Incidental Mutation 'R6891:Ccdc7a'
ID 537220
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 044985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R6891 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 129753119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 204 (R204L)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably damaging
Transcript: ENSMUST00000095158
AA Change: R204L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: R204L

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125112
AA Change: R204L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: R204L

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: R204L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 C T 9: 107,806,346 (GRCm39) A223V probably benign Het
Agbl5 G T 5: 31,052,522 (GRCm39) R61L probably damaging Het
Agmat A T 4: 141,483,192 (GRCm39) T209S probably benign Het
Ankrd34a G A 3: 96,505,335 (GRCm39) V180I probably benign Het
Anks1 C T 17: 28,276,398 (GRCm39) T1047M probably damaging Het
Arhgap21 T A 2: 20,855,142 (GRCm39) I1407F probably damaging Het
Armc1 C A 3: 19,189,205 (GRCm39) C183F probably damaging Het
Atg13 A G 2: 91,516,136 (GRCm39) M196T probably benign Het
AU040320 G T 4: 126,740,231 (GRCm39) S864I possibly damaging Het
Btn2a2 T C 13: 23,667,014 (GRCm39) D197G probably benign Het
Carmil1 A G 13: 24,325,706 (GRCm39) I208T probably benign Het
Cbs T A 17: 31,841,431 (GRCm39) R263S probably damaging Het
Cdhr1 A T 14: 36,819,334 (GRCm39) probably null Het
Cers4 G A 8: 4,573,731 (GRCm39) R378Q probably damaging Het
Chst1 T G 2: 92,444,088 (GRCm39) L187V probably benign Het
Clec4e A T 6: 123,260,565 (GRCm39) N164K probably damaging Het
Cln3 T A 7: 126,181,975 (GRCm39) D29V possibly damaging Het
Crybg2 A G 4: 133,809,148 (GRCm39) S187G probably benign Het
Ddx1 A T 12: 13,286,096 (GRCm39) N285K probably benign Het
Dmxl2 A G 9: 54,387,664 (GRCm39) I58T probably damaging Het
Dock4 A G 12: 40,829,135 (GRCm39) Y1007C probably damaging Het
Eral1 C T 11: 77,966,559 (GRCm39) V234I possibly damaging Het
Fads2b C A 2: 85,319,149 (GRCm39) M384I possibly damaging Het
Fads2b T G 2: 85,319,157 (GRCm39) T382P probably damaging Het
Fam161b A G 12: 84,401,554 (GRCm39) F400S probably damaging Het
Fmnl3 T C 15: 99,223,754 (GRCm39) D314G probably damaging Het
Foxred2 A T 15: 77,839,909 (GRCm39) L127Q probably damaging Het
Gjd2 G A 2: 113,843,575 (GRCm39) A14V possibly damaging Het
Gon4l A G 3: 88,766,173 (GRCm39) probably null Het
Gpr151 T A 18: 42,711,985 (GRCm39) D231V probably benign Het
Gzf1 A T 2: 148,526,689 (GRCm39) K387* probably null Het
Hfm1 T A 5: 107,065,240 (GRCm39) K146N possibly damaging Het
Hgf G A 5: 16,809,920 (GRCm39) probably null Het
Isoc2b A G 7: 4,854,487 (GRCm39) S15P probably damaging Het
Itga5 A G 15: 103,265,970 (GRCm39) S126P probably damaging Het
Kat6b A G 14: 21,719,104 (GRCm39) D1152G probably benign Het
Kcna4 C T 2: 107,126,652 (GRCm39) S462F probably damaging Het
Kif24 A T 4: 41,394,168 (GRCm39) C902S probably benign Het
Lama2 A T 10: 27,204,068 (GRCm39) C523* probably null Het
Lama2 G C 10: 27,204,078 (GRCm39) S520* probably null Het
Ltf T C 9: 110,854,181 (GRCm39) V332A probably benign Het
Mapkap1 T C 2: 34,453,153 (GRCm39) F349L probably damaging Het
Mdm1 A G 10: 117,983,937 (GRCm39) N188D probably benign Het
Mfn1 T C 3: 32,631,252 (GRCm39) S730P possibly damaging Het
Mrgprd T A 7: 144,876,087 (GRCm39) D319E probably benign Het
Mrps9 C A 1: 42,944,573 (GRCm39) L364I probably damaging Het
Myo1h C T 5: 114,487,673 (GRCm39) R626C probably damaging Het
Nme3 T C 17: 25,115,829 (GRCm39) S61P probably benign Het
Or2g1 A G 17: 38,106,395 (GRCm39) Q20R probably benign Het
Or52e18 A G 7: 104,609,192 (GRCm39) I249T probably damaging Het
Pald1 A G 10: 61,184,311 (GRCm39) probably null Het
Papola A T 12: 105,775,950 (GRCm39) probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Plch1 T C 3: 63,605,504 (GRCm39) T1458A probably benign Het
Polr3e A G 7: 120,543,873 (GRCm39) Q659R probably damaging Het
Pramel38 C A 5: 94,365,978 (GRCm39) P32Q probably damaging Het
Shoc2 T C 19: 53,976,548 (GRCm39) V146A probably benign Het
Slc15a1 T C 14: 121,713,442 (GRCm39) T362A probably benign Het
Smpd3 A G 8: 106,991,300 (GRCm39) Y418H probably damaging Het
Sorcs1 A T 19: 50,213,557 (GRCm39) C723* probably null Het
Supt7l T A 5: 31,680,365 (GRCm39) N16Y probably damaging Het
Syngr2 T C 11: 117,703,499 (GRCm39) V105A probably damaging Het
Thrb T A 14: 17,981,899 (GRCm38) V8E probably benign Het
Tlx1 A T 19: 45,139,757 (GRCm39) I135F probably damaging Het
Tnfaip3 A G 10: 18,887,417 (GRCm39) I36T probably damaging Het
Troap A G 15: 98,980,569 (GRCm39) Y583C possibly damaging Het
Usp17lb T C 7: 104,490,307 (GRCm39) K207E probably benign Het
Vmn2r10 C T 5: 109,149,845 (GRCm39) V400M probably damaging Het
Wdr49 A T 3: 75,240,590 (GRCm39) probably null Het
Wdr64 G T 1: 175,533,634 (GRCm39) W90L probably damaging Het
Yme1l1 A G 2: 23,085,401 (GRCm39) E662G probably damaging Het
Zfp334 C T 2: 165,224,644 (GRCm39) V68I 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTCTATGCCCCAGAATAGG -3'
(R):5'- CAAGGAAGCTTCAGGGATTTTCAG -3'

Sequencing Primer
(F):5'- TGCCAGGACCAGGAATGG -3'
(R):5'- AGCTTCAGGGATTTTCAGAATTAAG -3'
Posted On 2018-10-18