Incidental Mutation 'IGL02936:Poc1a'
ID364306
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: 0.253) question?
Stock #IGL02936
Quality Score
Status
Chromosome9
Chromosomal Location106281061-106350521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106285027 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 84 (T84A)
Ref Sequence ENSEMBL: ENSMUSP00000072064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000214540] [ENSMUST00000216228] [ENSMUST00000217213]
Predicted Effect probably damaging
Transcript: ENSMUST00000072206
AA Change: T84A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: T84A

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 probably damaging
Transcript: ENSMUST00000191434
AA Change: T83A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: T83A

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: T67A
Predicted Effect unknown
Transcript: ENSMUST00000214483
AA Change: T67A
Predicted Effect probably damaging
Transcript: ENSMUST00000214540
AA Change: T46A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216228
AA Change: T46A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000216306
AA Change: T67A
Predicted Effect probably damaging
Transcript: ENSMUST00000217213
AA Change: T46A

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. 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Acer2 A T 4: 86,900,559 N148I possibly damaging Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Asb2 A G 12: 103,335,914 I125T probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Foxd3 T A 4: 99,656,815 V64E probably benign Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Rccd1 T A 7: 80,317,046 K329N probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Wt1 A G 2: 105,169,039 K308E probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Poc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Poc1a APN 9 106305304 missense probably benign 0.27
IGL02792:Poc1a APN 9 106295194 missense possibly damaging 0.75
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