Incidental Mutation 'R1820:Plekhs1'
ID204826
Institutional Source Beutler Lab
Gene Symbol Plekhs1
Ensembl Gene ENSMUSG00000035818
Gene Namepleckstrin homology domain containing, family S member 1
Synonyms9930023K05Rik
MMRRC Submission 039848-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R1820 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location56461640-56486752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56478522 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 262 (R262G)
Ref Sequence ENSEMBL: ENSMUSP00000136674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590] [ENSMUST00000225909]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039666
AA Change: R262G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: R262G

DomainStartEndE-ValueType
PH 21 137 4.68e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178590
AA Change: R262G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: R262G

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,269,645 K3106E unknown Het
2700049A03Rik T C 12: 71,150,244 V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,090 noncoding transcript Het
Acbd3 A G 1: 180,745,138 N321S probably benign Het
Actr3b T C 5: 25,849,158 probably null Het
Aldh5a1 T C 13: 24,927,572 D124G probably benign Het
Arhgap35 G A 7: 16,561,949 R1064W possibly damaging Het
Arhgef9 T A X: 95,081,536 I225F probably damaging Het
Arl16 T C 11: 120,466,761 T43A probably damaging Het
Camsap3 T C 8: 3,603,485 W409R probably damaging Het
Cfap43 T A 19: 47,897,216 H320L probably damaging Het
Chac2 T A 11: 30,977,496 N141I probably damaging Het
Chtf18 C A 17: 25,725,939 G211C probably damaging Het
Cwf19l1 T A 19: 44,127,387 Y201F probably benign Het
Dcun1d1 A T 3: 35,919,004 L114* probably null Het
Fam160a1 T A 3: 85,665,829 T938S probably damaging Het
Fdps A T 3: 89,095,043 H249Q probably benign Het
Gabrg1 T A 5: 70,774,413 Y329F probably damaging Het
Kctd8 T A 5: 69,340,341 I321F probably damaging Het
Kdm5b G T 1: 134,597,670 R299L possibly damaging Het
Kif23 T C 9: 61,926,438 T494A possibly damaging Het
Kmt2e A G 5: 23,473,547 H208R probably damaging Het
Lipo5 A T 19: 33,464,595 probably null Het
Lrrc28 G T 7: 67,641,111 T54K probably damaging Het
Luc7l2 G A 6: 38,598,819 probably null Het
Man2a2 A G 7: 80,358,933 F899L probably benign Het
Myo9b T C 8: 71,333,358 I633T probably damaging Het
Nynrin A T 14: 55,870,378 I981F possibly damaging Het
Olfr262 A T 19: 12,241,248 S138T probably damaging Het
Olfr945 A G 9: 39,258,399 I91T possibly damaging Het
Pank1 A G 19: 34,877,684 probably null Het
Phc2 C T 4: 128,743,543 A47V probably damaging Het
Pnp2 C A 14: 50,964,457 P300Q possibly damaging Het
Polq T A 16: 37,029,418 S345T possibly damaging Het
Prag1 A G 8: 36,103,804 T514A probably benign Het
Psmd5 T C 2: 34,870,746 probably null Het
Rfx6 T G 10: 51,723,125 probably null Het
Rhbdd2 G A 5: 135,636,049 C78Y probably damaging Het
Rnf157 G T 11: 116,354,651 P313T probably damaging Het
Ryr2 A G 13: 11,587,316 L4560P probably damaging Het
Scai A T 2: 39,106,978 M268K possibly damaging Het
Scd3 A T 19: 44,241,806 T343S probably benign Het
Scimp A T 11: 70,791,597 S98T probably benign Het
Sfrp2 A G 3: 83,773,154 N207S probably benign Het
Shf G A 2: 122,368,682 P51S probably damaging Het
Sis T C 3: 72,921,142 Y1200C probably damaging Het
Sp1 T A 15: 102,409,076 S343R possibly damaging Het
Spata31d1a A T 13: 59,701,255 C1020S possibly damaging Het
Spink5 A G 18: 43,989,419 N317S possibly damaging Het
Sptbn2 A G 19: 4,726,596 D224G probably damaging Het
St8sia3 T C 18: 64,269,632 I114T probably damaging Het
Zscan5b C A 7: 6,239,163 H460Q probably 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 splice site 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
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
R5484:Plekhs1 UTSW 19 56479828 missense possibly damaging 0.82
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
R8458:Plekhs1 UTSW 19 56477158 missense probably benign 0.36
R8905:Plekhs1 UTSW 19 56482596 missense probably damaging 1.00
R8962:Plekhs1 UTSW 19 56473248 missense possibly damaging 0.73
RF025:Plekhs1 UTSW 19 56479858 unclassified probably benign
RF043:Plekhs1 UTSW 19 56479858 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTTATTCCAGATGCAGAGAGGC -3'
(R):5'- GCCTTGTAGCAATTTGTCAACAAC -3'

Sequencing Primer
(F):5'- CCAGATGCAGAGAGGCGTGAG -3'
(R):5'- GAAATCCCAGTGCTTCTGTGACAAG -3'
Posted On2014-06-23