Manea A G 4: 26,340,719 (GRCm39) M81T probably benign Het
Mcm3ap A G 10: 76,316,849 (GRCm39) T618A probably benign Het
Me3 A G 7: 89,389,080 (GRCm39) D128G probably damaging Het
Mix23 A T 16: 35,905,484 (GRCm39) N92I possibly damaging Het
Mug2 A G 6: 122,047,970 (GRCm39) probably benign Het
Myo9b A T 8: 71,798,687 (GRCm39) Q901L probably damaging Het
Nalcn T C 14: 123,608,948 (GRCm39) R640G probably damaging Het
Nalcn C T 14: 123,647,251 (GRCm39) probably benign Het
Ncor1 T C 11: 62,283,421 (GRCm39) N422S probably damaging Het
Nf1 T A 11: 79,437,953 (GRCm39) Y88N probably damaging Het
Nrxn3 G A 12: 89,315,162 (GRCm39) A358T probably damaging Het
Or52s1 A T 7: 102,861,747 (GRCm39) I216F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p62 T C 7: 107,771,178 (GRCm39) I258V probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pld5 T C 1: 175,798,107 (GRCm39) N431D probably benign Het
Prss28 G A 17: 25,528,424 (GRCm39) V16M probably damaging Het
Psmd2 T A 16: 20,480,975 (GRCm39) probably null Het
Ptpn21 A T 12: 98,654,868 (GRCm39) S700T probably benign Het
Rasa2 A T 9: 96,474,072 (GRCm39) V152D probably damaging Het
Reln G T 5: 22,153,447 (GRCm39) R2286S probably damaging Het
Rflnb G T 11: 75,915,789 (GRCm39) P102Q probably damaging Het
Rin2 G A 2: 145,718,559 (GRCm39) V680I probably damaging Het
Rnf213 A T 11: 119,370,426 (GRCm39) K4742* probably null Het
Rpp40 A T 13: 36,085,352 (GRCm39) S143T probably benign Het
Rps12 A G 10: 23,662,689 (GRCm39) I51T probably benign Het
Rsf1 T A 7: 97,285,614 (GRCm39) W109R probably damaging Het
Sipa1l2 C T 8: 126,176,615 (GRCm39) probably null Het
Tspan5 G T 3: 138,604,109 (GRCm39) V165L probably damaging Het
Uts2r T A 11: 121,052,291 (GRCm39) V385E probably benign Het
Vma21-ps T A 4: 52,497,231 (GRCm39) D5V possibly damaging Het
Vmn2r62 T A 7: 42,438,440 (GRCm39) N132I probably damaging Het
Zfp622 T C 15: 25,991,665 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,655,671 (GRCm39) K766R 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
ANU23:Ccdc13 UTSW 9 121,656,429 (GRCm39) missense probably benign 0.37
R0112:Ccdc13 UTSW 9 121,642,547 (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'- TGCCCTGCTCACTGAGGTTCATAG -3'

Sequencing Primer
(F):5'- AAGACCTCCAAGTGTGGC -3'
(R):5'- cttccaatccccctgcc -3'
Posted On 2013-04-16