Incidental Mutation 'R4725:Plekha6'
ID 358378
Institutional Source Beutler Lab
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Name pleckstrin homology domain containing, family A member 6
Synonyms Pepp3
MMRRC Submission 041960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R4725 (G1)
Quality Score 192
Status Validated
Chromosome 1
Chromosomal Location 133091948-133231173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133211058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 625 (S625Y)
Ref Sequence ENSEMBL: ENSMUSP00000140558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285]
AlphaFold Q7TQG1
Predicted Effect probably damaging
Transcript: ENSMUST00000038295
AA Change: S699Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: S699Y

DomainStartEndE-ValueType
PH 60 160 2.23e-20 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
Blast:PH 506 576 6e-31 BLAST
coiled coil region 613 686 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 1139 1153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105082
AA Change: S645Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: S645Y

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186917
AA Change: S645Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: S645Y

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187285
AA Change: S625Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: S625Y

DomainStartEndE-ValueType
PH 60 160 9.6e-23 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
coiled coil region 539 612 N/A INTRINSIC
low complexity region 687 708 N/A INTRINSIC
low complexity region 1014 1028 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187299
Predicted Effect unknown
Transcript: ENSMUST00000189598
AA Change: S134Y
Predicted Effect unknown
Transcript: ENSMUST00000190186
AA Change: S476Y
Meta Mutation Damage Score 0.1035 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Ctdsp1 G A 1: 74,433,823 (GRCm39) V135I possibly damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Erbb2 A G 11: 98,315,970 (GRCm39) T358A possibly damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpat2 T C 2: 127,273,902 (GRCm39) V315A possibly damaging Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnab3 A G 11: 69,221,294 (GRCm39) N204D probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nudcd3 A T 11: 6,143,475 (GRCm39) V1D probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) probably benign Het
Other mutations in Plekha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Plekha6 APN 1 133,209,903 (GRCm39) missense possibly damaging 0.92
IGL01328:Plekha6 APN 1 133,200,074 (GRCm39) splice site probably null
IGL01739:Plekha6 APN 1 133,187,869 (GRCm39) missense probably benign 0.38
IGL01803:Plekha6 APN 1 133,200,152 (GRCm39) nonsense probably null
IGL02053:Plekha6 APN 1 133,200,230 (GRCm39) missense probably damaging 1.00
IGL02269:Plekha6 APN 1 133,215,587 (GRCm39) missense possibly damaging 0.82
IGL02276:Plekha6 APN 1 133,221,599 (GRCm39) missense possibly damaging 0.93
IGL02478:Plekha6 APN 1 133,211,031 (GRCm39) missense probably benign 0.03
IGL02754:Plekha6 APN 1 133,212,676 (GRCm39) missense probably damaging 0.98
G1Funyon:Plekha6 UTSW 1 133,192,425 (GRCm39) missense probably damaging 0.96
R0100:Plekha6 UTSW 1 133,197,915 (GRCm39) missense probably damaging 0.99
R0334:Plekha6 UTSW 1 133,209,918 (GRCm39) missense probably benign 0.24
R0470:Plekha6 UTSW 1 133,200,045 (GRCm39) missense probably benign 0.07
R1016:Plekha6 UTSW 1 133,187,832 (GRCm39) missense probably benign 0.00
R1254:Plekha6 UTSW 1 133,200,327 (GRCm39) missense probably benign 0.10
R1728:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1729:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1730:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1739:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1762:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1771:Plekha6 UTSW 1 133,201,651 (GRCm39) missense probably benign 0.00
R1783:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1784:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1785:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1786:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R1997:Plekha6 UTSW 1 133,191,556 (GRCm39) missense probably benign 0.43
R2020:Plekha6 UTSW 1 133,212,708 (GRCm39) missense possibly damaging 0.55
R2130:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2131:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2133:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2992:Plekha6 UTSW 1 133,222,396 (GRCm39) missense probably damaging 1.00
R3781:Plekha6 UTSW 1 133,222,393 (GRCm39) missense probably damaging 1.00
R3810:Plekha6 UTSW 1 133,201,717 (GRCm39) missense probably benign
R4067:Plekha6 UTSW 1 133,222,416 (GRCm39) missense probably benign 0.40
R5657:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5658:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5746:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5768:Plekha6 UTSW 1 133,208,116 (GRCm39) missense probably benign 0.01
R5785:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5892:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5937:Plekha6 UTSW 1 133,187,839 (GRCm39) missense possibly damaging 0.89
R5985:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5986:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6053:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6072:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6167:Plekha6 UTSW 1 133,207,145 (GRCm39) missense probably null 0.96
R6843:Plekha6 UTSW 1 133,202,616 (GRCm39) missense probably damaging 1.00
R6879:Plekha6 UTSW 1 133,187,793 (GRCm39) missense possibly damaging 0.95
R6912:Plekha6 UTSW 1 133,200,273 (GRCm39) missense probably benign 0.02
R6970:Plekha6 UTSW 1 133,191,556 (GRCm39) missense probably benign 0.43
R7041:Plekha6 UTSW 1 133,200,198 (GRCm39) missense possibly damaging 0.93
R7248:Plekha6 UTSW 1 133,203,586 (GRCm39) nonsense probably null
R7400:Plekha6 UTSW 1 133,201,762 (GRCm39) nonsense probably null
R7720:Plekha6 UTSW 1 133,221,445 (GRCm39) missense probably damaging 1.00
R7772:Plekha6 UTSW 1 133,097,760 (GRCm39) missense possibly damaging 0.57
R8011:Plekha6 UTSW 1 133,191,544 (GRCm39) missense probably benign
R8301:Plekha6 UTSW 1 133,192,425 (GRCm39) missense probably damaging 0.96
R8387:Plekha6 UTSW 1 133,219,893 (GRCm39) splice site probably null
R8465:Plekha6 UTSW 1 133,197,778 (GRCm39) missense probably damaging 0.98
R8501:Plekha6 UTSW 1 133,215,575 (GRCm39) missense probably benign 0.34
R9025:Plekha6 UTSW 1 133,212,999 (GRCm39) missense probably benign 0.01
R9044:Plekha6 UTSW 1 133,201,688 (GRCm39) missense possibly damaging 0.95
R9044:Plekha6 UTSW 1 133,201,687 (GRCm39) missense probably benign 0.01
R9165:Plekha6 UTSW 1 133,200,375 (GRCm39) missense probably damaging 1.00
R9179:Plekha6 UTSW 1 133,214,085 (GRCm39) missense possibly damaging 0.90
R9186:Plekha6 UTSW 1 133,220,171 (GRCm39) missense probably damaging 1.00
R9188:Plekha6 UTSW 1 133,220,171 (GRCm39) missense probably damaging 1.00
R9321:Plekha6 UTSW 1 133,209,549 (GRCm39) missense probably damaging 0.98
Z1176:Plekha6 UTSW 1 133,200,209 (GRCm39) missense probably damaging 0.98
Z1176:Plekha6 UTSW 1 133,191,551 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTTGCAGCAGTAGAAGGG -3'
(R):5'- CTGTCTCAAGACCAGATCCTTGTC -3'

Sequencing Primer
(F):5'- GCATCTGCATTCAGGAATCAG -3'
(R):5'- CAAGACCAGATCCTTGTCTTATATTG -3'
Posted On 2015-11-11