Incidental Mutation 'R7946:Ccdc7a'
ID 649361
Institutional Source Beutler Lab
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Name coiled-coil domain containing 7A
Synonyms 4930540C21Rik, 4930517G15Rik, Ccdc7
MMRRC Submission 045991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R7946 (G1)
Quality Score 220.009
Status Validated
Chromosome 8
Chromosomal Location 129460715-129791973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129643627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 734 (K734M)
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214889]
AlphaFold Q9D541
Predicted Effect probably damaging
Transcript: ENSMUST00000214889
AA Change: K734M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,398 (GRCm39) T1186A probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Afap1 A G 5: 36,092,995 (GRCm39) N33S probably benign Het
Afap1 G A 5: 36,141,396 (GRCm39) probably null Het
Ampd3 A G 7: 110,377,147 (GRCm39) D46G probably damaging Het
Anks4b A G 7: 119,781,707 (GRCm39) K246R probably benign Het
Aqp9 C T 9: 71,030,290 (GRCm39) V192M probably damaging Het
Aspscr1 T G 11: 120,599,443 (GRCm39) S132A Het
Atp2b4 C A 1: 133,658,320 (GRCm39) R530L probably damaging Het
Bahcc1 T C 11: 120,163,325 (GRCm39) V541A probably benign Het
Caprin1 A T 2: 103,603,093 (GRCm39) V490E probably damaging Het
Ccdc9b G T 2: 118,590,146 (GRCm39) P233T probably benign Het
Cdc16 A G 8: 13,812,882 (GRCm39) K138R probably benign Het
Cela2a A G 4: 141,549,617 (GRCm39) S53P possibly damaging Het
Clca3a2 A G 3: 144,513,075 (GRCm39) probably null Het
Cntrob T C 11: 69,206,047 (GRCm39) E373G possibly damaging Het
Csmd2 T C 4: 128,414,058 (GRCm39) Y2633H Het
Ctbp1 A T 5: 33,407,688 (GRCm39) M296K probably benign Het
Dido1 G T 2: 180,303,501 (GRCm39) Q1468K possibly damaging Het
Dnah7b T C 1: 46,272,739 (GRCm39) F2289S probably damaging Het
Fndc7 T A 3: 108,779,452 (GRCm39) D364V possibly damaging Het
Ggt7 G T 2: 155,347,892 (GRCm39) H180Q probably damaging Het
Gm14399 A T 2: 174,973,273 (GRCm39) C161S probably damaging Het
Gm17324 T C 9: 78,355,794 (GRCm39) T62A unknown Het
Gpr107 A G 2: 31,078,716 (GRCm39) I384V probably damaging Het
Igsf10 C A 3: 59,227,125 (GRCm39) V2183L possibly damaging Het
Il23r T A 6: 67,411,648 (GRCm39) H363L possibly damaging Het
Inka2 T A 3: 105,623,761 (GRCm39) L45H probably damaging Het
Iqsec1 A T 6: 90,667,252 (GRCm39) I291N probably damaging Het
Kcnc3 A T 7: 44,245,569 (GRCm39) T620S probably benign Het
Kif2b T C 11: 91,466,571 (GRCm39) N571D probably benign Het
Klrb1c T A 6: 128,766,072 (GRCm39) probably benign Het
Mgst2 A G 3: 51,584,991 (GRCm39) N55S probably damaging Het
Neb T C 2: 52,102,746 (GRCm39) D4509G probably damaging Het
Obox1 G T 7: 15,289,456 (GRCm39) V82F probably benign Het
Or4k51 A T 2: 111,585,163 (GRCm39) M190L probably benign Het
Or5p59 A G 7: 107,703,053 (GRCm39) D179G probably benign Het
Or7e174 T C 9: 20,012,780 (GRCm39) S242P probably damaging Het
Pakap A T 4: 57,710,045 (GRCm39) N330I probably damaging Het
Phf21a A T 2: 92,189,512 (GRCm39) E590D probably damaging Het
Rai14 T C 15: 10,574,287 (GRCm39) probably null Het
Rfx7 T C 9: 72,524,096 (GRCm39) Y429H probably damaging Het
Spata31d1d G T 13: 59,878,606 (GRCm39) A77E probably benign Het
Stra8 A G 6: 34,907,816 (GRCm39) probably null Het
Syne1 A G 10: 5,200,919 (GRCm39) S3550P possibly damaging Het
Tars2 A T 3: 95,657,693 (GRCm39) H249Q probably damaging Het
Tomm5 T C 4: 45,107,969 (GRCm39) E22G probably benign Het
Tor1a A G 2: 30,853,704 (GRCm39) probably null Het
Trim43b A G 9: 88,973,538 (GRCm39) I65T probably damaging Het
Ubr3 T C 2: 69,781,739 (GRCm39) M640T possibly damaging Het
Vegfa A T 17: 46,336,377 (GRCm39) Y248N probably damaging Het
Vmn1r172 T G 7: 23,358,857 (GRCm39) probably null Het
Vmn1r29 G T 6: 58,284,834 (GRCm39) V185F probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Wdfy4 T C 14: 32,792,705 (GRCm39) K2114E 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
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'- AGCTGATGCAAGAGAATTGGTC -3'
(R):5'- CAACTGGAAAACCCAATATTGACTG -3'

Sequencing Primer
(F):5'- GAGAATTGGTCTCCACTTTTCCC -3'
(R):5'- TACTTTTCTGTTTGATGCAC -3'
Posted On 2020-09-15