Incidental Mutation 'IGL03114:Ccdc7a'
ID 419313
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 # IGL03114
Quality Score
Status
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129753170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 187 (N187S)
Ref Sequence ENSEMBL: ENSMUSP00000092780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect possibly damaging
Transcript: ENSMUST00000095158
AA Change: N187S

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: N187S

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125112
AA Change: N187S

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: N187S

DomainStartEndE-ValueType
Pfam:BioT2 1 166 4.3e-83 PFAM
SCOP:d1sig__ 191 333 9e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214889
AA Change: N187S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,651,144 (GRCm39) I89F possibly damaging Het
Abca13 T A 11: 9,478,999 (GRCm39) H4282Q probably benign Het
Acta2 A G 19: 34,222,310 (GRCm39) probably null Het
Arl10 A G 13: 54,723,579 (GRCm39) probably benign Het
Avpr1a A G 10: 122,285,623 (GRCm39) Y305C probably damaging Het
Bmpr2 T A 1: 59,906,603 (GRCm39) N565K probably damaging Het
Boc A T 16: 44,307,115 (GRCm39) S1035R probably benign Het
Brd10 A T 19: 29,694,532 (GRCm39) S1654T probably benign Het
Cntn5 C T 9: 9,748,457 (GRCm39) E680K probably damaging Het
Copa T A 1: 171,946,835 (GRCm39) Y1014* probably null Het
Csmd3 A G 15: 47,683,847 (GRCm39) S1662P probably damaging Het
Cyp2e1 T C 7: 140,353,042 (GRCm39) F360L possibly damaging Het
Efnb3 A T 11: 69,447,628 (GRCm39) probably benign Het
Egf A T 3: 129,530,529 (GRCm39) L211Q probably damaging Het
Eno1 G A 4: 150,325,583 (GRCm39) R56H probably benign Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Git2 G A 5: 114,871,918 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,245,752 (GRCm39) probably null Het
Hyal4 A T 6: 24,755,964 (GRCm39) I61L probably benign Het
Kat14 T C 2: 144,217,885 (GRCm39) probably null Het
Kif13b T C 14: 65,025,897 (GRCm39) V1418A probably benign Het
Lcn12 T C 2: 25,383,274 (GRCm39) K35E probably benign Het
Lyrm7 G T 11: 54,741,198 (GRCm39) N45K possibly damaging Het
Mical2 G T 7: 111,996,764 (GRCm39) G559V probably damaging Het
Mtrr A T 13: 68,712,441 (GRCm39) C648* probably null Het
Muc5b C A 7: 141,412,556 (GRCm39) S1834* probably null Het
Mup16 G A 4: 61,436,250 (GRCm39) T101M probably benign Het
Myof A T 19: 37,892,309 (GRCm39) L1148Q probably damaging Het
Nags A T 11: 102,039,814 (GRCm39) I501F probably damaging Het
Nbeal1 A T 1: 60,317,886 (GRCm39) Y672F probably damaging Het
Ncapg2 A G 12: 116,415,993 (GRCm39) probably benign Het
Obscn A G 11: 58,891,365 (GRCm39) S7056P unknown Het
Or52s1 T C 7: 102,861,928 (GRCm39) I287T probably damaging Het
Pde2a C A 7: 101,157,890 (GRCm39) probably benign Het
Piezo2 T C 18: 63,163,343 (GRCm39) probably null Het
Pkhd1 C A 1: 20,268,395 (GRCm39) D3328Y probably damaging Het
Plxdc2 T C 2: 16,654,935 (GRCm39) V178A probably damaging Het
Prdx3 T C 19: 60,861,556 (GRCm39) probably benign Het
Prkce T A 17: 86,961,983 (GRCm39) D694E probably damaging Het
Prss1l T A 6: 41,374,012 (GRCm39) C205S probably damaging Het
Ptdss1 T A 13: 67,142,058 (GRCm39) Y405* probably null Het
Rad54l A T 4: 115,955,729 (GRCm39) W608R probably damaging Het
Rassf6 G T 5: 90,756,649 (GRCm39) probably benign Het
Sema5a A T 15: 32,673,573 (GRCm39) I804F probably damaging Het
Slc15a2 A T 16: 36,572,267 (GRCm39) I668N probably damaging Het
Thsd7b A G 1: 130,116,288 (GRCm39) E1347G probably benign Het
Tmco3 T C 8: 13,348,205 (GRCm39) probably benign Het
Ttn T C 2: 76,551,996 (GRCm39) M31214V probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Ugt2b5 T C 5: 87,276,209 (GRCm39) Y355C probably damaging Het
Usp48 C A 4: 137,383,436 (GRCm39) T1031K probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn1r202 T A 13: 22,685,500 (GRCm39) probably benign Het
Vmn2r90 T C 17: 17,953,771 (GRCm39) I645T probably damaging Het
Vps18 T C 2: 119,124,132 (GRCm39) V353A possibly damaging Het
Vwf C T 6: 125,576,326 (GRCm39) Q469* probably null 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
IGL01577:Ccdc7a APN 8 129,715,244 (GRCm39) missense probably damaging 0.96
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 2016-08-02