Incidental Mutation 'IGL00264:Ccdc71'
ID6137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc71
Ensembl Gene ENSMUSG00000049305
Gene Namecoiled-coil domain containing 71
Synonyms2600016J21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL00264
Quality Score
Status
Chromosome9
Chromosomal Location108460527-108465938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108463038 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 17 (S17T)
Ref Sequence ENSEMBL: ENSMUSP00000142230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061209] [ENSMUST00000193170] [ENSMUST00000193269] [ENSMUST00000193286] [ENSMUST00000193895]
Predicted Effect probably damaging
Transcript: ENSMUST00000061209
AA Change: S17T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: S17T

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 4.7e-168 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192210
Predicted Effect probably damaging
Transcript: ENSMUST00000193170
AA Change: S17T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: S17T

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 3.1e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193269
AA Change: S17T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305
AA Change: S17T

DomainStartEndE-ValueType
Pfam:CCDC71L 8 93 5.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193286
SMART Domains Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193618
Predicted Effect probably benign
Transcript: ENSMUST00000193895
SMART Domains Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195869
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in Ccdc71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ccdc71 APN 9 108464155 missense probably damaging 1.00
R0158:Ccdc71 UTSW 9 108464137 missense probably benign 0.01
R1328:Ccdc71 UTSW 9 108462949 unclassified probably benign
R1415:Ccdc71 UTSW 9 108463208 nonsense probably null
R4721:Ccdc71 UTSW 9 108463423 missense possibly damaging 0.61
R5144:Ccdc71 UTSW 9 108463852 missense probably benign
R6379:Ccdc71 UTSW 9 108463612 missense possibly damaging 0.82
R7406:Ccdc71 UTSW 9 108463324 nonsense probably null
Posted On2012-04-20