Incidental Mutation 'R9299:Ccdc7a'
ID 704800
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R9299 (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 129616319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 928 (Q928R)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably benign
Transcript: ENSMUST00000214889
AA Change: Q928R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G T 9: 57,163,792 (GRCm39) R861S possibly damaging Het
Abca12 T A 1: 71,359,042 (GRCm39) N588I possibly damaging Het
Adamts9 A G 6: 92,773,976 (GRCm39) Y1727H probably benign Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Alad C T 4: 62,429,760 (GRCm39) probably null Het
Anapc15-ps C A 10: 95,509,077 (GRCm39) D68Y probably damaging Het
Arhgap45 T C 10: 79,862,565 (GRCm39) S645P possibly damaging Het
Atp9a A T 2: 168,554,666 (GRCm39) M1K probably null Het
B020004C17Rik A T 14: 57,254,230 (GRCm39) I118F probably damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Cdc42bpa C A 1: 179,972,073 (GRCm39) L1292I probably damaging Het
Clec2e A C 6: 129,072,092 (GRCm39) F96V probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Cyp4a10 A G 4: 115,376,947 (GRCm39) M104V probably benign Het
Cyth1 C T 11: 118,059,837 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Dpcd C A 19: 45,566,009 (GRCm39) Q203K probably damaging Het
Dph1 T A 11: 75,070,622 (GRCm39) Q339L possibly damaging Het
Dpy19l3 G T 7: 35,424,752 (GRCm39) S187* probably null Het
Eva1a G T 6: 82,069,047 (GRCm39) A125S probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Frem2 T C 3: 53,563,980 (GRCm39) T176A probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm12888 G A 4: 121,182,044 (GRCm39) S16F unknown Het
Hsf5 T A 11: 87,526,770 (GRCm39) C481S probably benign Het
Ifi211 T A 1: 173,735,288 (GRCm39) Q47L probably damaging Het
Il17re A T 6: 113,440,971 (GRCm39) M202L probably benign Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Ksr2 G A 5: 117,885,399 (GRCm39) probably null Het
Lrtm1 C T 14: 28,743,714 (GRCm39) P61S probably damaging Het
Ltk A T 2: 119,584,721 (GRCm39) S487R possibly damaging Het
Mis18bp1 A T 12: 65,185,538 (GRCm39) D876E possibly damaging Het
Nalf1 T C 8: 9,820,156 (GRCm39) Y288C probably damaging Het
Or8b39 A G 9: 37,996,785 (GRCm39) T218A probably benign Het
Paqr7 A G 4: 134,234,311 (GRCm39) N56S probably benign Het
Pcdhb22 G T 18: 37,651,885 (GRCm39) E118* probably null Het
Pcdhb4 G A 18: 37,442,264 (GRCm39) A525T probably benign Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Pla2g4e T A 2: 120,002,204 (GRCm39) D617V probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Poteg A G 8: 27,940,287 (GRCm39) Y156C probably benign Het
Rev3l T C 10: 39,723,999 (GRCm39) S2644P probably damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Slc6a21 T C 7: 44,937,130 (GRCm39) V252A Het
Slx9 C A 10: 77,351,535 (GRCm39) A14S possibly damaging Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
St6galnac6 G T 2: 32,502,345 (GRCm39) R78L probably benign Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Tep1 T C 14: 51,081,988 (GRCm39) probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Thsd7a A G 6: 12,504,131 (GRCm39) F341S Het
Tmem82 A T 4: 141,343,861 (GRCm39) C136* probably null Het
Tmprss11a A T 5: 86,570,361 (GRCm39) C199* probably null Het
Zbtb48 T C 4: 152,105,147 (GRCm39) N505S possibly damaging Het
Zfp385b A T 2: 77,246,115 (GRCm39) V304E 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
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
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'- ACTTCCTTGGTATTCATGGACC -3'
(R):5'- TAGCACATCTTATCTAGCATCACAGTC -3'

Sequencing Primer
(F):5'- CCTTGGTATTCATGGACCATAATC -3'
(R):5'- CTGGATGCTTCATAAATCTGT -3'
Posted On 2022-03-25