Incidental Mutation 'R5732:Ccdc7b'
ID501395
Institutional Source Beutler Lab
Gene Symbol Ccdc7b
Ensembl Gene ENSMUSG00000056018
Gene Namecoiled-coil domain containing 7B
Synonyms1700008F21Rik
MMRRC Submission 043347-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R5732 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location129067134-129183732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129072714 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 91 (M91V)
Ref Sequence ENSEMBL: ENSMUSP00000118197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108745] [ENSMUST00000140887] [ENSMUST00000148234]
Predicted Effect unknown
Transcript: ENSMUST00000026912
AA Change: M91V
SMART Domains Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: M91V

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 possibly damaging
Transcript: ENSMUST00000140887
AA Change: M91V

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018
AA Change: M91V

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148234
AA Change: M91V

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018
AA Change: M91V

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T A 9: 119,148,394 M407L possibly damaging Het
Acsf2 T C 11: 94,569,942 probably benign Het
Apob A G 12: 8,010,353 D2945G probably benign Het
Atg2a T C 19: 6,257,460 Y1475H probably damaging Het
Capn5 A G 7: 98,129,386 L342P possibly damaging Het
Ccdc152 A G 15: 3,292,378 probably null Het
Cd3g T C 9: 44,973,631 E105G possibly damaging Het
Cdadc1 A G 14: 59,596,911 L44P probably damaging Het
Cdh23 A G 10: 60,331,317 V1852A possibly damaging Het
Cdx2 T C 5: 147,302,023 Q252R possibly damaging Het
Cps1 A T 1: 67,157,764 I325F probably benign Het
Dctn1 G A 6: 83,197,949 probably null Het
Dcun1d3 T C 7: 119,858,033 K152R probably benign Het
Dhx35 G A 2: 158,831,785 V379M probably damaging Het
Fam171a2 T C 11: 102,439,981 E224G possibly damaging Het
Flt1 G T 5: 147,634,483 Y671* probably null Het
Fndc3b T C 3: 27,461,773 Y628C probably damaging Het
Foxj3 A T 4: 119,585,811 D144V probably damaging Het
Gp2 A G 7: 119,449,108 V429A probably damaging Het
Hydin T A 8: 110,452,058 I1095N probably benign Het
Kat2a A G 11: 100,708,240 F571S probably damaging Het
Kcnq1 C A 7: 143,148,756 probably benign Het
Letm2 A C 8: 25,587,325 S250A possibly damaging Het
Llgl1 T C 11: 60,709,460 V545A probably benign Het
Lrfn3 T C 7: 30,359,606 D398G probably benign Het
Lrig1 G T 6: 94,699,539 C49* probably null Het
Mug1 A G 6: 121,878,493 I929V probably benign Het
Naaa G A 5: 92,263,455 T291I probably damaging Het
Ndufaf1 G A 2: 119,660,040 Q180* probably null Het
Nr3c1 A T 18: 39,415,699 H741Q probably damaging Het
Nsun5 T C 5: 135,371,350 L109P probably damaging Het
Pacsin3 A G 2: 91,260,260 E18G probably damaging Het
Rpgr G A X: 10,166,272 P857L probably benign Het
Siglec1 G A 2: 131,074,268 T1254M probably benign Het
Slc35a4 A T 18: 36,682,341 T75S probably benign Het
Slc52a2 T C 15: 76,541,074 I434T probably benign Het
Slco2a1 C T 9: 103,050,256 T116I probably damaging Het
Snrpd2 T C 7: 19,152,613 probably null Het
Tbc1d32 T A 10: 56,088,393 L903F probably damaging Het
Tex10 G T 4: 48,460,046 T435K probably damaging Het
Tmem266 T C 9: 55,380,836 S66P probably damaging Het
Top2b A T 14: 16,400,106 E581D possibly damaging Het
Uggt1 A T 1: 36,161,771 probably null Het
Wdr47 T A 3: 108,633,156 Y622* probably null Het
Zfp644 A T 5: 106,637,123 H519Q probably damaging Het
Zfp687 T C 3: 95,011,217 M415V possibly damaging Het
Other mutations in Ccdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Ccdc7b APN 8 129178357 missense possibly damaging 0.66
IGL01751:Ccdc7b APN 8 129136568 splice site probably benign
IGL02529:Ccdc7b APN 8 129178225 missense possibly damaging 0.92
IGL02596:Ccdc7b APN 8 129072478 missense probably benign 0.00
R0107:Ccdc7b UTSW 8 129178197 splice site probably benign
R0628:Ccdc7b UTSW 8 129111017 intron probably benign
R0709:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1317:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1594:Ccdc7b UTSW 8 129178357 missense possibly damaging 0.66
R2290:Ccdc7b UTSW 8 129131106 splice site probably benign
R4112:Ccdc7b UTSW 8 129085227 start gained probably benign
R4585:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4586:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4747:Ccdc7b UTSW 8 129178235 missense probably benign
R4978:Ccdc7b UTSW 8 129110207 critical splice donor site probably null
R4988:Ccdc7b UTSW 8 129145532 missense possibly damaging 0.53
R5470:Ccdc7b UTSW 8 129072600 missense possibly damaging 0.95
R6590:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6599:Ccdc7b UTSW 8 129166981 missense probably benign
R6690:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6881:Ccdc7b UTSW 8 129072547 missense probably damaging 1.00
R7042:Ccdc7b UTSW 8 129085249 missense probably benign 0.00
R7728:Ccdc7b UTSW 8 129072690 missense unknown
R7891:Ccdc7b UTSW 8 129072665 missense unknown
R8213:Ccdc7b UTSW 8 129178291 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGCTTACTGAATTCATCACCTAAG -3'
(R):5'- GAGAGCAGTCTATAGGCTTCATC -3'

Sequencing Primer
(F):5'- TGAATTCATCACCTAAGCCAAAAG -3'
(R):5'- AGTCTATAGGCTTCATCCCATTTTC -3'
Posted On2017-12-01