Incidental Mutation 'R4112:Ccdc7b'
ID 314465
Institutional Source Beutler Lab
Gene Symbol Ccdc7b
Ensembl Gene ENSMUSG00000056018
Gene Name coiled-coil domain containing 7B
Synonyms 1700008F21Rik
MMRRC Submission 040989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4112 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 129793615-129910213 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 129811708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108745] [ENSMUST00000140887] [ENSMUST00000148234]
AlphaFold E9Q9Y3
Predicted Effect probably benign
Transcript: ENSMUST00000026912
SMART Domains Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 93 1.7e-36 PFAM
coiled coil region 225 262 N/A INTRINSIC
low complexity region 276 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108745
SMART Domains Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
coiled coil region 22 59 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000140887
SMART Domains Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Predicted Effect silent
Transcript: ENSMUST00000148234
SMART Domains Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aamp A G 1: 74,320,386 (GRCm39) probably benign Het
Abcb4 A G 5: 8,986,783 (GRCm39) probably null Het
Adam6b T A 12: 113,453,256 (GRCm39) F24L possibly damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Angpt2 T A 8: 18,749,139 (GRCm39) Q326L probably damaging Het
Armc9 T A 1: 86,116,661 (GRCm39) I327N possibly damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
Ccdc162 T A 10: 41,532,324 (GRCm39) E450V possibly damaging Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Chia1 T C 3: 106,035,844 (GRCm39) L168P probably damaging Het
Cnot1 A C 8: 96,500,246 (GRCm39) L111V probably damaging Het
Col14a1 A T 15: 55,226,955 (GRCm39) N235I unknown Het
Col2a1 A C 15: 97,881,582 (GRCm39) L787R probably benign Het
Cyp3a25 A T 5: 145,939,841 (GRCm39) D55E probably benign Het
Dennd6a A T 14: 26,349,673 (GRCm39) probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Gemin4 T A 11: 76,103,645 (GRCm39) E372V probably damaging Het
Glyr1 T C 16: 4,836,350 (GRCm39) K500E possibly damaging Het
Gm10271 A T 10: 116,803,943 (GRCm39) probably benign Het
Gm20775 A T Y: 10,641,878 (GRCm39) noncoding transcript Het
Gm5578 A G 6: 112,583,466 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,167 (GRCm39) N234S probably damaging Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Klf17 A G 4: 117,617,898 (GRCm39) V153A possibly damaging Het
L3mbtl2 T C 15: 81,566,170 (GRCm39) V331A possibly damaging Het
Med1 A T 11: 98,070,913 (GRCm39) V110E probably damaging Het
Nsmaf A C 4: 6,417,188 (GRCm39) Y535* probably null Het
Pcdh10 G A 3: 45,336,055 (GRCm39) V790M probably damaging Het
Phlpp1 A G 1: 106,292,068 (GRCm39) T976A probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprk T A 10: 28,351,284 (GRCm39) probably null Het
Rbm5 A T 9: 107,642,796 (GRCm39) D79E probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rnd3 T A 2: 51,038,242 (GRCm39) T78S possibly damaging Het
Scart2 G T 7: 139,878,281 (GRCm39) G1003* probably null Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc10a2 C T 8: 5,155,135 (GRCm39) D17N probably benign Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sptb T A 12: 76,644,553 (GRCm39) T2098S probably damaging Het
Src T A 2: 157,304,946 (GRCm39) L165H probably damaging Het
Srr G T 11: 74,803,898 (GRCm39) Q20K probably benign Het
Stt3b A T 9: 115,095,206 (GRCm39) F275Y probably damaging Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tmem80 A G 7: 140,913,692 (GRCm39) probably benign Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Ttc24 T A 3: 87,981,946 (GRCm39) D40V probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp3 T A 11: 70,662,333 (GRCm39) S97R probably benign Het
Other mutations in Ccdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Ccdc7b APN 8 129,904,838 (GRCm39) missense possibly damaging 0.66
IGL01751:Ccdc7b APN 8 129,863,049 (GRCm39) splice site probably benign
IGL02529:Ccdc7b APN 8 129,904,706 (GRCm39) missense possibly damaging 0.92
IGL02596:Ccdc7b APN 8 129,798,959 (GRCm39) missense probably benign 0.00
R0107:Ccdc7b UTSW 8 129,904,678 (GRCm39) splice site probably benign
R0628:Ccdc7b UTSW 8 129,837,498 (GRCm39) intron probably benign
R0709:Ccdc7b UTSW 8 129,863,127 (GRCm39) missense probably benign 0.00
R1317:Ccdc7b UTSW 8 129,863,127 (GRCm39) missense probably benign 0.00
R1594:Ccdc7b UTSW 8 129,904,838 (GRCm39) missense possibly damaging 0.66
R2290:Ccdc7b UTSW 8 129,857,587 (GRCm39) splice site probably benign
R4585:Ccdc7b UTSW 8 129,837,401 (GRCm39) missense probably benign 0.06
R4586:Ccdc7b UTSW 8 129,837,401 (GRCm39) missense probably benign 0.06
R4747:Ccdc7b UTSW 8 129,904,716 (GRCm39) missense probably benign
R4978:Ccdc7b UTSW 8 129,836,688 (GRCm39) critical splice donor site probably null
R4988:Ccdc7b UTSW 8 129,872,013 (GRCm39) missense possibly damaging 0.53
R5470:Ccdc7b UTSW 8 129,799,081 (GRCm39) missense possibly damaging 0.95
R5732:Ccdc7b UTSW 8 129,799,195 (GRCm39) missense possibly damaging 0.71
R6590:Ccdc7b UTSW 8 129,904,700 (GRCm39) missense probably benign 0.00
R6599:Ccdc7b UTSW 8 129,893,462 (GRCm39) missense probably benign
R6690:Ccdc7b UTSW 8 129,904,700 (GRCm39) missense probably benign 0.00
R6881:Ccdc7b UTSW 8 129,799,028 (GRCm39) missense probably damaging 1.00
R7042:Ccdc7b UTSW 8 129,811,730 (GRCm39) missense probably benign 0.00
R7728:Ccdc7b UTSW 8 129,799,171 (GRCm39) missense unknown
R7891:Ccdc7b UTSW 8 129,799,146 (GRCm39) missense unknown
R8213:Ccdc7b UTSW 8 129,904,772 (GRCm39) missense probably benign 0.00
R8708:Ccdc7b UTSW 8 129,863,095 (GRCm39) missense probably benign 0.01
R8836:Ccdc7b UTSW 8 129,857,512 (GRCm39) splice site probably benign
R8847:Ccdc7b UTSW 8 129,872,082 (GRCm39) missense
R9272:Ccdc7b UTSW 8 129,893,459 (GRCm39) missense possibly damaging 0.46
R9287:Ccdc7b UTSW 8 129,890,321 (GRCm39) missense probably benign 0.27
R9478:Ccdc7b UTSW 8 129,837,473 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2015-05-14