Incidental Mutation 'IGL02715:Ccdc127'
ID 304726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc127
Ensembl Gene ENSMUSG00000021578
Gene Name coiled-coil domain containing 127
Synonyms 5430420E17Rik, 0610011N22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02715
Quality Score
Status
Chromosome 13
Chromosomal Location 74498436-74513902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74504893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 147 (E147G)
Ref Sequence ENSEMBL: ENSMUSP00000124193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022063] [ENSMUST00000022064] [ENSMUST00000159931] [ENSMUST00000160021] [ENSMUST00000162376] [ENSMUST00000162672]
AlphaFold Q3TC33
Predicted Effect probably benign
Transcript: ENSMUST00000022063
AA Change: E147G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022063
Gene: ENSMUSG00000021578
AA Change: E147G

DomainStartEndE-ValueType
coiled coil region 78 140 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022064
SMART Domains Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579

DomainStartEndE-ValueType
SCOP:d1a4ya_ 208 417 8e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159931
AA Change: E147G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124009
Gene: ENSMUSG00000021578
AA Change: E147G

DomainStartEndE-ValueType
transmembrane domain 26 45 N/A INTRINSIC
coiled coil region 78 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160021
AA Change: E147G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124193
Gene: ENSMUSG00000021578
AA Change: E147G

DomainStartEndE-ValueType
transmembrane domain 26 45 N/A INTRINSIC
coiled coil region 78 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162376
AA Change: E147G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123805
Gene: ENSMUSG00000021578
AA Change: E147G

DomainStartEndE-ValueType
transmembrane domain 26 45 N/A INTRINSIC
coiled coil region 78 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223491
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,714 (GRCm39) I57V probably damaging Het
Abce1 T A 8: 80,416,990 (GRCm39) E340D probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Aig1 A G 10: 13,744,360 (GRCm39) probably null Het
Atpsckmt A G 15: 31,606,149 (GRCm39) T36A probably benign Het
Brd3 C A 2: 27,344,495 (GRCm39) A412S possibly damaging Het
C3 A G 17: 57,511,158 (GRCm39) probably benign Het
Chrna4 A G 2: 180,671,374 (GRCm39) probably benign Het
Cnn2 T C 10: 79,829,323 (GRCm39) L151P probably damaging Het
Col11a1 G T 3: 113,923,058 (GRCm39) M7I probably benign Het
Cstdc4 T C 16: 36,008,315 (GRCm39) I67T possibly damaging Het
Fastkd1 A G 2: 69,542,469 (GRCm39) probably null Het
Fcho2 A G 13: 98,932,843 (GRCm39) M53T probably damaging Het
Fmnl2 T C 2: 52,962,222 (GRCm39) Y236H possibly damaging Het
G6bos A G 17: 35,284,537 (GRCm39) probably null Het
Gramd1a C T 7: 30,835,279 (GRCm39) G436D probably damaging Het
Hivep2 A G 10: 14,007,131 (GRCm39) Y1243C probably benign Het
Lrit2 A G 14: 36,794,505 (GRCm39) D523G probably benign Het
Lrrc2 A C 9: 110,799,182 (GRCm39) D177A probably damaging Het
Lyst T A 13: 13,848,905 (GRCm39) probably null Het
Mrgpra6 A T 7: 46,838,396 (GRCm39) probably benign Het
Myh6 T C 14: 55,184,365 (GRCm39) probably benign Het
Myzap C A 9: 71,422,397 (GRCm39) E392* probably null Het
Ndst3 G A 3: 123,340,410 (GRCm39) probably benign Het
Nlrc5 C A 8: 95,201,296 (GRCm39) P130H probably damaging Het
Obscn T C 11: 58,971,137 (GRCm39) T2526A probably benign Het
Or1e26 T A 11: 73,479,947 (GRCm39) I206F probably benign Het
Pcnt C A 10: 76,204,556 (GRCm39) probably benign Het
Pfpl T A 19: 12,407,145 (GRCm39) C465* probably null Het
Pkd1l3 T A 8: 110,353,458 (GRCm39) C680S probably damaging Het
Ppp1r10 G T 17: 36,241,604 (GRCm39) G793V unknown Het
Prss27 A T 17: 24,263,953 (GRCm39) D213V possibly damaging Het
Sh2d5 T C 4: 137,984,018 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,549 (GRCm39) D193G probably benign Het
Sptan1 T C 2: 29,868,588 (GRCm39) V66A probably benign Het
Synpr T C 14: 13,608,618 (GRCm38) S133P probably damaging Het
Tagln3 T C 16: 45,544,588 (GRCm39) N28D probably benign Het
Tfrc A G 16: 32,443,189 (GRCm39) T494A probably benign Het
Tmem38a T C 8: 73,333,512 (GRCm39) I77T possibly damaging Het
Tmem42 C A 9: 122,851,295 (GRCm39) T86N probably damaging Het
Ttc8 T A 12: 98,910,179 (GRCm39) probably benign Het
Tub G A 7: 108,628,517 (GRCm39) V342I probably benign Het
Vmn2r103 A T 17: 20,014,218 (GRCm39) I337F probably damaging Het
Xkr7 A G 2: 152,896,277 (GRCm39) E377G probably damaging Het
Zfp292 C T 4: 34,819,542 (GRCm39) G260D probably damaging Het
Other mutations in Ccdc127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Ccdc127 APN 13 74,501,016 (GRCm39) missense probably damaging 1.00
R0295:Ccdc127 UTSW 13 74,504,989 (GRCm39) missense probably damaging 1.00
R1428:Ccdc127 UTSW 13 74,505,034 (GRCm39) missense probably benign 0.37
R1861:Ccdc127 UTSW 13 74,505,098 (GRCm39) missense possibly damaging 0.95
R4671:Ccdc127 UTSW 13 74,505,164 (GRCm39) nonsense probably null
R4738:Ccdc127 UTSW 13 74,505,187 (GRCm39) intron probably benign
R5719:Ccdc127 UTSW 13 74,505,187 (GRCm39) intron probably benign
R6210:Ccdc127 UTSW 13 74,505,040 (GRCm39) missense probably benign 0.00
R6742:Ccdc127 UTSW 13 74,501,042 (GRCm39) missense probably damaging 1.00
R6842:Ccdc127 UTSW 13 74,505,088 (GRCm39) missense probably damaging 1.00
R7046:Ccdc127 UTSW 13 74,500,994 (GRCm39) missense probably damaging 1.00
R7161:Ccdc127 UTSW 13 74,500,996 (GRCm39) missense probably damaging 1.00
R7912:Ccdc127 UTSW 13 74,505,151 (GRCm39) missense probably damaging 1.00
R8230:Ccdc127 UTSW 13 74,508,751 (GRCm39) missense unknown
Posted On 2015-04-16