Incidental Mutation 'R7046:Ccdc7a'
ID 547324
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129774100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 145 (E145G)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000108747] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably damaging
Transcript: ENSMUST00000095158
AA Change: E145G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: E145G

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108747
AA Change: E145G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104379
Gene: ENSMUSG00000025808
AA Change: E145G

DomainStartEndE-ValueType
Pfam:BioT2 1 155 7.3e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125112
AA Change: E145G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: E145G

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: E145G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly 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
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
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGAAAGTCAATCATAACTGTGC -3'
(R):5'- CACCCAAGTTTGAAGCAGC -3'

Sequencing Primer
(F):5'- GAGGTCATATTTGAAAGTACTC -3'
(R):5'- AAGATTGGTGATGATGTGAG -3'
Posted On 2019-05-13