Incidental Mutation 'PIT4305001:Poc1a'
ID 554564
Institutional Source Beutler Lab
Gene Symbol Poc1a
Ensembl Gene ENSMUSG00000023345
Gene Name POC1 centriolar protein A
Synonyms Wdr51a, 2510040D07Rik, cha
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # PIT4305001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106158260-106227720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106227028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 420 (Q420R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000214540] [ENSMUST00000216228] [ENSMUST00000217213]
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 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 probably benign
Transcript: ENSMUST00000214483
Predicted Effect probably benign
Transcript: ENSMUST00000214540
Predicted Effect probably benign
Transcript: ENSMUST00000216228
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000217213
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,086,610 (GRCm39) N801D probably benign Het
Adcy2 T C 13: 68,826,721 (GRCm39) K661R probably benign Het
Akap1 A T 11: 88,735,204 (GRCm39) M486K probably benign Het
Arhgap40 T A 2: 158,373,825 (GRCm39) I202N probably benign Het
C1qtnf2 T A 11: 43,382,022 (GRCm39) L248Q probably damaging Het
Casp1 A T 9: 5,306,135 (GRCm39) H340L probably benign Het
Cd5 A G 19: 10,703,750 (GRCm39) V104A possibly damaging Het
Celsr1 T A 15: 85,785,138 (GRCm39) E3032V possibly damaging Het
Cts7 A G 13: 61,504,386 (GRCm39) I59T probably damaging Het
Cutc G T 19: 43,756,708 (GRCm39) A267S probably damaging Het
Dmwd A G 7: 18,814,643 (GRCm39) Q431R probably damaging Het
Dnah6 T C 6: 73,042,738 (GRCm39) N3280S probably benign Het
Dnah7b A T 1: 46,412,508 (GRCm39) N4039I probably damaging Het
Dnaja4 T C 9: 54,617,918 (GRCm39) I260T probably benign Het
Drd5 T C 5: 38,477,927 (GRCm39) F307L probably damaging Het
Dsc2 C T 18: 20,179,300 (GRCm39) S256N probably damaging Het
Dstyk G T 1: 132,383,634 (GRCm39) E617* probably null Het
Dusp15 G A 2: 152,787,396 (GRCm39) H72Y probably benign Het
Dysf C T 6: 84,077,216 (GRCm39) R660* probably null Het
Fbxl13 T A 5: 21,727,146 (GRCm39) I584L probably benign Het
Gsap T C 5: 21,391,407 (GRCm39) L16P probably damaging Het
Hgsnat C T 8: 26,435,227 (GRCm39) A636T possibly damaging Het
Hivep1 A G 13: 42,335,147 (GRCm39) T161A Het
Hspg2 T C 4: 137,277,684 (GRCm39) S2928P possibly damaging Het
Ifi214 G A 1: 173,355,485 (GRCm39) P108S probably benign Het
Il17ra A T 6: 120,458,367 (GRCm39) Y506F probably damaging Het
Il9r T A 11: 32,144,734 (GRCm39) Q53L probably benign Het
Irf2bp2 C T 8: 127,319,398 (GRCm39) G260R probably damaging Het
Jdp2 T A 12: 85,685,626 (GRCm39) I129N probably damaging Het
Kif1b T C 4: 149,305,249 (GRCm39) probably null Het
Klrd1 A G 6: 129,573,670 (GRCm39) T120A unknown Het
Lfng A G 5: 140,598,283 (GRCm39) N202D probably damaging Het
Ltbp3 A G 19: 5,802,095 (GRCm39) E757G probably damaging Het
Ltn1 G A 16: 87,217,211 (GRCm39) P342L probably damaging Het
Lum A C 10: 97,404,738 (GRCm39) Y211S probably damaging Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Nlrc4 T C 17: 74,753,304 (GRCm39) T360A probably damaging Het
Or4c1 T C 2: 89,133,727 (GRCm39) I70V probably benign Het
Or7g32 T C 9: 19,389,357 (GRCm39) Y63C probably damaging Het
Pakap C A 4: 57,638,029 (GRCm39) T22K possibly damaging Het
Pde3a A G 6: 141,438,036 (GRCm39) D1035G probably benign Het
Phf20l1 A T 15: 66,484,901 (GRCm39) K322I possibly damaging Het
Pik3r3 A C 4: 116,149,323 (GRCm39) N349T probably benign Het
Prl7d1 A T 13: 27,898,320 (GRCm39) M63K possibly damaging Het
Rap1gds1 C A 3: 138,662,061 (GRCm39) M398I probably benign Het
Rapgef6 T A 11: 54,570,203 (GRCm39) V1192D probably damaging Het
Rif1 T C 2: 52,001,970 (GRCm39) V166A Het
Robo4 T C 9: 37,322,687 (GRCm39) Y847H probably damaging Het
Sardh T C 2: 27,118,326 (GRCm39) N468S probably damaging Het
Sema5a A G 15: 32,628,345 (GRCm39) T553A probably benign Het
Serpina12 A G 12: 104,001,976 (GRCm39) Y247H probably damaging Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Ston2 G T 12: 91,615,276 (GRCm39) D377E possibly damaging Het
Syne1 A G 10: 5,283,023 (GRCm39) S1557P probably damaging Het
Syt6 C T 3: 103,482,769 (GRCm39) R26W possibly damaging Het
Tep1 C T 14: 51,066,684 (GRCm39) G2305R possibly damaging Het
Ticrr A G 7: 79,328,771 (GRCm39) T637A possibly damaging Het
Tnn A T 1: 159,913,647 (GRCm39) F1546Y possibly damaging Het
Tpr A G 1: 150,315,888 (GRCm39) D2055G possibly damaging Het
Trim39 A G 17: 36,579,862 (GRCm39) V31A possibly damaging Het
Trpc7 G T 13: 57,035,321 (GRCm39) T204K probably benign Het
Urgcp T C 11: 5,667,996 (GRCm39) Y157C probably damaging Het
Vmn1r81 A T 7: 11,994,590 (GRCm39) I6K 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
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
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'- TTAAACTGCATGTGGCCCTGC -3'

Sequencing Primer
(F):5'- AGCGAGGCAGGCTTTCCATC -3'
(R):5'- GGGTCTCCAGTCTCCTTTTTGTG -3'
Posted On 2019-06-07