Incidental Mutation 'R5059:Poc1a'
ID 386524
Institutional Source Beutler Lab
Gene Symbol Poc1a
Ensembl Gene ENSMUSG00000023345
Gene Name POC1 centriolar protein A
Synonyms Wdr51a, 2510040D07Rik, cha
MMRRC Submission 042649-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R5059 (G1)
Quality Score 169
Status Validated
Chromosome 9
Chromosomal Location 106158260-106227720 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to T at 106227012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000217213] [ENSMUST00000216228] [ENSMUST00000214540]
AlphaFold Q8JZX3
Predicted Effect probably benign
Transcript: ENSMUST00000072206
SMART Domains Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345

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: ENSMUST00000186366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189325
Predicted Effect probably benign
Transcript: ENSMUST00000191434
SMART Domains Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345

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 probably benign
Transcript: ENSMUST00000214208
Predicted Effect unknown
Transcript: ENSMUST00000216306
AA Change: G415W
Predicted Effect probably benign
Transcript: ENSMUST00000214483
Predicted Effect probably benign
Transcript: ENSMUST00000217213
Predicted Effect probably benign
Transcript: ENSMUST00000216228
Predicted Effect probably benign
Transcript: ENSMUST00000214540
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,973,637 (GRCm39) N455I probably damaging Het
Alg12 A G 15: 88,695,659 (GRCm39) F279S probably damaging Het
Angpt4 A G 2: 151,776,360 (GRCm39) D296G probably damaging Het
Ank1 T A 8: 23,586,204 (GRCm39) S437T probably damaging Het
Apol7a G A 15: 77,274,012 (GRCm39) probably benign Het
Arhgef38 T A 3: 132,843,175 (GRCm39) Y465F probably damaging Het
Atp8a2 T G 14: 59,928,986 (GRCm39) T1023P probably benign Het
Cdh20 C A 1: 109,993,430 (GRCm39) A295E probably damaging Het
Cela3b T C 4: 137,152,181 (GRCm39) E92G probably benign Het
Cntnap5a T C 1: 116,356,224 (GRCm39) S752P probably benign Het
Dlx2 T C 2: 71,376,585 (GRCm39) H51R probably damaging Het
Dnm2 T C 9: 21,415,874 (GRCm39) I736T probably damaging Het
Dst A G 1: 34,202,427 (GRCm39) T252A possibly damaging Het
Fbxo40 T C 16: 36,790,658 (GRCm39) R151G possibly damaging Het
Gapdhs C T 7: 30,431,410 (GRCm39) A357T probably benign Het
Gon4l T A 3: 88,807,319 (GRCm39) M1671K probably benign Het
Gpi1 T C 7: 33,907,113 (GRCm39) Y327C probably damaging Het
Gucy2g T C 19: 55,214,503 (GRCm39) R542G probably benign Het
Hectd3 A G 4: 116,854,361 (GRCm39) K308E possibly damaging Het
Hip1 A G 5: 135,478,675 (GRCm39) F178S probably damaging Het
Hydin A G 8: 111,232,401 (GRCm39) D1640G probably damaging Het
Il18r1 G A 1: 40,520,227 (GRCm39) probably null Het
Kdm3b T C 18: 34,910,250 (GRCm39) S23P possibly damaging Het
Lactb T C 9: 66,882,426 (GRCm39) E83G probably benign Het
Larp4 A T 15: 99,903,171 (GRCm39) D414V probably damaging Het
Map2k5 T C 9: 63,164,296 (GRCm39) H336R probably benign Het
Mast4 T C 13: 102,887,071 (GRCm39) E1006G probably damaging Het
Mbd5 T C 2: 49,146,467 (GRCm39) S226P probably damaging Het
Micall1 A T 15: 79,007,034 (GRCm39) probably benign Het
Mtpap T A 18: 4,375,827 (GRCm39) probably benign Het
Or52ae7 A T 7: 103,119,488 (GRCm39) K81* probably null Het
Or5p58 A G 7: 107,694,522 (GRCm39) L85P probably damaging Het
Pnrc1 G A 4: 33,246,072 (GRCm39) Q296* probably null Het
Pramel28 A G 4: 143,691,565 (GRCm39) V386A probably damaging Het
Prkcsh T A 9: 21,924,046 (GRCm39) L439Q probably damaging Het
Prkdc T C 16: 15,655,882 (GRCm39) L3970P probably damaging Het
Ptcd1 G A 5: 145,089,034 (GRCm39) P542L probably benign Het
Rps6ka5 G A 12: 100,520,634 (GRCm39) T631I probably damaging Het
Rxfp1 T C 3: 79,570,619 (GRCm39) N271S probably benign Het
Taf6 A G 5: 138,177,709 (GRCm39) M541T probably benign Het
Tek T A 4: 94,692,551 (GRCm39) C169S probably benign Het
Tgfbr3l T A 8: 4,299,343 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,149 (GRCm39) N647D probably benign Het
Ube3c A G 5: 29,836,293 (GRCm39) K638R probably null Het
Vmn1r191 G A 13: 22,363,163 (GRCm39) A197V probably damaging Het
Vmn2r6 T C 3: 64,445,044 (GRCm39) T894A possibly damaging Het
Vstm4 T G 14: 32,585,687 (GRCm39) Y85D probably damaging Het
Wnt7a A G 6: 91,371,482 (GRCm39) I160T probably benign Het
Zc3h7a TAGAGAG TAGAGAGAG 16: 10,978,985 (GRCm39) probably null Het
Zfp988 A T 4: 147,416,372 (GRCm39) K269* probably null 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
R5060:Poc1a UTSW 9 106,227,012 (GRCm39) utr 3 prime probably benign
R5461:Poc1a UTSW 9 106,165,209 (GRCm39) missense probably damaging 1.00
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'- ATACTGACTCCTAGGGCAGC -3'
(R):5'- TAAACTGCATGTGGCCCTGC -3'

Sequencing Primer
(F):5'- AGCGAGGCAGGCTTTCCATC -3'
(R):5'- GGGTCTCCAGTCTCCTTTTTGTG -3'
Posted On 2016-06-06