Incidental Mutation 'R1264:Plekhs1'
ID 151133
Institutional Source Beutler Lab
Gene Symbol Plekhs1
Ensembl Gene ENSMUSG00000035818
Gene Name pleckstrin homology domain containing, family S member 1
Synonyms 9930023K05Rik
MMRRC Submission 039331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R1264 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56450072-56475184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56474195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 447 (V447A)
Ref Sequence ENSEMBL: ENSMUSP00000136674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590]
AlphaFold Q8BW88
Predicted Effect probably benign
Transcript: ENSMUST00000039666
AA Change: V447A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: V447A

DomainStartEndE-ValueType
PH 21 137 4.68e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178590
AA Change: V447A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: V447A

DomainStartEndE-ValueType
PH 21 136 1.77e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225008
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,592,103 (GRCm39) probably benign Het
Acadl A T 1: 66,896,712 (GRCm39) C27S probably benign Het
Adgrb3 C T 1: 25,598,931 (GRCm39) G258E probably damaging Het
Akna T C 4: 63,299,962 (GRCm39) probably null Het
Angpt2 T C 8: 18,791,233 (GRCm39) N21S probably benign Het
Ano6 A G 15: 95,847,447 (GRCm39) Y585C probably damaging Het
Ascc3 A T 10: 50,518,615 (GRCm39) probably benign Het
Clec10a T A 11: 70,060,567 (GRCm39) S103T possibly damaging Het
Clstn2 T C 9: 97,339,662 (GRCm39) R770G probably benign Het
Cndp2 C A 18: 84,696,916 (GRCm39) C95F possibly damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Col4a3 A T 1: 82,621,022 (GRCm39) probably benign Het
Daam1 A G 12: 72,022,085 (GRCm39) probably benign Het
H2-M9 A G 17: 36,953,484 (GRCm39) V18A probably benign Het
Heatr1 T A 13: 12,439,491 (GRCm39) probably benign Het
Impg1 T C 9: 80,221,675 (GRCm39) D715G probably benign Het
Incenp T C 19: 9,861,379 (GRCm39) K425E unknown Het
Kif13b T C 14: 65,013,681 (GRCm39) probably benign Het
Msh2 T A 17: 88,014,607 (GRCm39) probably null Het
Myh2 A G 11: 67,071,604 (GRCm39) N474D probably damaging Het
Myo18b T C 5: 112,978,185 (GRCm39) T1246A probably benign Het
Nob1 T C 8: 108,148,136 (GRCm39) H102R probably damaging Het
Or4z4 G T 19: 12,076,198 (GRCm39) D268E probably benign Het
Pard3b A T 1: 62,203,316 (GRCm39) I415F probably damaging Het
Pfkl T G 10: 77,829,250 (GRCm39) K386T possibly damaging Het
Poli C T 18: 70,650,574 (GRCm39) V266I probably benign Het
Rapgef4 A T 2: 71,861,449 (GRCm39) K46N possibly damaging Het
Shisa6 T C 11: 66,265,975 (GRCm39) probably benign Het
Six3 T A 17: 85,929,285 (GRCm39) D206E probably damaging Het
Slc12a1 A T 2: 125,060,158 (GRCm39) E944D possibly damaging Het
Sptb A G 12: 76,659,381 (GRCm39) F1173S probably damaging Het
Tfdp1 C A 8: 13,423,837 (GRCm39) probably benign Het
Trrap A G 5: 144,726,409 (GRCm39) probably benign Het
Wbp11 A G 6: 136,791,513 (GRCm39) probably benign Het
Other mutations in Plekhs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Plekhs1 APN 19 56,453,031 (GRCm39) critical splice donor site probably null
IGL01387:Plekhs1 APN 19 56,459,403 (GRCm39) missense probably benign 0.00
IGL02506:Plekhs1 APN 19 56,460,198 (GRCm39) missense probably damaging 1.00
FR4304:Plekhs1 UTSW 19 56,468,290 (GRCm39) unclassified probably benign
FR4340:Plekhs1 UTSW 19 56,468,290 (GRCm39) unclassified probably benign
FR4342:Plekhs1 UTSW 19 56,468,293 (GRCm39) unclassified probably benign
FR4342:Plekhs1 UTSW 19 56,468,290 (GRCm39) unclassified probably benign
FR4589:Plekhs1 UTSW 19 56,468,295 (GRCm39) unclassified probably benign
FR4737:Plekhs1 UTSW 19 56,468,295 (GRCm39) unclassified probably benign
IGL03052:Plekhs1 UTSW 19 56,459,189 (GRCm39) missense probably benign 0.43
R0023:Plekhs1 UTSW 19 56,466,948 (GRCm39) missense probably damaging 0.99
R0023:Plekhs1 UTSW 19 56,466,948 (GRCm39) missense probably damaging 0.99
R0100:Plekhs1 UTSW 19 56,466,934 (GRCm39) missense probably damaging 1.00
R0100:Plekhs1 UTSW 19 56,466,934 (GRCm39) missense probably damaging 1.00
R0129:Plekhs1 UTSW 19 56,465,722 (GRCm39) critical splice donor site probably null
R0498:Plekhs1 UTSW 19 56,469,536 (GRCm39) splice site probably null
R1528:Plekhs1 UTSW 19 56,468,427 (GRCm39) missense probably damaging 1.00
R1650:Plekhs1 UTSW 19 56,459,474 (GRCm39) missense probably damaging 1.00
R1820:Plekhs1 UTSW 19 56,466,954 (GRCm39) missense possibly damaging 0.48
R2884:Plekhs1 UTSW 19 56,459,258 (GRCm39) missense probably benign 0.01
R3237:Plekhs1 UTSW 19 56,453,032 (GRCm39) splice site probably null
R4395:Plekhs1 UTSW 19 56,468,326 (GRCm39) missense probably benign
R4825:Plekhs1 UTSW 19 56,461,700 (GRCm39) splice site probably null
R5484:Plekhs1 UTSW 19 56,468,260 (GRCm39) missense possibly damaging 0.82
R5511:Plekhs1 UTSW 19 56,474,224 (GRCm39) missense probably damaging 0.97
R7105:Plekhs1 UTSW 19 56,465,647 (GRCm39) missense probably damaging 0.99
R7267:Plekhs1 UTSW 19 56,459,209 (GRCm39) missense probably damaging 0.96
R8212:Plekhs1 UTSW 19 56,460,188 (GRCm39) missense probably damaging 1.00
R8458:Plekhs1 UTSW 19 56,465,590 (GRCm39) missense probably benign 0.36
R8905:Plekhs1 UTSW 19 56,471,028 (GRCm39) missense probably damaging 1.00
R8962:Plekhs1 UTSW 19 56,461,680 (GRCm39) missense possibly damaging 0.73
R9564:Plekhs1 UTSW 19 56,461,628 (GRCm39) missense probably damaging 1.00
RF025:Plekhs1 UTSW 19 56,468,290 (GRCm39) unclassified probably benign
RF043:Plekhs1 UTSW 19 56,468,290 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGGGTTTCCTTCAAGAACAGACGC -3'
(R):5'- ATGCAGCCTTGTCTCCAGTCACAC -3'

Sequencing Primer
(F):5'- gggaatggggagagaggg -3'
(R):5'- TTTTTGATGGCAGGGCTCCT -3'
Posted On 2014-01-29