Incidental Mutation 'R1650:Plekhs1'
ID 174213
Institutional Source Beutler Lab
Gene Symbol Plekhs1
Ensembl Gene ENSMUSG00000035818
Gene Name pleckstrin homology domain containing, family S member 1
Synonyms 9930023K05Rik
MMRRC Submission 039686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R1650 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56450072-56475184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56459474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 75 (G75C)
Ref Sequence ENSEMBL: ENSMUSP00000136674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590] [ENSMUST00000225909]
AlphaFold Q8BW88
Predicted Effect probably damaging
Transcript: ENSMUST00000039666
AA Change: G75C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: G75C

DomainStartEndE-ValueType
PH 21 137 4.68e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178590
AA Change: G75C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: G75C

DomainStartEndE-ValueType
PH 21 136 1.77e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224840
Predicted Effect possibly damaging
Transcript: ENSMUST00000225909
AA Change: G75C

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.0%
  • 20x: 83.4%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T G 2: 103,532,747 (GRCm39) V515G probably damaging Het
Ark2c A C 18: 77,550,113 (GRCm39) probably null Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Atp8b1 A G 18: 64,704,620 (GRCm39) probably benign Het
Bag4 T A 8: 26,267,452 (GRCm39) Q126L probably damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cenpn A G 8: 117,661,498 (GRCm39) D199G probably damaging Het
Cfhr3 A G 1: 139,521,564 (GRCm39) noncoding transcript Het
Clca3a2 T A 3: 144,797,973 (GRCm39) H164L probably damaging Het
Col5a1 C A 2: 27,812,171 (GRCm39) S84R unknown Het
Ctsc T A 7: 87,930,634 (GRCm39) L71* probably null Het
Cyp2c70 A G 19: 40,153,921 (GRCm39) Y223H probably benign Het
Dbt A G 3: 116,328,381 (GRCm39) probably null Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dll4 T C 2: 119,161,611 (GRCm39) S398P probably damaging Het
Dyrk4 T C 6: 126,876,792 (GRCm39) K62E probably benign Het
Fgf22 A T 10: 79,591,023 (GRCm39) Y24F probably damaging Het
Ggt5 A G 10: 75,440,595 (GRCm39) R239G probably benign Het
Gm11360 C T 13: 28,140,379 (GRCm39) A81V unknown Het
Htr5b T A 1: 121,455,891 (GRCm39) T10S probably benign Het
Igsf10 T C 3: 59,233,583 (GRCm39) R1717G probably damaging Het
Itsn2 T A 12: 4,687,767 (GRCm39) V556D probably damaging Het
Kdm3b T C 18: 34,942,168 (GRCm39) V553A possibly damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lca5l T C 16: 95,980,140 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,750,639 (GRCm39) W171R probably damaging Het
Lrp6 T C 6: 134,445,732 (GRCm39) Y1027C probably benign Het
Macf1 A T 4: 123,350,393 (GRCm39) Y1702* probably null Het
Mon2 T C 10: 122,831,682 (GRCm39) I1675V probably benign Het
Mtcl1 T A 17: 66,692,871 (GRCm39) K486M probably damaging Het
Nek1 A T 8: 61,489,110 (GRCm39) H338L probably benign Het
Ola1 A T 2: 72,987,238 (GRCm39) D131E possibly damaging Het
Olr1 T A 6: 129,484,052 (GRCm39) M7L probably benign Het
Or1f12 T C 13: 21,721,249 (GRCm39) N294D probably damaging Het
Or4k36 C T 2: 111,146,640 (GRCm39) A272V probably benign Het
Or5t18 A T 2: 86,637,091 (GRCm39) M84K possibly damaging Het
Or5w10 C A 2: 87,375,772 (GRCm39) V39L probably benign Het
Or7g27 T G 9: 19,249,943 (GRCm39) F62L possibly damaging Het
Or9m2 C T 2: 87,821,145 (GRCm39) A230V probably benign Het
Pan2 G A 10: 128,153,768 (GRCm39) E980K probably damaging Het
Pgm1 C A 4: 99,819,276 (GRCm39) Q149K probably benign Het
Pgm1 A G 4: 99,819,267 (GRCm39) K146E possibly damaging Het
Phlpp2 T C 8: 110,660,587 (GRCm39) probably benign Het
Plin4 G A 17: 56,411,931 (GRCm39) T700I probably damaging Het
Podxl2 G A 6: 88,826,901 (GRCm39) P71L probably benign Het
Pot1a A T 6: 25,745,964 (GRCm39) V579D probably damaging Het
Poteg A G 8: 27,953,813 (GRCm39) D318G probably benign Het
Ppp4r3a A T 12: 101,010,878 (GRCm39) D554E probably damaging Het
Proser3 G A 7: 30,239,751 (GRCm39) A451V probably damaging Het
Shld2 T A 14: 33,981,574 (GRCm39) probably benign Het
Strc T C 2: 121,211,366 (GRCm39) probably benign Het
Syce1 C A 7: 140,358,300 (GRCm39) C216F possibly damaging Het
Syne2 A T 12: 75,951,033 (GRCm39) K395* probably null Het
Trim28 G A 7: 12,764,776 (GRCm39) G831D possibly damaging Het
Tyw1 A G 5: 130,317,752 (GRCm39) I434V possibly damaging Het
Ubox5 G A 2: 130,442,345 (GRCm39) A114V probably benign Het
Ubqln3 C T 7: 103,790,228 (GRCm39) V621I possibly damaging Het
Unc79 A G 12: 103,079,052 (GRCm39) D1543G possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wrnip1 C A 13: 32,989,362 (GRCm39) H283Q probably benign Het
Zan A T 5: 137,392,863 (GRCm39) probably benign Het
Zcchc10 A T 11: 53,218,229 (GRCm39) K1* probably null Het
Zfp592 T A 7: 80,687,848 (GRCm39) S925T 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
R1264:Plekhs1 UTSW 19 56,474,195 (GRCm39) missense probably benign
R1528:Plekhs1 UTSW 19 56,468,427 (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'- TGCTCTTCTGAGCTTTAACTGAACTGC -3'
(R):5'- ACGAAGCTACAGATTTCATTGACCCAC -3'

Sequencing Primer
(F):5'- CTGAGCTTTAACTGAACTGCAAAAC -3'
(R):5'- GCTCTCTGTCACCAGGAAGTTAAG -3'
Posted On 2014-04-24