Incidental Mutation 'IGL01577:Ccdc7a'
ID 91291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL01577
Quality Score
Status
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129715244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 280 (E280V)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect possibly damaging
Transcript: ENSMUST00000095158
AA Change: E280V

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: E280V

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125112
AA Change: E280V

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: E280V

DomainStartEndE-ValueType
Pfam:BioT2 1 166 4.3e-83 PFAM
SCOP:d1sig__ 191 333 9e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000214889
AA Change: E280V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,709,232 (GRCm39) T279A probably benign Het
Adamts9 T G 6: 92,835,128 (GRCm39) probably benign Het
Apba3 G A 10: 81,108,053 (GRCm39) G403D probably damaging Het
Atp13a4 C T 16: 29,260,102 (GRCm39) V235I possibly damaging Het
Brca2 T A 5: 150,465,085 (GRCm39) C1616* probably null Het
Cdc42bpb A G 12: 111,268,477 (GRCm39) I1241T possibly damaging Het
Cplx4 G T 18: 66,103,015 (GRCm39) A35E probably damaging Het
Cyp2j8 T G 4: 96,367,308 (GRCm39) D270A probably damaging Het
Cyp7a1 T C 4: 6,273,618 (GRCm39) D96G probably damaging Het
Ddx11 G A 17: 66,446,398 (GRCm39) R429H possibly damaging Het
Depdc5 C A 5: 33,113,241 (GRCm39) T419N possibly damaging Het
Diaph3 A C 14: 87,143,467 (GRCm39) I737R probably damaging Het
Elf2 C T 3: 51,163,773 (GRCm39) probably benign Het
Epha6 T A 16: 59,777,289 (GRCm39) I673L possibly damaging Het
Ephx1 A G 1: 180,829,545 (GRCm39) M1T probably null Het
Fndc3a A T 14: 72,827,298 (GRCm39) M84K probably damaging Het
Gad2 T C 2: 22,571,292 (GRCm39) probably benign Het
Gba2 G A 4: 43,573,753 (GRCm39) Q180* probably null Het
Gga2 A G 7: 121,589,006 (GRCm39) Y574H probably damaging Het
Gm7168 A T 17: 14,169,649 (GRCm39) R339W probably damaging Het
Hdac10 T C 15: 89,010,416 (GRCm39) E302G possibly damaging Het
Ighv1-72 A G 12: 115,721,893 (GRCm39) V21A possibly damaging Het
Kif15 A G 9: 122,825,399 (GRCm39) E774G probably benign Het
Lig3 A G 11: 82,674,303 (GRCm39) N43S probably benign Het
Nmnat1 T A 4: 149,554,135 (GRCm39) D135V possibly damaging Het
Or1s2 A G 19: 13,758,162 (GRCm39) Y62C probably damaging Het
Or52n2 A G 7: 104,542,730 (GRCm39) F35S probably benign Het
Pak6 A C 2: 118,524,129 (GRCm39) K428T probably benign Het
Pou2f3 G A 9: 43,058,178 (GRCm39) Q56* probably null Het
Prep T C 10: 44,948,144 (GRCm39) probably benign Het
Psd4 C T 2: 24,293,234 (GRCm39) P700S probably damaging Het
Rad18 A T 6: 112,642,302 (GRCm39) probably benign Het
Rbbp5 A G 1: 132,420,393 (GRCm39) K209E possibly damaging Het
Smurf1 G A 5: 144,829,998 (GRCm39) T335I probably damaging Het
Tbcd G A 11: 121,387,838 (GRCm39) R72Q probably damaging Het
Tsga10 T C 1: 37,874,538 (GRCm39) T116A possibly damaging Het
Unc80 A G 1: 66,569,127 (GRCm39) probably null Het
Vmn1r87 C A 7: 12,865,775 (GRCm39) V171F probably benign Het
Ythdc2 A T 18: 44,991,349 (GRCm39) M786L probably benign Het
Zmym6 C A 4: 126,999,223 (GRCm39) T469K probably damaging Het
Other mutations in Ccdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Ccdc7a APN 8 129,753,235 (GRCm39) splice site probably benign
IGL01019:Ccdc7a APN 8 129,788,099 (GRCm39) missense probably benign 0.05
IGL01553:Ccdc7a APN 8 129,753,072 (GRCm39) splice site probably benign
IGL03114:Ccdc7a APN 8 129,753,170 (GRCm39) missense possibly damaging 0.62
IGL03323:Ccdc7a APN 8 129,785,244 (GRCm39) missense probably benign 0.02
R1517:Ccdc7a UTSW 8 129,788,162 (GRCm39) missense probably damaging 0.99
R1804:Ccdc7a UTSW 8 129,715,247 (GRCm39) nonsense probably null
R1957:Ccdc7a UTSW 8 129,706,616 (GRCm39) missense probably damaging 0.99
R4926:Ccdc7a UTSW 8 129,706,535 (GRCm39) intron probably benign
R4981:Ccdc7a UTSW 8 129,711,464 (GRCm39) missense probably benign 0.35
R5193:Ccdc7a UTSW 8 129,715,278 (GRCm39) missense probably benign 0.02
R5273:Ccdc7a UTSW 8 129,788,090 (GRCm39) frame shift probably null
R5486:Ccdc7a UTSW 8 129,711,884 (GRCm39) missense probably damaging 0.98
R5505:Ccdc7a UTSW 8 129,706,655 (GRCm39) missense possibly damaging 0.73
R5562:Ccdc7a UTSW 8 129,785,266 (GRCm39) missense possibly damaging 0.79
R5704:Ccdc7a UTSW 8 129,706,577 (GRCm39) splice site probably benign
R6256:Ccdc7a UTSW 8 129,662,074 (GRCm39) splice site probably null
R6273:Ccdc7a UTSW 8 129,513,819 (GRCm39) missense probably damaging 0.97
R6366:Ccdc7a UTSW 8 129,582,473 (GRCm39) missense unknown
R6455:Ccdc7a UTSW 8 129,559,091 (GRCm39) missense probably damaging 0.97
R6778:Ccdc7a UTSW 8 129,547,601 (GRCm39) missense possibly damaging 0.66
R6882:Ccdc7a UTSW 8 129,523,809 (GRCm39) intron probably benign
R6891:Ccdc7a UTSW 8 129,753,119 (GRCm39) missense probably damaging 1.00
R6906:Ccdc7a UTSW 8 129,662,162 (GRCm39) missense unknown
R7028:Ccdc7a UTSW 8 129,608,075 (GRCm39) missense unknown
R7046:Ccdc7a UTSW 8 129,774,100 (GRCm39) missense probably damaging 0.99
R7073:Ccdc7a UTSW 8 129,618,866 (GRCm39) missense possibly damaging 0.46
R7268:Ccdc7a UTSW 8 129,607,633 (GRCm39) missense possibly damaging 0.66
R7454:Ccdc7a UTSW 8 129,670,997 (GRCm39) missense unknown
R7643:Ccdc7a UTSW 8 129,616,292 (GRCm39) missense probably damaging 1.00
R7733:Ccdc7a UTSW 8 129,719,533 (GRCm39) missense probably damaging 1.00
R7792:Ccdc7a UTSW 8 129,618,918 (GRCm39) missense possibly damaging 0.81
R7902:Ccdc7a UTSW 8 129,562,654 (GRCm39) missense possibly damaging 0.46
R7946:Ccdc7a UTSW 8 129,643,627 (GRCm39) missense probably damaging 0.97
R7983:Ccdc7a UTSW 8 129,607,559 (GRCm39) missense possibly damaging 0.66
R8032:Ccdc7a UTSW 8 129,551,864 (GRCm39) missense unknown
R8108:Ccdc7a UTSW 8 129,706,634 (GRCm39) missense unknown
R8345:Ccdc7a UTSW 8 129,525,245 (GRCm39) missense probably benign 0.01
R8372:Ccdc7a UTSW 8 129,547,585 (GRCm39) missense possibly damaging 0.82
R8379:Ccdc7a UTSW 8 129,691,417 (GRCm39) missense probably benign 0.03
R8472:Ccdc7a UTSW 8 129,754,138 (GRCm39) missense probably damaging 0.99
R8478:Ccdc7a UTSW 8 129,487,850 (GRCm39) missense possibly damaging 0.66
R8536:Ccdc7a UTSW 8 129,516,601 (GRCm39) missense possibly damaging 0.66
R8671:Ccdc7a UTSW 8 129,646,948 (GRCm39) missense probably damaging 0.99
R8696:Ccdc7a UTSW 8 129,715,244 (GRCm39) missense probably damaging 0.96
R8813:Ccdc7a UTSW 8 129,549,942 (GRCm39) missense possibly damaging 0.83
R8859:Ccdc7a UTSW 8 129,788,113 (GRCm39) missense probably benign 0.44
R9208:Ccdc7a UTSW 8 129,472,482 (GRCm39) missense possibly damaging 0.66
R9222:Ccdc7a UTSW 8 129,525,610 (GRCm39) missense unknown
R9262:Ccdc7a UTSW 8 129,486,277 (GRCm39) missense possibly damaging 0.66
R9299:Ccdc7a UTSW 8 129,616,319 (GRCm39) missense probably benign 0.27
R9337:Ccdc7a UTSW 8 129,616,319 (GRCm39) missense probably benign 0.27
R9357:Ccdc7a UTSW 8 129,671,136 (GRCm39) critical splice acceptor site probably null
R9516:Ccdc7a UTSW 8 129,555,774 (GRCm39) missense unknown
R9579:Ccdc7a UTSW 8 129,774,134 (GRCm39) nonsense probably null
R9672:Ccdc7a UTSW 8 129,671,016 (GRCm39) missense unknown
R9777:Ccdc7a UTSW 8 129,618,860 (GRCm39) missense possibly damaging 0.90
RF008:Ccdc7a UTSW 8 129,691,434 (GRCm39) missense probably damaging 0.99
Z1176:Ccdc7a UTSW 8 129,753,144 (GRCm39) missense probably benign 0.41
Z1177:Ccdc7a UTSW 8 129,534,405 (GRCm39) missense possibly damaging 0.66
Z1190:Ccdc7a UTSW 8 129,546,376 (GRCm39) missense possibly damaging 0.66
Posted On 2013-12-09