Incidental Mutation 'IGL03323:Ccdc7a'
ID 416542
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 # IGL03323
Quality Score
Status
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129785244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
Ref Sequence ENSEMBL: ENSMUSP00000117961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000108747] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably benign
Transcript: ENSMUST00000095158
AA Change: D105E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: D105E

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108747
AA Change: D105E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104379
Gene: ENSMUSG00000025808
AA Change: D105E

DomainStartEndE-ValueType
Pfam:BioT2 1 155 7.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125112
AA Change: D105E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: D105E

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: D105E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,292,730 (GRCm39) D418V probably damaging Het
Ahdc1 G A 4: 132,792,739 (GRCm39) G1327S probably benign Het
Bcl2l15 A T 3: 103,740,719 (GRCm39) I62L probably benign Het
Cldn12 C A 5: 5,558,421 (GRCm39) G2V probably damaging Het
Eapp G T 12: 54,720,400 (GRCm39) H272N probably damaging Het
Fcrla A G 1: 170,755,114 (GRCm39) probably benign Het
Fmnl3 C T 15: 99,219,162 (GRCm39) G787S probably damaging Het
Fmo5 G T 3: 97,546,323 (GRCm39) probably null Het
Golgb1 G T 16: 36,733,815 (GRCm39) E1021* probably null Het
Hspa4 A T 11: 53,155,960 (GRCm39) N648K probably benign Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Lad1 T A 1: 135,758,712 (GRCm39) probably null Het
Man2b2 T C 5: 36,975,858 (GRCm39) D399G probably benign Het
Mc5r C T 18: 68,472,286 (GRCm39) T215I probably benign Het
Mx2 A G 16: 97,347,575 (GRCm39) S156G probably damaging Het
Necap2 A T 4: 140,795,533 (GRCm39) I242N possibly damaging Het
Nme8 C T 13: 19,873,120 (GRCm39) E175K probably benign Het
Notch4 T A 17: 34,801,445 (GRCm39) C1098S probably damaging Het
Or1j16 T A 2: 36,530,153 (GRCm39) M34K possibly damaging Het
Or7a42 T C 10: 78,791,434 (GRCm39) Y132H probably benign Het
Osbpl9 A G 4: 108,919,656 (GRCm39) probably benign Het
Prag1 T C 8: 36,607,162 (GRCm39) S968P probably damaging Het
Qsox2 A G 2: 26,110,991 (GRCm39) S125P probably benign Het
Rptn A G 3: 93,304,460 (GRCm39) T598A probably benign Het
Slc2a2 G A 3: 28,780,439 (GRCm39) M375I probably damaging Het
Tmed9 C T 13: 55,744,691 (GRCm39) T173I probably damaging Het
Trank1 A G 9: 111,181,184 (GRCm39) D402G probably damaging Het
Ttc21a G T 9: 119,769,602 (GRCm39) probably benign Het
Vmn2r58 T C 7: 41,511,295 (GRCm39) M503V probably benign 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
IGL03114:Ccdc7a APN 8 129,753,170 (GRCm39) missense possibly damaging 0.62
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