Incidental Mutation 'IGL00795:Ccdc91'
ID12516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc91
Ensembl Gene ENSMUSG00000030301
Gene Namecoiled-coil domain containing 91
Synonyms1810060J02Rik, p56, 1700086G08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00795
Quality Score
Status
Chromosome6
Chromosomal Location147475828-147632612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 147507807 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 4 (D4Y)
Ref Sequence ENSEMBL: ENSMUSP00000122635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032441] [ENSMUST00000156106] [ENSMUST00000203659]
Predicted Effect unknown
Transcript: ENSMUST00000032441
AA Change: D4Y
SMART Domains Protein: ENSMUSP00000032441
Gene: ENSMUSG00000030301
AA Change: D4Y

DomainStartEndE-ValueType
coiled coil region 130 207 N/A INTRINSIC
coiled coil region 253 319 N/A INTRINSIC
low complexity region 349 365 N/A INTRINSIC
coiled coil region 376 407 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156106
AA Change: D4Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000203659
AA Change: D4Y
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Ap1m1 A G 8: 72,253,509 N308S probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Fam126b C T 1: 58,552,179 E102K probably damaging Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mapre1 A G 2: 153,746,314 D19G probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Pum3 T A 19: 27,422,358 Y225F probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in Ccdc91
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ccdc91 APN 6 147606954 missense unknown
IGL00497:Ccdc91 APN 6 147606987 missense unknown
R1495:Ccdc91 UTSW 6 147534172 missense possibly damaging 0.66
R1725:Ccdc91 UTSW 6 147592043 missense unknown
R3761:Ccdc91 UTSW 6 147562702 missense unknown
R4246:Ccdc91 UTSW 6 147592148 missense unknown
R4591:Ccdc91 UTSW 6 147590465 missense unknown
R4797:Ccdc91 UTSW 6 147592143 missense unknown
R5719:Ccdc91 UTSW 6 147575503 missense unknown
R5721:Ccdc91 UTSW 6 147575503 missense unknown
R6092:Ccdc91 UTSW 6 147535616 missense possibly damaging 0.66
R7156:Ccdc91 UTSW 6 147534178 missense possibly damaging 0.83
R7393:Ccdc91 UTSW 6 147534029 missense possibly damaging 0.92
R7411:Ccdc91 UTSW 6 147592198 nonsense probably null
R7576:Ccdc91 UTSW 6 147590459 missense unknown
R8165:Ccdc91 UTSW 6 147631588 missense unknown
R8311:Ccdc91 UTSW 6 147535616 missense possibly damaging 0.66
X0027:Ccdc91 UTSW 6 147590639 critical splice donor site probably null
Posted On2012-12-06