Incidental Mutation 'R5186:Ccdc14'
ID 397915
Institutional Source Beutler Lab
Gene Symbol Ccdc14
Ensembl Gene ENSMUSG00000022833
Gene Name coiled-coil domain containing 14
Synonyms
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 34690616-34725202 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34721585 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 511 (F511L)
Ref Sequence ENSEMBL: ENSMUSP00000156124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023532] [ENSMUST00000231609]
AlphaFold Q8K2J4
Predicted Effect probably damaging
Transcript: ENSMUST00000023532
AA Change: F559L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: F559L

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:CCDC14 96 934 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231364
Predicted Effect probably damaging
Transcript: ENSMUST00000231609
AA Change: F511L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A T 13: 59,743,739 (GRCm38) L89H probably damaging Het
Abca8a T C 11: 110,091,599 (GRCm38) I6V probably null Het
Aox1 A G 1: 58,068,370 (GRCm38) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,698,803 (GRCm38) probably benign Het
Cacna1g T G 11: 94,442,848 (GRCm38) N931T probably damaging Het
Cd177 T A 7: 24,744,923 (GRCm38) E710V probably benign Het
Cep112 T C 11: 108,752,560 (GRCm38) C49R probably benign Het
Clip2 G A 5: 134,522,791 (GRCm38) T159M possibly damaging Het
Dnah2 T C 11: 69,435,884 (GRCm38) N3575S probably damaging Het
Dnah6 T A 6: 73,067,427 (GRCm38) I3234F probably damaging Het
Eci3 G T 13: 34,946,978 (GRCm38) A302E possibly damaging Het
Fam204a T C 19: 60,199,989 (GRCm38) K214E probably damaging Het
Fam78a T C 2: 32,082,654 (GRCm38) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,956,055 (GRCm38) D132V probably damaging Het
Frs2 C A 10: 117,078,842 (GRCm38) W57C probably damaging Het
Gm26558 G T 2: 70,661,417 (GRCm38) probably benign Het
Gpr139 A G 7: 119,144,840 (GRCm38) V174A probably benign Het
Grik5 T C 7: 25,015,819 (GRCm38) T676A probably damaging Het
H60c T C 10: 3,259,273 (GRCm38) probably null Het
Hspa1l A G 17: 34,978,469 (GRCm38) K495E probably damaging Het
Irgm1 C T 11: 48,866,217 (GRCm38) V256I probably benign Het
Kat7 T A 11: 95,286,416 (GRCm38) T293S probably benign Het
Lipg C T 18: 74,960,938 (GRCm38) V13I probably benign Het
Lrrn1 A T 6: 107,569,224 (GRCm38) Y661F probably damaging Het
Mllt3 A G 4: 87,840,995 (GRCm38) V272A probably benign Het
Mx1 G A 16: 97,455,494 (GRCm38) R162C probably benign Het
Myo18b T A 5: 112,871,470 (GRCm38) D647V probably damaging Het
Naf1 G A 8: 66,879,646 (GRCm38) V329I probably benign Het
Olfr1286 A T 2: 111,420,774 (GRCm38) M59K probably damaging Het
Olfr654 A T 7: 104,588,211 (GRCm38) I153F probably damaging Het
Olfr936 A T 9: 39,046,969 (GRCm38) C194* probably null Het
P2rx5 G A 11: 73,171,790 (GRCm38) V442M possibly damaging Het
Pcdhb9 A G 18: 37,401,232 (GRCm38) E93G probably damaging Het
Pcdhga4 A T 18: 37,687,426 (GRCm38) N676I probably benign Het
Pgm5 A G 19: 24,820,128 (GRCm38) M230T probably damaging Het
Pik3c2g T C 6: 139,622,018 (GRCm38) V44A probably damaging Het
Pp2d1 T C 17: 53,508,140 (GRCm38) M519V probably benign Het
Ppp1r10 A G 17: 35,928,511 (GRCm38) E404G probably damaging Het
Prpf8 A T 11: 75,489,783 (GRCm38) E104V possibly damaging Het
Ptpa T C 2: 30,438,355 (GRCm38) probably null Het
Pygl A C 12: 70,201,344 (GRCm38) N248K probably damaging Het
Rbm8a A G 3: 96,630,932 (GRCm38) D102G probably damaging Het
Sema3d A G 5: 12,584,908 (GRCm38) D647G probably benign Het
Serpinb11 A T 1: 107,379,754 (GRCm38) D305V probably damaging Het
Slc12a8 T C 16: 33,617,208 (GRCm38) I337T probably damaging Het
Slc29a2 G A 19: 5,028,967 (GRCm38) R286Q probably benign Het
Slc2a3 T A 6: 122,735,583 (GRCm38) D234V probably damaging Het
Slco4a1 T C 2: 180,473,108 (GRCm38) V608A probably damaging Het
Srrm2 C T 17: 23,816,587 (GRCm38) T831I probably benign Het
St18 T A 1: 6,802,317 (GRCm38) probably null Het
Tesk2 G C 4: 116,741,896 (GRCm38) G67A probably damaging Het
Tlr1 A T 5: 64,925,221 (GRCm38) L671H probably damaging Het
Tmem63b A T 17: 45,661,477 (GRCm38) Y735N possibly damaging Het
Tmprss11a C T 5: 86,420,079 (GRCm38) C263Y probably damaging Het
Trio A T 15: 27,897,991 (GRCm38) V345E probably damaging Het
Ubr5 A G 15: 37,997,916 (GRCm38) S1674P probably damaging Het
Uchl3 T A 14: 101,695,917 (GRCm38) C209S probably damaging Het
Uhmk1 T C 1: 170,211,167 (GRCm38) N206S probably damaging Het
Uhrf1 C T 17: 56,318,340 (GRCm38) R588W probably damaging Het
Usp28 T C 9: 49,010,250 (GRCm38) V256A probably damaging Het
Utrn C A 10: 12,728,777 (GRCm38) L552F probably damaging Het
Vmn1r55 A T 7: 5,146,986 (GRCm38) M146K probably damaging Het
Vmn1r57 A C 7: 5,221,108 (GRCm38) I211L probably benign Het
Zar1 C T 5: 72,577,399 (GRCm38) C316Y probably damaging Het
Zc3h11a A T 1: 133,621,674 (GRCm38) S750T probably damaging Het
Zcchc6 A G 13: 59,816,656 (GRCm38) probably null Het
Zfp366 G A 13: 99,246,168 (GRCm38) C613Y probably benign Het
Zfp37 A T 4: 62,191,256 (GRCm38) C524S probably damaging Het
Zfp516 T C 18: 82,957,093 (GRCm38) V472A probably benign Het
Zhx1 A T 15: 58,052,423 (GRCm38) M809K probably damaging Het
Zic1 T C 9: 91,364,371 (GRCm38) Y216C probably damaging Het
Other mutations in Ccdc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Ccdc14 APN 16 34,723,213 (GRCm38) missense probably damaging 1.00
IGL02338:Ccdc14 APN 16 34,721,803 (GRCm38) missense probably benign 0.00
IGL02494:Ccdc14 APN 16 34,723,414 (GRCm38) missense probably damaging 1.00
IGL02648:Ccdc14 APN 16 34,697,158 (GRCm38) missense probably damaging 1.00
R0632:Ccdc14 UTSW 16 34,721,649 (GRCm38) missense possibly damaging 0.86
R1199:Ccdc14 UTSW 16 34,723,828 (GRCm38) missense probably damaging 1.00
R1469:Ccdc14 UTSW 16 34,706,782 (GRCm38) missense probably damaging 0.99
R1469:Ccdc14 UTSW 16 34,706,782 (GRCm38) missense probably damaging 0.99
R2012:Ccdc14 UTSW 16 34,690,722 (GRCm38) missense possibly damaging 0.83
R2087:Ccdc14 UTSW 16 34,695,645 (GRCm38) critical splice donor site probably null
R2337:Ccdc14 UTSW 16 34,705,018 (GRCm38) missense probably benign 0.04
R2504:Ccdc14 UTSW 16 34,721,850 (GRCm38) nonsense probably null
R3155:Ccdc14 UTSW 16 34,723,852 (GRCm38) missense probably damaging 1.00
R4618:Ccdc14 UTSW 16 34,706,495 (GRCm38) missense probably benign 0.08
R4645:Ccdc14 UTSW 16 34,721,740 (GRCm38) missense probably damaging 1.00
R4835:Ccdc14 UTSW 16 34,705,038 (GRCm38) missense probably damaging 1.00
R5214:Ccdc14 UTSW 16 34,704,855 (GRCm38) missense probably benign 0.24
R5319:Ccdc14 UTSW 16 34,723,172 (GRCm38) missense probably damaging 0.99
R5921:Ccdc14 UTSW 16 34,706,391 (GRCm38) missense probably damaging 0.99
R5945:Ccdc14 UTSW 16 34,723,588 (GRCm38) missense probably damaging 1.00
R6141:Ccdc14 UTSW 16 34,706,562 (GRCm38) missense probably damaging 1.00
R6662:Ccdc14 UTSW 16 34,690,794 (GRCm38) missense probably damaging 1.00
R6925:Ccdc14 UTSW 16 34,690,749 (GRCm38) missense probably benign 0.29
R6958:Ccdc14 UTSW 16 34,690,806 (GRCm38) missense probably damaging 1.00
R6970:Ccdc14 UTSW 16 34,709,533 (GRCm38) missense probably damaging 1.00
R7365:Ccdc14 UTSW 16 34,723,619 (GRCm38) nonsense probably null
R7845:Ccdc14 UTSW 16 34,715,364 (GRCm38) missense probably damaging 1.00
R7889:Ccdc14 UTSW 16 34,723,836 (GRCm38) missense probably damaging 1.00
R7903:Ccdc14 UTSW 16 34,704,910 (GRCm38) missense probably damaging 0.99
R8093:Ccdc14 UTSW 16 34,709,652 (GRCm38) missense probably damaging 1.00
R8207:Ccdc14 UTSW 16 34,705,043 (GRCm38) missense possibly damaging 0.62
R8368:Ccdc14 UTSW 16 34,723,372 (GRCm38) missense probably benign 0.00
R9060:Ccdc14 UTSW 16 34,697,116 (GRCm38) missense probably benign 0.41
R9128:Ccdc14 UTSW 16 34,706,789 (GRCm38) missense probably damaging 1.00
R9163:Ccdc14 UTSW 16 34,690,748 (GRCm38) missense possibly damaging 0.93
R9294:Ccdc14 UTSW 16 34,697,358 (GRCm38) missense probably damaging 0.99
R9318:Ccdc14 UTSW 16 34,704,918 (GRCm38) missense possibly damaging 0.90
R9659:Ccdc14 UTSW 16 34,721,543 (GRCm38) missense probably damaging 1.00
R9781:Ccdc14 UTSW 16 34,723,614 (GRCm38) missense possibly damaging 0.94
Z1088:Ccdc14 UTSW 16 34,690,804 (GRCm38) start codon destroyed probably null 0.98
Z1176:Ccdc14 UTSW 16 34,706,498 (GRCm38) missense probably damaging 1.00
Z1177:Ccdc14 UTSW 16 34,723,670 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTAGGGAATCAGTGAACTCAGGG -3'
(R):5'- TCATTGGCCAAGGCTTCCTC -3'

Sequencing Primer
(F):5'- GGAATCAGTGAACTCAGGGTATTTTC -3'
(R):5'- GGCTTCCTCCAACTCTAAAGC -3'
Posted On 2016-07-06