Incidental Mutation 'R8708:Ccdc7b'
ID 669376
Institutional Source Beutler Lab
Gene Symbol Ccdc7b
Ensembl Gene ENSMUSG00000056018
Gene Name coiled-coil domain containing 7B
Synonyms 1700008F21Rik
MMRRC Submission 068562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8708 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 129793615-129910213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 129863095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 9 (M9I)
Ref Sequence ENSEMBL: ENSMUSP00000104378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108743] [ENSMUST00000108745] [ENSMUST00000140887] [ENSMUST00000148234]
AlphaFold E9Q9Y3
Predicted Effect probably benign
Transcript: ENSMUST00000026912
AA Change: M212I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: M212I

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: ENSMUST00000108743
Predicted Effect probably benign
Transcript: ENSMUST00000108745
AA Change: M9I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018
AA Change: M9I

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

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

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (99/101)
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d T C 2: 131,403,400 (GRCm39) K230R probably damaging Het
Ajm1 C A 2: 25,467,814 (GRCm39) R699L possibly damaging Het
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Alg11 T C 8: 22,555,129 (GRCm39) F130S probably damaging Het
Ankfn1 A T 11: 89,394,756 (GRCm39) S276R possibly damaging Het
Ankhd1 T A 18: 36,727,344 (GRCm39) H486Q probably damaging Het
Ankrd23 T C 1: 36,573,169 (GRCm39) T68A probably benign Het
Arhgap23 A G 11: 97,343,238 (GRCm39) T507A probably benign Het
Arid1a A T 4: 133,409,145 (GRCm39) D1787E unknown Het
Atad2b T A 12: 5,011,253 (GRCm39) D504E probably damaging Het
Atg2b T A 12: 105,635,687 (GRCm39) probably benign Het
Bptf C A 11: 106,964,139 (GRCm39) S1685I probably damaging Het
Bptf T A 11: 106,964,140 (GRCm39) S1685C probably damaging Het
Cacna1c A T 6: 118,604,416 (GRCm39) I1437N Het
Capn1 T C 19: 6,061,328 (GRCm39) K197E probably damaging Het
Ccdc177 T C 12: 80,805,891 (GRCm39) T128A probably benign Het
Celf1 T A 2: 90,840,925 (GRCm39) probably null Het
Ckap5 T A 2: 91,425,823 (GRCm39) N1285K probably benign Het
Col24a1 C T 3: 145,251,020 (GRCm39) T1673I probably damaging Het
Dbp A G 7: 45,359,225 (GRCm39) E300G probably damaging Het
Dchs2 C A 3: 83,036,049 (GRCm39) H265Q probably benign Het
Dicer1 A T 12: 104,694,704 (GRCm39) S198T possibly damaging Het
Dnase1l2 A T 17: 24,661,266 (GRCm39) F86L probably benign Het
Dnhd1 T G 7: 105,343,487 (GRCm39) Y1610* probably null Het
Dock5 A G 14: 68,004,820 (GRCm39) V1529A probably benign Het
Egfr G T 11: 16,817,300 (GRCm39) probably benign Het
Exph5 T A 9: 53,287,096 (GRCm39) H1392Q probably benign Het
Fam78b A G 1: 166,906,332 (GRCm39) K164E possibly damaging Het
Fignl2 C A 15: 100,950,734 (GRCm39) R516L unknown Het
Fndc7 C T 3: 108,774,528 (GRCm39) E577K probably benign Het
Fryl T C 5: 73,289,905 (GRCm39) E107G probably benign Het
Gbp10 A T 5: 105,368,831 (GRCm39) M336K probably damaging Het
Gm11444 A T 11: 85,737,723 (GRCm39) C156S Het
Golga3 C A 5: 110,350,721 (GRCm39) A752E probably benign Het
Gper1 G T 5: 139,411,690 (GRCm39) V12L probably benign Het
Hmbox1 G T 14: 65,061,089 (GRCm39) A394E probably damaging Het
Ighv1-71 T A 12: 115,705,955 (GRCm39) I77L probably benign Het
Ing4 A T 6: 125,024,895 (GRCm39) N214Y probably damaging Het
Ints8 A G 4: 11,208,824 (GRCm39) probably null Het
Itpa T A 2: 130,517,639 (GRCm39) V129E probably damaging Het
Itpripl1 T A 2: 126,983,262 (GRCm39) M287L probably benign Het
Klc3 T C 7: 19,129,784 (GRCm39) I362V probably damaging Het
Ky T A 9: 102,402,590 (GRCm39) probably benign Het
Lasp1 A G 11: 97,697,709 (GRCm39) N43S possibly damaging Het
Limk2 A G 11: 3,300,763 (GRCm39) M380T probably benign Het
Lrp2 T A 2: 69,289,957 (GRCm39) E3627D probably damaging Het
Lrrc25 T C 8: 71,070,459 (GRCm39) L80P probably damaging Het
Mcoln3 A T 3: 145,846,276 (GRCm39) K529* probably null Het
Mdn1 A C 4: 32,725,854 (GRCm39) D2591A probably damaging Het
Med12l A G 3: 59,159,751 (GRCm39) I1267V probably benign Het
Mei4 C A 9: 81,809,595 (GRCm39) S226* probably null Het
Mios G A 6: 8,234,255 (GRCm39) V809M probably benign Het
Mmp17 G A 5: 129,672,486 (GRCm39) R146Q possibly damaging Het
Mob3a G A 10: 80,527,218 (GRCm39) Q36* probably null Het
Myo3a T A 2: 22,296,607 (GRCm39) probably benign Het
Naca A T 10: 127,883,943 (GRCm39) I2125F probably damaging Het
Ndst3 A C 3: 123,322,564 (GRCm39) S840A probably benign Het
Nlrp4c T C 7: 6,068,603 (GRCm39) M168T probably damaging Het
Nt5c3 A G 6: 56,874,758 (GRCm39) probably null Het
Or1af1 T A 2: 37,109,956 (GRCm39) S152T probably damaging Het
Or4a72 C A 2: 89,405,623 (GRCm39) G149V probably damaging Het
Or5b124 T C 19: 13,611,401 (GRCm39) S309P probably benign Het
Or6c5 T A 10: 129,074,678 (GRCm39) I220N possibly damaging Het
Pcgf3 A G 5: 108,634,063 (GRCm39) D107G probably benign Het
Pde2a A G 7: 101,159,588 (GRCm39) D816G probably damaging Het
Phf10 T A 17: 15,176,261 (GRCm39) T131S possibly damaging Het
Phf11 A T 14: 59,482,262 (GRCm39) C164S probably damaging Het
Phrf1 A G 7: 140,812,446 (GRCm39) D70G unknown Het
Piezo2 A G 18: 63,226,086 (GRCm39) L850S probably damaging Het
Plcg1 T A 2: 160,596,473 (GRCm39) probably benign Het
Plekhh2 A T 17: 84,882,421 (GRCm39) I676L probably benign Het
Ppp1r9a T G 6: 5,115,196 (GRCm39) V804G probably damaging Het
Ppt2 T C 17: 34,844,613 (GRCm39) H180R possibly damaging Het
Prdm15 T C 16: 97,618,066 (GRCm39) H398R unknown Het
Rab26 A T 17: 24,748,772 (GRCm39) M208K probably damaging Het
Rab31 A C 17: 65,974,859 (GRCm39) probably benign Het
Radil A G 5: 142,471,204 (GRCm39) V1024A probably damaging Het
Rorb A G 19: 18,960,780 (GRCm39) I65T probably damaging Het
Sall1 A T 8: 89,759,483 (GRCm39) V207E probably damaging Het
Sart3 A T 5: 113,882,728 (GRCm39) M864K possibly damaging Het
Sdcbp2 T A 2: 151,431,457 (GRCm39) S277T probably benign Het
Septin5 A G 16: 18,443,622 (GRCm39) V100A probably benign Het
Sipa1 C T 19: 5,710,980 (GRCm39) R10Q probably damaging Het
Ski A T 4: 155,245,119 (GRCm39) S376T probably damaging Het
Slc15a4 A T 5: 127,673,715 (GRCm39) D566E probably benign Het
Srgap2 G A 1: 131,273,544 (GRCm39) Q372* probably null Het
Stard9 A G 2: 120,534,059 (GRCm39) T3439A probably damaging Het
Tln1 T C 4: 43,534,769 (GRCm39) probably benign Het
Tmco3 A G 8: 13,345,998 (GRCm39) M279V probably benign Het
Tmem39b T C 4: 129,570,191 (GRCm39) probably benign Het
Trio T A 15: 27,732,632 (GRCm39) N3083I probably damaging Het
Ube3b G A 5: 114,531,151 (GRCm39) R215Q probably benign Het
Ubr1 T C 2: 120,696,964 (GRCm39) N1646S probably benign Het
Uqcrc1 T G 9: 108,776,108 (GRCm39) F270C probably damaging Het
Vmn2r108 T A 17: 20,682,687 (GRCm39) N839I probably damaging Het
Vmn2r75 A T 7: 85,812,476 (GRCm39) S514R probably damaging Het
Wdfy4 C G 14: 32,689,489 (GRCm39) V3016L Het
Wdr11 A G 7: 129,200,780 (GRCm39) N77S probably benign Het
Wdr17 C A 8: 55,093,127 (GRCm39) probably benign Het
Wrn T A 8: 33,782,671 (GRCm39) N753I probably damaging Het
Zan A G 5: 137,461,539 (GRCm39) probably null Het
Zfat T A 15: 67,956,278 (GRCm39) T1203S possibly damaging Het
Zfhx2 A C 14: 55,312,509 (GRCm39) S62A 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
R4112:Ccdc7b UTSW 8 129,811,708 (GRCm39) start gained 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
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 PCR Primer
(F):5'- TCTGAAATCCTGTGCTCATAGTT -3'
(R):5'- CCTTCTTTGAGGAAAAGGGGAT -3'

Sequencing Primer
(F):5'- CCTCTGGGTATGCCTTGTATCATAG -3'
(R):5'- AGAACTTTGATCAGGGCATAAAATG -3'
Posted On 2021-04-30