Incidental Mutation 'IGL02792:Poc1a'
ID359776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poc1a
Ensembl Gene ENSMUSG00000023345
Gene NamePOC1 centriolar protein A
SynonymsWdr51a, 2510040D07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.294) question?
Stock #IGL02792
Quality Score
Status
Chromosome9
Chromosomal Location106281061-106350521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106295194 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 207 (I207F)
Ref Sequence ENSEMBL: ENSMUSP00000150865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000214540] [ENSMUST00000216228] [ENSMUST00000217213]
Predicted Effect probably benign
Transcript: ENSMUST00000072206
AA Change: I245F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: I245F

DomainStartEndE-ValueType
WD40 8 47 1.76e-9 SMART
WD40 50 89 5.51e-11 SMART
WD40 92 131 2.45e-8 SMART
WD40 134 173 5.14e-11 SMART
WD40 176 215 5.06e-10 SMART
WD40 218 257 9.97e-9 SMART
WD40 260 299 2.67e-9 SMART
low complexity region 315 326 N/A INTRINSIC
coiled coil region 367 395 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188660
Predicted Effect probably benign
Transcript: ENSMUST00000191434
AA Change: I244F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: I244F

DomainStartEndE-ValueType
WD40 7 46 1.76e-9 SMART
WD40 49 88 5.51e-11 SMART
WD40 91 130 2.45e-8 SMART
WD40 133 172 5.14e-11 SMART
WD40 175 214 5.06e-10 SMART
WD40 217 256 9.97e-9 SMART
WD40 259 298 2.67e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000214208
AA Change: I228F
Predicted Effect unknown
Transcript: ENSMUST00000214483
AA Change: I228F
Predicted Effect probably benign
Transcript: ENSMUST00000214540
AA Change: I207F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216228
AA Change: I207F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect unknown
Transcript: ENSMUST00000216306
AA Change: I228F
Predicted Effect possibly damaging
Transcript: ENSMUST00000217213
AA Change: I207F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
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. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adh7 A T 3: 138,223,737 K89I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klk13 A G 7: 43,721,414 E29G possibly damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr716 T C 7: 107,148,218 F301L probably benign Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Relb A T 7: 19,613,864 L281Q probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L probably damaging Het
Zfpm2 C A 15: 41,103,013 Q833K probably benign Het
Other mutations in Poc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Poc1a APN 9 106305304 missense probably benign 0.27
IGL02936:Poc1a APN 9 106285027 missense probably damaging 1.00
PIT4305001:Poc1a UTSW 9 106349829 missense
R2154:Poc1a UTSW 9 106285574 critical splice donor site probably null
R4658:Poc1a UTSW 9 106349688 missense possibly damaging 0.95
R4811:Poc1a UTSW 9 106349709 missense probably damaging 0.96
R5058:Poc1a UTSW 9 106349813 utr 3 prime probably benign
R5059:Poc1a UTSW 9 106349813 utr 3 prime probably benign
R5060:Poc1a UTSW 9 106349813 utr 3 prime probably benign
R5461:Poc1a UTSW 9 106288010 missense probably damaging 1.00
R7592:Poc1a UTSW 9 106349768 missense probably benign 0.28
RF009:Poc1a UTSW 9 106295218 missense possibly damaging 0.91
Posted On2015-12-18