Incidental Mutation 'R8108:Ccdc7a'
ID 630735
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 067537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8108 (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 129706634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 332 (T332A)
Ref Sequence ENSEMBL: ENSMUSP00000092780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect unknown
Transcript: ENSMUST00000095158
AA Change: T332A
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: T332A

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125112
AA Change: T332A
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: T332A

DomainStartEndE-ValueType
Pfam:BioT2 1 166 4.3e-83 PFAM
SCOP:d1sig__ 191 333 9e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000214889
AA Change: T332A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,397,239 (GRCm39) N164K probably benign Het
Acot1 T A 12: 84,064,135 (GRCm39) H414Q probably benign Het
Actrt2 A T 4: 154,751,493 (GRCm39) D214E probably benign Het
Afg2a T C 3: 37,485,931 (GRCm39) S218P probably benign Het
Chd9 C T 8: 91,659,852 (GRCm39) H271Y unknown Het
Depdc5 T G 5: 33,102,393 (GRCm39) D966E probably benign Het
Dolpp1 A G 2: 30,286,258 (GRCm39) Y119C probably benign Het
Dscam G C 16: 96,445,079 (GRCm39) D1537E probably benign Het
Dusp16 A G 6: 134,716,836 (GRCm39) I157T probably benign Het
Dyrk2 T C 10: 118,695,734 (GRCm39) D508G probably benign Het
Endov T C 11: 119,398,237 (GRCm39) V334A probably benign Het
Ep400 A T 5: 110,835,749 (GRCm39) V1956E unknown Het
Erich3 A T 3: 154,425,752 (GRCm39) Y83F possibly damaging Het
Fbrsl1 T C 5: 110,526,245 (GRCm39) probably null Het
Gm1110 T C 9: 26,831,957 (GRCm39) I65V probably damaging Het
Gm28374 A G 19: 6,132,230 (GRCm39) V19A Het
Gpr107 C A 2: 31,074,881 (GRCm39) H336Q probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Grm1 C A 10: 10,595,876 (GRCm39) R584L probably benign Het
Gse1 T C 8: 120,956,549 (GRCm39) S347P unknown Het
Ier3ip1 T A 18: 77,028,221 (GRCm39) I69K possibly damaging Het
Impact T G 18: 13,117,388 (GRCm39) L154V probably benign Het
Katnb1 T C 8: 95,820,573 (GRCm39) F141S possibly damaging Het
Kifap3 T A 1: 163,624,931 (GRCm39) N162K probably damaging Het
Klhl5 A G 5: 65,305,930 (GRCm39) probably null Het
Klre1 A G 6: 129,561,185 (GRCm39) D182G probably benign Het
Krt42 T A 11: 100,157,783 (GRCm39) Y227F probably benign Het
Lhcgr T A 17: 89,049,478 (GRCm39) K683* probably null Het
Lrrc37a G A 11: 103,393,883 (GRCm39) S514F probably benign Het
Lrrc9 G T 12: 72,500,833 (GRCm39) L186F probably damaging Het
Metrn A G 17: 26,014,004 (GRCm39) V274A probably benign Het
Mettl25 A T 10: 105,659,040 (GRCm39) F414L possibly damaging Het
Mixl1 A G 1: 180,524,267 (GRCm39) V104A probably damaging Het
Myo9b T A 8: 71,800,986 (GRCm39) M1047K probably damaging Het
Nbea G A 3: 55,726,736 (GRCm39) A2081V probably benign Het
Ndufs1 A T 1: 63,189,171 (GRCm39) D551E possibly damaging Het
Nectin3 T C 16: 46,284,484 (GRCm39) T67A possibly damaging Het
Nme8 C T 13: 19,835,130 (GRCm39) V519I probably benign Het
Npat G T 9: 53,482,429 (GRCm39) G1379V probably benign Het
Obscn T A 11: 58,952,460 (GRCm39) T3870S probably benign Het
Or1e20-ps1 T A 11: 73,324,680 (GRCm39) H124L unknown Het
Or4g7 T C 2: 111,309,579 (GRCm39) V150A possibly damaging Het
Or5g23 T C 2: 85,439,093 (GRCm39) R54G possibly damaging Het
Or5k14 T C 16: 58,692,599 (GRCm39) M305V probably benign Het
Or7h8 T A 9: 20,123,747 (GRCm39) M34K possibly damaging Het
Or8b46 A G 9: 38,450,706 (GRCm39) N172D probably damaging Het
Parp8 A T 13: 117,003,609 (GRCm39) Y769* probably null Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phldb1 T C 9: 44,622,458 (GRCm39) E65G probably damaging Het
Ppif C T 14: 25,698,750 (GRCm39) T157M probably damaging Het
Ppp3ca T A 3: 136,637,986 (GRCm39) probably null Het
Proser1 T A 3: 53,379,509 (GRCm39) probably null Het
Reg3d T A 6: 78,353,062 (GRCm39) K174* probably null Het
Rubcn A T 16: 32,677,320 (GRCm39) L55Q probably damaging Het
Sec14l3 T C 11: 4,016,198 (GRCm39) L39P probably damaging Het
Ska3 A G 14: 58,063,559 (GRCm39) I4T probably damaging Het
Slc30a10 A G 1: 185,196,351 (GRCm39) I338V possibly damaging Het
Slc35g1 C G 19: 38,391,277 (GRCm39) S186R probably damaging Het
Slc35g1 T A 19: 38,391,279 (GRCm39) L187H probably damaging Het
Tbc1d5 T C 17: 51,049,114 (GRCm39) I659V probably benign Het
Tbl3 G T 17: 24,919,890 (GRCm39) D751E probably benign Het
Tdrd3 T A 14: 87,723,702 (GRCm39) D311E possibly damaging Het
Tenm4 T C 7: 96,503,935 (GRCm39) F1335S probably benign Het
Tm2d1 A T 4: 98,263,260 (GRCm39) C83S probably damaging Het
Tnfrsf22 A T 7: 143,192,110 (GRCm39) V192D unknown Het
Trpm6 A G 19: 18,789,154 (GRCm39) T575A probably damaging Het
Uri1 T C 7: 37,681,098 (GRCm39) D102G possibly damaging Het
Vmn2r1 T A 3: 64,010,471 (GRCm39) C570S probably damaging Het
Vps13a C T 19: 16,618,151 (GRCm39) V2906I probably damaging Het
Zfp472 T C 17: 33,196,977 (GRCm39) Y351H possibly damaging Het
Zfp874a G T 13: 67,591,353 (GRCm39) Y110* probably null Het
Zfp986 T A 4: 145,625,875 (GRCm39) N178K 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
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
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'- AAACCCCTTACCTCTTGCAG -3'
(R):5'- GTGCAAGTACTCCCCACTTAAG -3'

Sequencing Primer
(F):5'- ACTCACCATTTCTAATCCTGTAACAG -3'
(R):5'- GTACTCCCCACTTAAGTACAAATAGG -3'
Posted On 2020-06-30