Incidental Mutation 'R8345:Ccdc7a'
ID 645174
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 067801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129525245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1415 (M1415I)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000195093] [ENSMUST00000214889] [ENSMUST00000216104]
AlphaFold Q9D541
Predicted Effect probably benign
Transcript: ENSMUST00000195093
Predicted Effect probably benign
Transcript: ENSMUST00000214889
AA Change: M1415I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216104
AA Change: M50I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,284 (GRCm39) V260A probably benign Het
Adgrv1 T C 13: 81,251,505 (GRCm39) D6204G probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Aspm T G 1: 139,392,011 (GRCm39) Y787* probably null Het
Atp8b5 A C 4: 43,291,714 (GRCm39) D29A probably benign Het
Bdh2 A T 3: 135,001,013 (GRCm39) I128F probably damaging Het
Bmper T A 9: 23,136,126 (GRCm39) M69K probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cdc23 G A 18: 34,767,150 (GRCm39) T564I probably benign Het
Cemip T A 7: 83,591,373 (GRCm39) probably null Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Clec2m T A 6: 129,302,593 (GRCm39) N145Y probably damaging Het
Cpsf1 T A 15: 76,485,690 (GRCm39) T435S probably benign Het
Dennd5a T C 7: 109,504,477 (GRCm39) T879A possibly damaging Het
Diaph3 G A 14: 87,066,529 (GRCm39) Q955* probably null Het
Disp2 G A 2: 118,641,284 (GRCm39) V298M unknown Het
Dnah1 C A 14: 30,986,551 (GRCm39) D3671Y probably damaging Het
Dnmt3a T C 12: 3,885,234 (GRCm39) S13P unknown Het
Eci3 G A 13: 35,132,164 (GRCm39) T228I probably damaging Het
Ecm2 T C 13: 49,674,276 (GRCm39) L232P probably benign Het
Ednra G A 8: 78,415,813 (GRCm39) R145C probably damaging Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Fam8a1 T A 13: 46,827,054 (GRCm39) I275K probably damaging Het
Fat3 C A 9: 15,910,570 (GRCm39) V1811L probably benign Het
Fbn2 C T 18: 58,191,503 (GRCm39) C1540Y probably damaging Het
Fcgbpl1 G A 7: 27,854,785 (GRCm39) V1804M probably damaging Het
Ffar3 A G 7: 30,554,789 (GRCm39) L177P probably damaging Het
Fmnl1 A G 11: 103,077,440 (GRCm39) T267A possibly damaging Het
Fsip1 T C 2: 118,070,952 (GRCm39) E246G probably damaging Het
Gemin4 A G 11: 76,101,605 (GRCm39) L1052P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Grm5 A T 7: 87,723,746 (GRCm39) I679F probably damaging Het
Hapln1 A T 13: 89,732,902 (GRCm39) D21V probably benign Het
Jak2 T C 19: 29,262,270 (GRCm39) S364P probably damaging Het
Kansl3 A G 1: 36,387,897 (GRCm39) probably null Het
Kntc1 T C 5: 123,924,993 (GRCm39) L1102S probably benign Het
Mbd3l2 A G 9: 18,355,779 (GRCm39) I35V probably benign Het
Mdfic G T 6: 15,799,653 (GRCm39) C260F probably damaging Het
Mroh2b T C 15: 4,973,808 (GRCm39) S1109P probably benign Het
Myocd A T 11: 65,077,958 (GRCm39) C612* probably null Het
Or4b13 A T 2: 90,082,561 (GRCm39) M257K possibly damaging Het
Or4c102 A G 2: 88,422,435 (GRCm39) M96V probably benign Het
Or4f17-ps1 T A 2: 111,357,864 (GRCm39) C86* probably null Het
Or52h7 T A 7: 104,213,431 (GRCm39) M1K probably null Het
Or5w22 A T 2: 87,362,691 (GRCm39) T105S probably benign Het
Or8k21 A T 2: 86,145,451 (GRCm39) Y60N probably damaging Het
Pard3 C T 8: 128,050,549 (GRCm39) R204W probably damaging Het
Per1 T A 11: 68,998,382 (GRCm39) N1031K possibly damaging Het
Plekhh3 A G 11: 101,055,105 (GRCm39) S583P unknown Het
Pramel12 C T 4: 143,143,438 (GRCm39) T68I probably benign Het
Prex2 T A 1: 11,270,118 (GRCm39) C1268S possibly damaging Het
Prpf6 T C 2: 181,291,951 (GRCm39) I756T probably benign Het
Pum2 T C 12: 8,759,454 (GRCm39) V98A probably damaging Het
Rad50 A T 11: 53,574,968 (GRCm39) S652T probably benign Het
Rfng G T 11: 120,674,901 (GRCm39) P30T unknown Het
Rfx7 T C 9: 72,524,973 (GRCm39) I721T probably benign Het
Rpf1 G T 3: 146,213,431 (GRCm39) T240K probably benign Het
Ryr3 T C 2: 112,483,270 (GRCm39) N4189S probably benign Het
Samd15 G C 12: 87,248,212 (GRCm39) R299T probably benign Het
Scn3a A G 2: 65,329,335 (GRCm39) M765T possibly damaging Het
Scn9a G A 2: 66,324,966 (GRCm39) S1396L probably damaging Het
Sec24a C T 11: 51,634,605 (GRCm39) R107Q probably benign Het
Sema4b T A 7: 79,870,567 (GRCm39) V505E probably damaging Het
Siglec1 T A 2: 130,920,498 (GRCm39) T769S possibly damaging Het
Sit1 T C 4: 43,483,168 (GRCm39) E69G possibly damaging Het
Slc12a8 C A 16: 33,371,321 (GRCm39) D121E probably benign Het
Slc30a10 A T 1: 185,187,664 (GRCm39) Q135L probably benign Het
Suox A G 10: 128,507,200 (GRCm39) V276A probably benign Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tmed5 A G 5: 108,273,823 (GRCm39) W139R probably damaging Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Vmn1r65 A T 7: 6,011,256 (GRCm39) I326K probably benign Het
Vmn2r43 A G 7: 8,256,601 (GRCm39) S421P possibly damaging Het
Vmn2r57 A T 7: 41,076,968 (GRCm39) N399K possibly damaging Het
Vmn2r90 T A 17: 17,933,127 (GRCm39) L229* probably null Het
Vwf A T 6: 125,656,265 (GRCm39) D2610V Het
Zfp646 C T 7: 127,483,082 (GRCm39) S1753L probably benign Het
Zfy2 C A Y: 2,107,096 (GRCm39) V513F possibly damaging Het
Zranb2 A T 3: 157,251,731 (GRCm39) I317F unknown 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
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
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'- CCATGGAACGTATGCTATGCC -3'
(R):5'- TTTTCCAGTATCTTCAACAAGGGG -3'

Sequencing Primer
(F):5'- TGGAACGTATGCTATGCCTACAAC -3'
(R):5'- AGGGGGCCCTCTTCTTAGTC -3'
Posted On 2020-09-02