Incidental Mutation 'R8379:Ccdc7a'
ID 646867
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 067810-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8379 (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 A at 129691417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 402 (H402L)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably benign
Transcript: ENSMUST00000214889
AA Change: H402L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,920,126 (GRCm39) D314G probably benign Het
Ankrd12 T G 17: 66,290,939 (GRCm39) E1498A probably benign Het
Appl1 A T 14: 26,647,372 (GRCm39) probably null Het
Auh A G 13: 53,063,349 (GRCm39) *116R probably null Het
Ccr4 T C 9: 114,321,235 (GRCm39) T277A probably benign Het
Col18a1 C T 10: 76,889,072 (GRCm39) V1302I probably benign Het
Csnk1a1 T C 18: 61,688,925 (GRCm39) I35T probably benign Het
Csnk1e T C 15: 79,304,882 (GRCm39) R374G possibly damaging Het
Ddx11 A G 17: 66,437,020 (GRCm39) R105G probably benign Het
Denr C A 5: 124,065,124 (GRCm39) T159K possibly damaging Het
Dmp1 C A 5: 104,359,571 (GRCm39) Y82* probably null Het
Dok3 A G 13: 55,671,833 (GRCm39) V246A probably benign Het
Endov A C 11: 119,382,723 (GRCm39) K57Q possibly damaging Het
Fam83a A G 15: 57,873,196 (GRCm39) T342A probably benign Het
Fbln1 G A 15: 85,116,773 (GRCm39) C275Y probably damaging Het
Fhip1b T C 7: 105,034,342 (GRCm39) N430D possibly damaging Het
Foxi1 A G 11: 34,157,530 (GRCm39) I165T possibly damaging Het
Gm14496 A T 2: 181,642,275 (GRCm39) I649F probably damaging Het
Grin2b A G 6: 135,899,967 (GRCm39) S305P probably damaging Het
Grm1 G A 10: 10,564,879 (GRCm39) T1143M possibly damaging Het
Ifi202b C A 1: 173,802,298 (GRCm39) probably null Het
Klhl32 A T 4: 24,629,194 (GRCm39) D491E probably damaging Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Krt13 A G 11: 100,009,706 (GRCm39) L358P probably damaging Het
Limk2 G A 11: 3,321,162 (GRCm39) probably benign Het
Mdn1 A G 4: 32,756,453 (GRCm39) D4720G probably null Het
Mkln1 T A 6: 31,435,900 (GRCm39) Y286* probably null Het
Muc6 C A 7: 141,230,579 (GRCm39) E1143* probably null Het
Myh15 A G 16: 48,901,551 (GRCm39) I242M probably benign Het
Noc4l T G 5: 110,798,828 (GRCm39) K241Q probably damaging Het
Nup88 C A 11: 70,860,607 (GRCm39) L57F possibly damaging Het
Obsl1 G T 1: 75,480,501 (GRCm39) F374L possibly damaging Het
Or51aa2 A G 7: 103,188,183 (GRCm39) I86T possibly damaging Het
Orm1 A T 4: 63,264,355 (GRCm39) D137V probably damaging Het
Osbpl2 T A 2: 179,778,895 (GRCm39) D9E probably damaging Het
P4ha3 G T 7: 99,942,986 (GRCm39) D124Y probably damaging Het
Poteg T C 8: 27,943,354 (GRCm39) V208A probably benign Het
Ppfibp1 A G 6: 146,931,843 (GRCm39) D963G probably damaging Het
Prdx6 G T 1: 161,078,660 (GRCm39) D9E probably benign Het
Prrc2b C A 2: 32,104,666 (GRCm39) N1381K probably damaging Het
Ptpn14 T A 1: 189,565,598 (GRCm39) V222E possibly damaging Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rexo5 A T 7: 119,433,508 (GRCm39) M422L probably benign Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Robo2 A T 16: 73,730,588 (GRCm39) I1008N probably damaging Het
Sidt1 T A 16: 44,106,755 (GRCm39) Y225F probably benign Het
Slc6a15 A T 10: 103,225,048 (GRCm39) E45D probably benign Het
Spata31d1a T G 13: 59,850,668 (GRCm39) M487L probably benign Het
St6galnac1 C A 11: 116,666,325 (GRCm39) probably benign Het
Tcp11l2 A G 10: 84,449,469 (GRCm39) Y478C probably damaging Het
Tdrd12 G T 7: 35,223,482 (GRCm39) C67* probably null Het
Tead2 G A 7: 44,867,505 (GRCm39) G78D probably damaging Het
Tfpi2 A T 6: 3,963,849 (GRCm39) N194K probably damaging Het
Timd2 A G 11: 46,568,027 (GRCm39) probably null Het
Tmem270 T C 5: 134,930,557 (GRCm39) T235A probably benign Het
Tnrc18 T C 5: 142,774,157 (GRCm39) D224G Het
Tsga10 G T 1: 37,840,959 (GRCm39) Q416K probably benign Het
Ulk1 C A 5: 110,935,531 (GRCm39) L911F probably damaging Het
Usp8 T C 2: 126,584,491 (GRCm39) S567P probably benign Het
Vmn2r-ps158 C T 7: 42,697,270 (GRCm39) P776S probably damaging Het
Zdhhc3 A C 9: 122,918,143 (GRCm39) C129G probably 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
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
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'- CGAATTCACAGTGCTACAGGAAC -3'
(R):5'- GCAGATGGTTTAACCTAACTTCATC -3'

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