Incidental Mutation 'R5461:Poc1a'
ID 433032
Institutional Source Beutler Lab
Gene Symbol Poc1a
Ensembl Gene ENSMUSG00000023345
Gene Name POC1 centriolar protein A
Synonyms Wdr51a, 2510040D07Rik, cha
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # R5461 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106158260-106227720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106165209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 157 (F157L)
Ref Sequence ENSEMBL: ENSMUSP00000150865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000214540] [ENSMUST00000216228] [ENSMUST00000217213]
AlphaFold Q8JZX3
Predicted Effect probably damaging
Transcript: ENSMUST00000072206
AA Change: F195L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: F195L

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 damaging
Transcript: ENSMUST00000191434
AA Change: F194L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: F194L

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: F178L
Predicted Effect unknown
Transcript: ENSMUST00000214483
AA Change: F178L
Predicted Effect probably damaging
Transcript: ENSMUST00000214540
AA Change: F157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216228
AA Change: F157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000216306
AA Change: F178L
Predicted Effect probably damaging
Transcript: ENSMUST00000217213
AA Change: F157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9256 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign Het
Other mutations in Poc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Poc1a APN 9 106,182,503 (GRCm39) missense probably benign 0.27
IGL02792:Poc1a APN 9 106,172,393 (GRCm39) missense possibly damaging 0.75
IGL02936:Poc1a APN 9 106,162,226 (GRCm39) missense probably damaging 1.00
PIT4305001:Poc1a UTSW 9 106,227,028 (GRCm39) missense
R2154:Poc1a UTSW 9 106,162,773 (GRCm39) critical splice donor site probably null
R4658:Poc1a UTSW 9 106,226,887 (GRCm39) missense possibly damaging 0.95
R4811:Poc1a UTSW 9 106,226,908 (GRCm39) missense probably damaging 0.96
R5058:Poc1a UTSW 9 106,227,012 (GRCm39) utr 3 prime probably benign
R5059:Poc1a UTSW 9 106,227,012 (GRCm39) utr 3 prime probably benign
R5060:Poc1a UTSW 9 106,227,012 (GRCm39) utr 3 prime probably benign
R7592:Poc1a UTSW 9 106,226,967 (GRCm39) missense probably benign 0.28
R8680:Poc1a UTSW 9 106,226,960 (GRCm39) missense probably benign
R9122:Poc1a UTSW 9 106,162,242 (GRCm39) missense probably benign 0.01
RF009:Poc1a UTSW 9 106,172,417 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GCCAGGGCAACATACTGAATATAG -3'
(R):5'- CAATGAAGCAAATGGCCGGC -3'

Sequencing Primer
(F):5'- GGACATGGTCCCTGATAAGTCTAC -3'
(R):5'- AGCAAATGGCCGGCCCTAG -3'
Posted On 2016-10-06