Incidental Mutation 'R0534:Ccdc110'
ID 49369
Institutional Source Beutler Lab
Gene Symbol Ccdc110
Ensembl Gene ENSMUSG00000071104
Gene Name coiled-coil domain containing 110
Synonyms LOC212392
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 46387656-46397182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46388175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000134510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095326] [ENSMUST00000174815]
AlphaFold Q3V125
Predicted Effect possibly damaging
Transcript: ENSMUST00000095326
AA Change: V44A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: V44A

DomainStartEndE-ValueType
coiled coil region 442 794 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174815
AA Change: V44A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.0891 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging Het
Other mutations in Ccdc110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Ccdc110 APN 8 46,395,161 (GRCm39) missense possibly damaging 0.76
IGL02175:Ccdc110 APN 8 46,393,660 (GRCm39) missense probably benign 0.07
IGL02471:Ccdc110 APN 8 46,394,793 (GRCm39) missense probably benign 0.14
IGL02524:Ccdc110 APN 8 46,394,979 (GRCm39) missense probably benign
IGL02887:Ccdc110 APN 8 46,396,221 (GRCm39) missense probably benign 0.01
IGL03227:Ccdc110 APN 8 46,394,586 (GRCm39) missense probably damaging 1.00
IGL03238:Ccdc110 APN 8 46,394,859 (GRCm39) missense probably benign 0.00
droll UTSW 8 46,395,864 (GRCm39) missense probably benign 0.10
humorless UTSW 8 46,396,487 (GRCm39) missense probably benign 0.03
R0049:Ccdc110 UTSW 8 46,395,663 (GRCm39) missense probably damaging 1.00
R0049:Ccdc110 UTSW 8 46,395,663 (GRCm39) missense probably damaging 1.00
R0110:Ccdc110 UTSW 8 46,388,194 (GRCm39) missense probably benign 0.00
R0189:Ccdc110 UTSW 8 46,388,119 (GRCm39) missense probably damaging 0.98
R0218:Ccdc110 UTSW 8 46,387,761 (GRCm39) splice site probably benign
R0280:Ccdc110 UTSW 8 46,396,487 (GRCm39) missense probably benign 0.03
R0332:Ccdc110 UTSW 8 46,396,001 (GRCm39) nonsense probably null
R0371:Ccdc110 UTSW 8 46,395,843 (GRCm39) missense possibly damaging 0.86
R0469:Ccdc110 UTSW 8 46,388,194 (GRCm39) missense probably benign 0.00
R0502:Ccdc110 UTSW 8 46,387,761 (GRCm39) splice site probably benign
R0510:Ccdc110 UTSW 8 46,388,194 (GRCm39) missense probably benign 0.00
R0647:Ccdc110 UTSW 8 46,396,425 (GRCm39) missense probably damaging 0.99
R0714:Ccdc110 UTSW 8 46,396,047 (GRCm39) missense possibly damaging 0.71
R0721:Ccdc110 UTSW 8 46,395,026 (GRCm39) missense probably benign
R1029:Ccdc110 UTSW 8 46,394,817 (GRCm39) missense probably damaging 0.98
R1147:Ccdc110 UTSW 8 46,397,121 (GRCm39) missense possibly damaging 0.64
R1147:Ccdc110 UTSW 8 46,397,121 (GRCm39) missense possibly damaging 0.64
R1170:Ccdc110 UTSW 8 46,394,922 (GRCm39) missense probably benign 0.22
R1340:Ccdc110 UTSW 8 46,395,218 (GRCm39) missense probably benign 0.02
R1540:Ccdc110 UTSW 8 46,395,362 (GRCm39) nonsense probably null
R1587:Ccdc110 UTSW 8 46,394,783 (GRCm39) missense probably benign 0.01
R1602:Ccdc110 UTSW 8 46,391,955 (GRCm39) missense probably benign 0.12
R1629:Ccdc110 UTSW 8 46,395,164 (GRCm39) missense probably benign 0.08
R1842:Ccdc110 UTSW 8 46,393,605 (GRCm39) missense probably damaging 1.00
R1933:Ccdc110 UTSW 8 46,396,287 (GRCm39) missense probably damaging 1.00
R1934:Ccdc110 UTSW 8 46,396,287 (GRCm39) missense probably damaging 1.00
R2006:Ccdc110 UTSW 8 46,396,349 (GRCm39) missense probably damaging 1.00
R2043:Ccdc110 UTSW 8 46,395,864 (GRCm39) missense probably benign 0.10
R2093:Ccdc110 UTSW 8 46,395,114 (GRCm39) missense probably damaging 1.00
R2165:Ccdc110 UTSW 8 46,395,876 (GRCm39) missense probably benign 0.00
R3613:Ccdc110 UTSW 8 46,395,843 (GRCm39) missense possibly damaging 0.86
R3923:Ccdc110 UTSW 8 46,395,426 (GRCm39) missense probably damaging 1.00
R4648:Ccdc110 UTSW 8 46,395,705 (GRCm39) missense possibly damaging 0.95
R4773:Ccdc110 UTSW 8 46,396,245 (GRCm39) missense probably damaging 1.00
R4901:Ccdc110 UTSW 8 46,396,437 (GRCm39) missense probably benign 0.35
R4911:Ccdc110 UTSW 8 46,395,944 (GRCm39) missense probably benign 0.00
R4923:Ccdc110 UTSW 8 46,396,460 (GRCm39) missense probably benign 0.29
R5104:Ccdc110 UTSW 8 46,395,729 (GRCm39) missense probably damaging 0.99
R5561:Ccdc110 UTSW 8 46,393,646 (GRCm39) missense probably benign 0.02
R5966:Ccdc110 UTSW 8 46,395,573 (GRCm39) missense probably damaging 1.00
R5976:Ccdc110 UTSW 8 46,396,536 (GRCm39) missense possibly damaging 0.71
R6141:Ccdc110 UTSW 8 46,394,807 (GRCm39) missense possibly damaging 0.89
R6326:Ccdc110 UTSW 8 46,395,078 (GRCm39) missense probably damaging 1.00
R6366:Ccdc110 UTSW 8 46,396,425 (GRCm39) missense probably damaging 0.99
R6405:Ccdc110 UTSW 8 46,394,734 (GRCm39) nonsense probably null
R6482:Ccdc110 UTSW 8 46,395,825 (GRCm39) missense probably benign 0.00
R6815:Ccdc110 UTSW 8 46,395,024 (GRCm39) missense probably benign 0.19
R7387:Ccdc110 UTSW 8 46,395,233 (GRCm39) missense probably benign 0.00
R7680:Ccdc110 UTSW 8 46,394,688 (GRCm39) missense possibly damaging 0.64
R8099:Ccdc110 UTSW 8 46,395,130 (GRCm39) missense probably damaging 1.00
R8114:Ccdc110 UTSW 8 46,396,140 (GRCm39) missense probably damaging 1.00
R8151:Ccdc110 UTSW 8 46,395,830 (GRCm39) missense probably damaging 1.00
R8295:Ccdc110 UTSW 8 46,396,416 (GRCm39) missense probably damaging 0.97
R8532:Ccdc110 UTSW 8 46,396,032 (GRCm39) missense probably damaging 1.00
R9072:Ccdc110 UTSW 8 46,395,875 (GRCm39) missense probably benign 0.00
R9073:Ccdc110 UTSW 8 46,395,875 (GRCm39) missense probably benign 0.00
R9088:Ccdc110 UTSW 8 46,394,882 (GRCm39) missense probably damaging 0.99
R9803:Ccdc110 UTSW 8 46,395,626 (GRCm39) missense probably benign
X0053:Ccdc110 UTSW 8 46,395,998 (GRCm39) missense possibly damaging 0.56
X0054:Ccdc110 UTSW 8 46,394,880 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATCCCCTGCTCAGTGAGAAAGC -3'
(R):5'- GTGAAAAGGAACCCAGTCCCATGTC -3'

Sequencing Primer
(F):5'- GCAGAGTTGACATCTCTACCTG -3'
(R):5'- CTCTTCAGGAAGTGAGATCCCAATG -3'
Posted On 2013-06-12