Incidental Mutation 'R5484:Plekhs1'
ID430347
Institutional Source Beutler Lab
Gene Symbol Plekhs1
Ensembl Gene ENSMUSG00000035818
Gene Namepleckstrin homology domain containing, family S member 1
Synonyms9930023K05Rik
MMRRC Submission 043045-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #R5484 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location56461640-56486752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56479828 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 276 (S276L)
Ref Sequence ENSEMBL: ENSMUSP00000136674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590] [ENSMUST00000225909]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039666
AA Change: S276L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: S276L

DomainStartEndE-ValueType
PH 21 137 4.68e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178590
AA Change: S276L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: S276L

DomainStartEndE-ValueType
PH 21 136 1.77e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225391
Predicted Effect probably benign
Transcript: ENSMUST00000225909
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,471,931 H609R probably benign Het
Abca6 A T 11: 110,184,073 V1388E probably damaging Het
Alx1 T A 10: 103,025,316 D117V probably damaging Het
Ascl4 T C 10: 85,928,537 L16P probably damaging Het
Atp4a G A 7: 30,720,672 probably benign Het
Btnl10 G A 11: 58,923,825 V444M probably damaging Het
Camkv A T 9: 107,946,146 N124Y probably damaging Het
Catsperb T C 12: 101,575,916 L625P probably benign Het
Ccdc171 A G 4: 83,693,962 I973V probably benign Het
Celsr1 T C 15: 85,931,282 D1844G probably benign Het
Chd7 G C 4: 8,828,258 K1066N probably damaging Het
Cmklr1 C G 5: 113,614,929 D4H possibly damaging Het
Corin T C 5: 72,358,484 D409G probably benign Het
Cry1 T C 10: 85,146,724 probably null Het
Cttnbp2 T A 6: 18,427,690 probably benign Het
Dmxl1 T A 18: 49,889,464 V1623E probably damaging Het
Dnah6 G T 6: 73,092,116 D2477E possibly damaging Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dopey1 C G 9: 86,545,288 R2164G probably damaging Het
Dsp A G 13: 38,184,038 T678A possibly damaging Het
Fam129a A G 1: 151,718,086 T841A probably benign Het
Fam49b T A 15: 63,943,207 T139S probably damaging Het
Farsb A C 1: 78,476,196 I51S probably damaging Het
Gm10220 T A 5: 26,117,932 I161L possibly damaging Het
Gm10782 G T 13: 56,363,174 noncoding transcript Het
Gm12830 A T 4: 114,845,051 T137S unknown Het
Gopc A G 10: 52,358,846 L67P probably damaging Het
Hmcn1 T C 1: 150,675,540 I2655V probably benign Het
Hmcn2 C T 2: 31,393,054 Q1981* probably null Het
Ifi209 T A 1: 173,641,074 S157T probably benign Het
Iqcf1 A T 9: 106,501,908 I74F probably damaging Het
Irf3 A T 7: 44,999,958 R78W probably damaging Het
Kank4 T C 4: 98,774,785 D722G probably benign Het
Loxl1 A G 9: 58,290,782 V597A possibly damaging Het
Marveld1 T C 19: 42,147,833 L62P probably damaging Het
Mga T G 2: 119,916,626 D419E possibly damaging Het
Mroh2a A G 1: 88,258,664 S64G probably benign Het
Mroh2b A G 15: 4,908,981 K251E possibly damaging Het
Myh4 A G 11: 67,251,818 E935G probably damaging Het
Nat8f2 C A 6: 85,868,012 A123S possibly damaging Het
Olfr1423 G A 19: 12,035,828 L305F probably benign Het
Pcdha9 T A 18: 36,998,103 V75E probably damaging Het
Pebp4 A T 14: 69,963,542 probably null Het
Pitx1 A G 13: 55,826,353 S222P probably benign Het
Plekhg3 G A 12: 76,578,400 V1339M possibly damaging Het
Plin4 T C 17: 56,104,932 T700A possibly damaging Het
Plxnb2 T C 15: 89,164,209 probably null Het
Pms2 T C 5: 143,928,125 I675T probably damaging Het
Polrmt A G 10: 79,742,054 L268P probably damaging Het
Rtp1 A G 16: 23,429,275 T33A probably benign Het
Safb2 T C 17: 56,575,346 probably benign Het
Sdk1 C A 5: 142,100,186 P1383Q probably damaging Het
Setdb1 A T 3: 95,337,258 C758S probably damaging Het
Sh3gl2 T C 4: 85,398,923 probably benign Het
Slc13a2 G A 11: 78,404,822 probably benign Het
Slc35b1 T C 11: 95,387,805 Y126H probably damaging Het
Strip2 C A 6: 29,917,155 probably benign Het
Tbx4 A G 11: 85,914,404 T440A probably damaging Het
Tcf7l2 C A 19: 55,919,508 probably null Het
Tgfb1 A C 7: 25,688,149 D94A probably benign Het
Tmem132b T C 5: 125,787,733 C968R probably damaging Het
Tmem176b T A 6: 48,834,533 M61L probably benign Het
Tmem258 A G 19: 10,207,325 probably null Het
Tpr T C 1: 150,426,888 L1379S probably benign Het
Ttc26 T G 6: 38,389,122 C124W probably benign Het
Vmn2r44 T C 7: 8,380,124 D157G possibly damaging Het
Wfdc8 T C 2: 164,597,729 I244M probably benign Het
Zfp341 T C 2: 154,625,001 S97P probably benign Het
Zfp655 T C 5: 145,243,635 V101A probably benign Het
Zfp788 T C 7: 41,649,853 S586P probably damaging Het
Zfp874b C T 13: 67,481,254 V52I possibly damaging Het
Other mutations in Plekhs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Plekhs1 APN 19 56464599 critical splice donor site probably null
IGL01387:Plekhs1 APN 19 56470971 missense probably benign 0.00
IGL02506:Plekhs1 APN 19 56471766 missense probably damaging 1.00
FR4304:Plekhs1 UTSW 19 56479858 unclassified probably benign
FR4340:Plekhs1 UTSW 19 56479858 unclassified probably benign
FR4342:Plekhs1 UTSW 19 56479858 unclassified probably benign
FR4342:Plekhs1 UTSW 19 56479861 unclassified probably benign
FR4589:Plekhs1 UTSW 19 56479863 unclassified probably benign
FR4737:Plekhs1 UTSW 19 56479863 unclassified probably benign
IGL03052:Plekhs1 UTSW 19 56470757 missense probably benign 0.43
R0023:Plekhs1 UTSW 19 56478516 missense probably damaging 0.99
R0023:Plekhs1 UTSW 19 56478516 missense probably damaging 0.99
R0100:Plekhs1 UTSW 19 56478502 missense probably damaging 1.00
R0100:Plekhs1 UTSW 19 56478502 missense probably damaging 1.00
R0129:Plekhs1 UTSW 19 56477290 critical splice donor site probably null
R0498:Plekhs1 UTSW 19 56481104 unclassified probably null
R1264:Plekhs1 UTSW 19 56485763 missense probably benign
R1528:Plekhs1 UTSW 19 56479995 missense probably damaging 1.00
R1650:Plekhs1 UTSW 19 56471042 missense probably damaging 1.00
R1820:Plekhs1 UTSW 19 56478522 missense possibly damaging 0.48
R2884:Plekhs1 UTSW 19 56470826 missense probably benign 0.01
R3237:Plekhs1 UTSW 19 56464600 splice site probably null
R4395:Plekhs1 UTSW 19 56479894 missense probably benign
R4825:Plekhs1 UTSW 19 56473268 splice site probably null
R5511:Plekhs1 UTSW 19 56485792 missense probably damaging 0.97
R7105:Plekhs1 UTSW 19 56477215 missense probably damaging 0.99
R7267:Plekhs1 UTSW 19 56470777 missense probably damaging 0.96
R8212:Plekhs1 UTSW 19 56471756 missense probably damaging 1.00
RF025:Plekhs1 UTSW 19 56479858 unclassified probably benign
RF043:Plekhs1 UTSW 19 56479858 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GATGTTTGCACAGACTTCGGG -3'
(R):5'- AATGTGTCTGCCTCGCTCTTAG -3'

Sequencing Primer
(F):5'- GCACAGACTTCGGGACTTTG -3'
(R):5'- GCTCTTAGGGCCCACAAAGTTTTAG -3'
Posted On2016-10-05