Incidental Mutation 'R0559:Plekhh3'
ID 45798
Institutional Source Beutler Lab
Gene Symbol Plekhh3
Ensembl Gene ENSMUSG00000035172
Gene Name pleckstrin homology domain containing, family H (with MyTH4 domain) member 3
Synonyms
MMRRC Submission 038751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R0559 (G1)
Quality Score 206
Status Validated
Chromosome 11
Chromosomal Location 101053505-101062177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101055592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 483 (E483K)
Ref Sequence ENSEMBL: ENSMUSP00000137841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000043654] [ENSMUST00000123864] [ENSMUST00000129895] [ENSMUST00000164474]
AlphaFold Q8VCE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000043397
AA Change: E483K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: E483K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 285 398 4.2e-21 PFAM
B41 400 664 2.91e-4 SMART
low complexity region 750 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043654
SMART Domains Protein: ENSMUSP00000045901
Gene: ENSMUSG00000045007

DomainStartEndE-ValueType
Tubulin 48 247 1.11e-58 SMART
Tubulin_C 249 393 4.52e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123864
SMART Domains Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172

DomainStartEndE-ValueType
PH 95 200 1.9e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000129895
AA Change: E483K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: E483K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 281 399 2.7e-16 PFAM
B41 400 664 5.17e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000139200
AA Change: E97K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156320
Predicted Effect possibly damaging
Transcript: ENSMUST00000164474
AA Change: E480K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: E480K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 281 399 3.3e-16 PFAM
B41 400 661 6.14e-4 SMART
low complexity region 747 763 N/A INTRINSIC
Meta Mutation Damage Score 0.1576 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,748,535 (GRCm39) I289F probably benign Het
Adam15 G A 3: 89,251,085 (GRCm39) A540V probably damaging Het
Adat1 T C 8: 112,709,062 (GRCm39) T254A probably damaging Het
Agtpbp1 A G 13: 59,644,814 (GRCm39) V684A probably benign Het
Ahi1 A G 10: 20,876,618 (GRCm39) probably benign Het
Arl5b T C 2: 15,077,998 (GRCm39) Y108H probably damaging Het
Cep85l A G 10: 53,224,597 (GRCm39) F331L probably benign Het
Ctnna2 T C 6: 76,892,833 (GRCm39) K785E probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dicer1 G A 12: 104,672,560 (GRCm39) R896W probably damaging Het
Eif1ad19 T A 12: 87,740,223 (GRCm39) H112L probably benign Het
Fbxl19 G T 7: 127,349,390 (GRCm39) W160L possibly damaging Het
H1f8 T C 6: 115,924,760 (GRCm39) Y89H probably damaging Het
Ipo5 T C 14: 121,176,053 (GRCm39) V626A probably damaging Het
Isx A G 8: 75,600,369 (GRCm39) K34R probably benign Het
Myh6 T C 14: 55,196,011 (GRCm39) E596G probably benign Het
Olfml2a T C 2: 38,849,832 (GRCm39) I516T probably damaging Het
Or14j5 C T 17: 38,161,746 (GRCm39) R88* probably null Het
Or5w12 T G 2: 87,502,244 (GRCm39) T156P possibly damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Parp9 T C 16: 35,768,362 (GRCm39) F181L probably benign Het
Pkdcc G A 17: 83,523,454 (GRCm39) G187D probably benign Het
Ptx4 C T 17: 25,342,082 (GRCm39) Q186* probably null Het
Qsox2 T A 2: 26,104,169 (GRCm39) H287L probably benign Het
Rev3l G A 10: 39,700,483 (GRCm39) G1660D probably damaging Het
Scamp1 G T 13: 94,344,690 (GRCm39) A217E possibly damaging Het
Slc5a9 T C 4: 111,742,779 (GRCm39) I438V probably benign Het
Sort1 T C 3: 108,263,895 (GRCm39) F818S probably damaging Het
Srl G A 16: 4,314,842 (GRCm39) P267S probably benign Het
Tbc1d1 T C 5: 64,331,136 (GRCm39) I105T probably damaging Het
Tifab A G 13: 56,324,060 (GRCm39) Y128H probably benign Het
Trp53bp1 A T 2: 121,058,282 (GRCm39) S907T probably damaging Het
Ubr1 G A 2: 120,778,364 (GRCm39) R225* probably null Het
Upk3bl A G 5: 136,086,330 (GRCm39) T89A probably benign Het
Vars1 T A 17: 35,233,034 (GRCm39) C916* probably null Het
Ywhaz T C 15: 36,791,208 (GRCm39) E5G possibly damaging Het
Zfp91 T C 19: 12,747,419 (GRCm39) D568G probably damaging Het
Zgpat T C 2: 181,021,985 (GRCm39) probably benign Het
Other mutations in Plekhh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Plekhh3 APN 11 101,056,519 (GRCm39) critical splice acceptor site probably null
R0139:Plekhh3 UTSW 11 101,054,501 (GRCm39) unclassified probably benign
R0385:Plekhh3 UTSW 11 101,055,967 (GRCm39) missense probably damaging 1.00
R1839:Plekhh3 UTSW 11 101,054,426 (GRCm39) unclassified probably benign
R2845:Plekhh3 UTSW 11 101,061,056 (GRCm39) intron probably benign
R3110:Plekhh3 UTSW 11 101,054,973 (GRCm39) unclassified probably benign
R3111:Plekhh3 UTSW 11 101,054,973 (GRCm39) unclassified probably benign
R3112:Plekhh3 UTSW 11 101,054,973 (GRCm39) unclassified probably benign
R4882:Plekhh3 UTSW 11 101,058,764 (GRCm39) missense probably null 1.00
R4882:Plekhh3 UTSW 11 101,056,009 (GRCm39) missense probably damaging 0.96
R5290:Plekhh3 UTSW 11 101,057,397 (GRCm39) missense possibly damaging 0.61
R5328:Plekhh3 UTSW 11 101,058,484 (GRCm39) intron probably benign
R6008:Plekhh3 UTSW 11 101,055,591 (GRCm39) missense possibly damaging 0.86
R6028:Plekhh3 UTSW 11 101,057,396 (GRCm39) missense probably damaging 1.00
R6156:Plekhh3 UTSW 11 101,061,013 (GRCm39) intron probably benign
R6952:Plekhh3 UTSW 11 101,056,482 (GRCm39) missense probably damaging 1.00
R6994:Plekhh3 UTSW 11 101,056,519 (GRCm39) critical splice acceptor site probably null
R7120:Plekhh3 UTSW 11 101,059,064 (GRCm39) missense probably damaging 0.96
R7324:Plekhh3 UTSW 11 101,061,600 (GRCm39) missense possibly damaging 0.94
R7487:Plekhh3 UTSW 11 101,056,405 (GRCm39) missense possibly damaging 0.94
R7525:Plekhh3 UTSW 11 101,057,445 (GRCm39) missense probably damaging 1.00
R7637:Plekhh3 UTSW 11 101,055,153 (GRCm39) missense unknown
R8345:Plekhh3 UTSW 11 101,055,105 (GRCm39) missense unknown
R8827:Plekhh3 UTSW 11 101,058,380 (GRCm39) missense probably damaging 1.00
R8919:Plekhh3 UTSW 11 101,057,225 (GRCm39) missense probably benign 0.18
R9112:Plekhh3 UTSW 11 101,061,625 (GRCm39) missense probably damaging 1.00
R9549:Plekhh3 UTSW 11 101,056,015 (GRCm39) critical splice acceptor site probably null
R9599:Plekhh3 UTSW 11 101,054,972 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGAAGCTGTAAAGACACCTCCCG -3'
(R):5'- AGCTCCTTGATCCTCTGACAAGTCC -3'

Sequencing Primer
(F):5'- ACCTCCCGGTACGGAATC -3'
(R):5'- GACAAGTCCTTACCCGCTG -3'
Posted On 2013-06-11