Incidental Mutation 'R6028:Plekhh3'
ID480195
Institutional Source Beutler Lab
Gene Symbol Plekhh3
Ensembl Gene ENSMUSG00000035172
Gene Namepleckstrin homology domain containing, family H (with MyTH4 domain) member 3
Synonyms
MMRRC Submission 044200-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R6028 (G1)
Quality Score108.008
Status Validated
Chromosome11
Chromosomal Location101162679-101171351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101166570 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000156320
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
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: 36,479,569 probably null Het
Acat1 A T 9: 53,592,066 Y158N probably damaging Het
Adamtsl1 C A 4: 86,342,324 A924E probably damaging Het
Adck1 A T 12: 88,402,132 M127L probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alad G T 4: 62,510,122 T305K probably benign Het
Ankrd33 T C 15: 101,119,072 F65S probably damaging Het
Ap3d1 T C 10: 80,722,927 N281S possibly damaging Het
Arhgap30 A G 1: 171,408,320 D754G probably benign Het
Asah2 T C 19: 32,016,514 D438G probably damaging Het
Cachd1 C A 4: 100,983,556 N905K probably damaging Het
Cdh23 G T 10: 60,534,535 D160E probably damaging Het
Cntln T A 4: 84,971,173 S298T probably benign Het
Dnah5 T A 15: 28,387,833 M3146K probably damaging Het
Doc2b C A 11: 75,772,586 A347S probably benign Het
Eps8l2 T C 7: 141,357,833 F422S possibly damaging Het
Esm1 A G 13: 113,216,667 N161S possibly damaging Het
Fbxw10 C T 11: 62,873,519 Q671* probably null Het
Fnbp4 C A 2: 90,751,134 T177K probably benign Het
Gm11639 T C 11: 104,769,655 probably null Het
Gm6803 A T 12: 88,018,361 D137E possibly damaging Het
Gpr137c C A 14: 45,277,481 Q266K probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,997,940 probably benign Het
Hk1 C A 10: 62,353,058 K25N probably null Het
Klhl29 G T 12: 5,090,995 Y616* probably null Het
Lman1l A G 9: 57,608,263 I443T probably damaging Het
Lmnb1 T G 18: 56,743,276 Y485* probably null Het
Lrrc63 A G 14: 75,086,174 S537P possibly damaging Het
Ltbp2 T A 12: 84,784,852 N1686I probably damaging Het
Map9 T A 3: 82,380,248 probably null Het
Marco T A 1: 120,490,942 Q194L probably damaging Het
Mc3r A T 2: 172,249,209 D117V probably damaging Het
Meltf T A 16: 31,887,476 D259E possibly damaging Het
Mical1 A T 10: 41,486,877 M973L probably benign Het
Mmp21 T C 7: 133,678,714 T176A probably benign Het
Mterf1b T A 5: 4,197,666 probably null Het
Muc16 G A 9: 18,657,176 S1349F unknown Het
Nacc2 A G 2: 26,061,578 V415A probably damaging Het
Ncl A G 1: 86,356,133 V322A probably benign Het
Neb G A 2: 52,193,231 T1639I probably damaging Het
Nfia A G 4: 98,111,251 H485R possibly damaging Het
Nlrp9a C T 7: 26,558,337 T460I probably benign Het
Olfr1079 T A 2: 86,538,769 I49F possibly damaging Het
Olfr938 T A 9: 39,078,083 I221F probably damaging Het
Patl2 T A 2: 122,126,137 Q158L possibly damaging Het
Pja2 T C 17: 64,309,090 D270G probably benign Het
Pkd1l1 T C 11: 8,836,267 H1929R probably benign Het
Polb G T 8: 22,639,995 S187* probably null Het
Popdc3 A G 10: 45,317,919 D272G probably benign Het
Prkar2b A T 12: 31,993,758 D121E possibly damaging Het
Psmd3 T A 11: 98,685,665 L131Q probably damaging Het
Ptcd3 A T 6: 71,898,408 C197S probably damaging Het
Ptprf A T 4: 118,213,629 V1391D probably benign Het
Purb A G 11: 6,475,150 F246S probably damaging Het
Rgs8 C A 1: 153,690,988 T95N probably damaging Het
Slc2a13 T C 15: 91,276,116 N545S probably damaging Het
Smpd2 A G 10: 41,489,348 W51R probably damaging Het
Srgap1 T C 10: 121,828,730 Q490R probably null Het
Strbp G A 2: 37,625,255 T253I probably damaging Het
Sult1d1 A T 5: 87,559,826 M145K probably damaging Het
Taf5l A C 8: 124,002,975 probably null Het
Tas2r131 T G 6: 132,957,676 I57L probably benign Het
Tcf25 A G 8: 123,381,437 N77S possibly damaging Het
Tmem253 A G 14: 52,017,811 T57A possibly damaging Het
Tspan17 A G 13: 54,793,298 N130S probably damaging Het
Utrn T C 10: 12,654,716 S2118G probably benign Het
Vmn2r3 T A 3: 64,275,277 T334S probably benign Het
Wnk2 G T 13: 49,076,345 A901E probably damaging Het
Zc3hav1 T C 6: 38,307,340 T947A probably benign Het
Zfhx3 C T 8: 108,793,503 P419L probably damaging Het
Zfp292 A G 4: 34,819,549 S258P probably damaging Het
Zfp964 A G 8: 69,663,913 T388A unknown Het
Other mutations in Plekhh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Plekhh3 APN 11 101165693 critical splice acceptor site probably null
R0139:Plekhh3 UTSW 11 101163675 unclassified probably benign
R0385:Plekhh3 UTSW 11 101165141 missense probably damaging 1.00
R0559:Plekhh3 UTSW 11 101164766 missense possibly damaging 0.86
R1839:Plekhh3 UTSW 11 101163600 unclassified probably benign
R2845:Plekhh3 UTSW 11 101170230 intron probably benign
R3110:Plekhh3 UTSW 11 101164147 unclassified probably benign
R3111:Plekhh3 UTSW 11 101164147 unclassified probably benign
R3112:Plekhh3 UTSW 11 101164147 unclassified probably benign
R4882:Plekhh3 UTSW 11 101165183 missense probably damaging 0.96
R4882:Plekhh3 UTSW 11 101167938 missense probably null 1.00
R5290:Plekhh3 UTSW 11 101166571 missense possibly damaging 0.61
R5328:Plekhh3 UTSW 11 101167658 intron probably benign
R6008:Plekhh3 UTSW 11 101164765 missense possibly damaging 0.86
R6156:Plekhh3 UTSW 11 101170187 intron probably benign
R6952:Plekhh3 UTSW 11 101165656 missense probably damaging 1.00
R6994:Plekhh3 UTSW 11 101165693 critical splice acceptor site probably null
R7120:Plekhh3 UTSW 11 101168238 missense probably damaging 0.96
R7324:Plekhh3 UTSW 11 101170774 missense possibly damaging 0.94
R7487:Plekhh3 UTSW 11 101165579 missense possibly damaging 0.94
R7525:Plekhh3 UTSW 11 101166619 missense probably damaging 1.00
R7637:Plekhh3 UTSW 11 101164327 missense unknown
R8345:Plekhh3 UTSW 11 101164279 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 On2017-06-26