Incidental Mutation 'IGL02966:Poc1b'
ID365583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poc1b
Ensembl Gene ENSMUSG00000019952
Gene NamePOC1 centriolar protein B
Synonyms4933430F16Rik, Wdr51b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02966
Quality Score
Status
Chromosome10
Chromosomal Location99107036-99198074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99144314 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 136 (C136S)
Ref Sequence ENSEMBL: ENSMUSP00000125423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]
Predicted Effect probably damaging
Transcript: ENSMUST00000020113
AA Change: C178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: C178S

DomainStartEndE-ValueType
WD40 7 46 1.71e-7 SMART
WD40 49 88 8.68e-9 SMART
WD40 91 130 2.71e-10 SMART
WD40 133 172 2.43e-12 SMART
WD40 175 214 2.07e-6 SMART
WD40 217 256 1.71e-7 SMART
WD40 259 298 7.55e-9 SMART
coiled coil region 428 468 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159043
SMART Domains Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952

DomainStartEndE-ValueType
WD40 2 38 5.95e-7 SMART
Blast:WD40 41 75 9e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000159228
AA Change: C178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: C178S

DomainStartEndE-ValueType
WD40 7 46 1.71e-7 SMART
WD40 49 88 8.68e-9 SMART
WD40 91 130 2.71e-10 SMART
WD40 133 172 2.43e-12 SMART
WD40 175 214 2.07e-6 SMART
WD40 217 256 1.71e-7 SMART
WD40 259 298 7.55e-9 SMART
coiled coil region 401 441 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159990
AA Change: C136S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: C136S

DomainStartEndE-ValueType
WD40 7 46 8.68e-9 SMART
WD40 49 88 2.71e-10 SMART
WD40 91 130 2.43e-12 SMART
WD40 133 172 2.07e-6 SMART
WD40 175 214 1.71e-7 SMART
WD40 217 256 7.55e-9 SMART
coiled coil region 386 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219884
AA Change: C178S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 G147E probably damaging Het
Adam18 A T 8: 24,611,149 probably benign Het
Ahcyl2 G A 6: 29,880,557 V175I probably benign Het
Alox12 T A 11: 70,250,085 T375S probably damaging Het
Batf2 C A 19: 6,171,789 Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 S76P probably damaging Het
Bphl A T 13: 34,063,997 H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 E82D probably damaging Het
Calu A T 6: 29,356,585 K39* probably null Het
Capns1 T C 7: 30,192,193 D142G probably damaging Het
Ccr8 T C 9: 120,094,140 V107A probably damaging Het
Cep170b G A 12: 112,736,444 G447D possibly damaging Het
Chat C T 14: 32,448,946 V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 V918L probably damaging Het
Cyp27a1 A G 1: 74,732,090 T145A probably benign Het
Dgkq T A 5: 108,656,421 probably null Het
Dnhd1 A G 7: 105,720,741 I4458V probably benign Het
Enpp1 T A 10: 24,660,274 E409D probably damaging Het
Fam78b G T 1: 167,078,888 L205F probably damaging Het
Foxr2 C A X: 153,130,681 R183S probably damaging Het
Ganc T C 2: 120,433,648 S361P probably damaging Het
Gfra4 C A 2: 131,042,640 A15S possibly damaging Het
Gm8011 A T 14: 42,466,000 D145V unknown Het
Gnb4 A G 3: 32,585,223 V307A probably benign Het
Hdac4 A T 1: 92,054,945 V17E possibly damaging Het
Herc6 G A 6: 57,583,333 probably null Het
Hivep3 A G 4: 120,132,186 T1945A probably benign Het
Ica1l A T 1: 60,010,139 N218K probably damaging Het
Kmt2b A T 7: 30,575,462 L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
March8 C T 6: 116,403,538 R117C probably damaging Het
Megf6 T C 4: 154,253,777 S327P probably damaging Het
Mocos T G 18: 24,676,611 C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 W14R probably benign Het
Mysm1 A T 4: 94,975,286 D23E probably benign Het
Naa35 T A 13: 59,586,271 D34E probably benign Het
Nid1 A G 13: 13,482,221 I646V probably benign Het
Nupr1 T C 7: 126,624,901 probably benign Het
Olfr1449 A T 19: 12,934,800 I21F probably benign Het
Olfr171 G T 16: 19,624,301 H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 L309R probably benign Het
Pcbp2 A C 15: 102,484,249 probably benign Het
Pde8b T C 13: 95,095,648 Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 S885P probably benign Het
Pole2 T C 12: 69,209,875 D292G probably damaging Het
Prpf39 T C 12: 65,042,779 V97A probably benign Het
Rbbp8 T A 18: 11,705,812 H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 T600M possibly damaging Het
Spata32 T C 11: 103,208,803 Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 probably benign Het
Sult3a1 A C 10: 33,877,273 probably benign Het
Tpm3-rs7 C T 14: 113,315,378 Q235* probably null Het
Trbv2 A T 6: 41,047,751 T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 Y193C probably benign Het
Ttn T C 2: 76,708,458 K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 Y433H probably damaging Het
Wdhd1 T C 14: 47,241,644 K1072E possibly damaging Het
Other mutations in Poc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Poc1b APN 10 99129652 missense probably benign 0.29
IGL01314:Poc1b APN 10 99129641 missense probably damaging 1.00
IGL02503:Poc1b APN 10 99144348 splice site probably benign
IGL02839:Poc1b APN 10 99144598 splice site probably benign
R0708:Poc1b UTSW 10 99155130 missense probably null 0.99
R0723:Poc1b UTSW 10 99129595 missense probably damaging 1.00
R1423:Poc1b UTSW 10 99152863 missense probably damaging 1.00
R4383:Poc1b UTSW 10 99156299 missense probably damaging 1.00
R4426:Poc1b UTSW 10 99155139 critical splice donor site probably null
R4427:Poc1b UTSW 10 99155139 critical splice donor site probably null
R5076:Poc1b UTSW 10 99107841 missense probably damaging 0.98
R6355:Poc1b UTSW 10 99129574 missense probably damaging 1.00
R6731:Poc1b UTSW 10 99152871 missense probably null 1.00
R6833:Poc1b UTSW 10 99192804 missense probably benign 0.16
R6834:Poc1b UTSW 10 99192804 missense probably benign 0.16
Posted On2015-12-18