Incidental Mutation 'R6028:Plekhh3'
ID 480195
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 044200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6028 (G1)
Quality Score 108.008
Status Validated
Chromosome 11
Chromosomal Location 101053505-101062177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101057396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 287 (M287K)
Ref Sequence ENSEMBL: ENSMUSP00000127088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000043654] [ENSMUST00000123864] [ENSMUST00000129895] [ENSMUST00000164474]
AlphaFold Q8VCE9
Predicted Effect probably damaging
Transcript: ENSMUST00000043397
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: M287K

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 probably damaging
Transcript: ENSMUST00000129895
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: M287K

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 noncoding transcript
Transcript: ENSMUST00000138942
Predicted Effect probably benign
Transcript: ENSMUST00000139200
Predicted Effect probably damaging
Transcript: ENSMUST00000164474
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: M287K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156320
Meta Mutation Damage Score 0.3665 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Adck1 A T 12: 88,368,902 (GRCm39) M127L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Ankrd33 T C 15: 101,016,953 (GRCm39) F65S probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arhgap30 A G 1: 171,235,888 (GRCm39) D754G probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Cachd1 C A 4: 100,840,753 (GRCm39) N905K probably damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Doc2b C A 11: 75,663,412 (GRCm39) A347S probably benign Het
Efcab3 T C 11: 104,660,481 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,131 (GRCm39) D137E possibly damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
Esm1 A G 13: 113,353,201 (GRCm39) N161S possibly damaging Het
Fbxw10 C T 11: 62,764,345 (GRCm39) Q671* probably null Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gpr137c C A 14: 45,514,938 (GRCm39) Q266K probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk1 C A 10: 62,188,837 (GRCm39) K25N probably null Het
Klhl29 G T 12: 5,140,995 (GRCm39) Y616* probably null Het
Lmnb1 T G 18: 56,876,348 (GRCm39) Y485* probably null Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Ltbp2 T A 12: 84,831,626 (GRCm39) N1686I probably damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marco T A 1: 120,418,671 (GRCm39) Q194L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Meltf T A 16: 31,706,294 (GRCm39) D259E possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Mterf1b T A 5: 4,247,666 (GRCm39) probably null Het
Muc16 G A 9: 18,568,472 (GRCm39) S1349F unknown Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Ncl A G 1: 86,283,855 (GRCm39) V322A probably benign Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Patl2 T A 2: 121,956,618 (GRCm39) Q158L possibly damaging Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Pkd1l1 T C 11: 8,786,267 (GRCm39) H1929R probably benign Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Popdc3 A G 10: 45,194,015 (GRCm39) D272G probably benign Het
Prkar2b A T 12: 32,043,757 (GRCm39) D121E possibly damaging Het
Psmd3 T A 11: 98,576,491 (GRCm39) L131Q probably damaging Het
Ptcd3 A T 6: 71,875,392 (GRCm39) C197S probably damaging Het
Ptprf A T 4: 118,070,826 (GRCm39) V1391D probably benign Het
Purb A G 11: 6,425,150 (GRCm39) F246S probably damaging Het
Rgs8 C A 1: 153,566,734 (GRCm39) T95N probably damaging Het
Slc2a13 T C 15: 91,160,319 (GRCm39) N545S probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Srgap1 T C 10: 121,664,635 (GRCm39) Q490R probably null Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Utrn T C 10: 12,530,460 (GRCm39) S2118G probably benign Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown 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
R0559:Plekhh3 UTSW 11 101,055,592 (GRCm39) missense possibly damaging 0.86
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
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'- GCTGAGGCCTCTGCTCTTAC -3'
(R):5'- GACCTTCCTCTGGATCGTGC -3'

Sequencing Primer
(F):5'- TTTCCAAATGCCCTAGGAGG -3'
(R):5'- GGATCGTGCCTTCCTCCCAG -3'
Posted On 2017-06-26