Incidental Mutation 'R6970:Plekha6'
ID 542149
Institutional Source Beutler Lab
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Name pleckstrin homology domain containing, family A member 6
Synonyms Pepp3
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 133091948-133231173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133191556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 146 (A146T)
Ref Sequence ENSEMBL: ENSMUSP00000148746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285] [ENSMUST00000212252]
AlphaFold Q7TQG1
Predicted Effect probably benign
Transcript: ENSMUST00000038295
AA Change: A42T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: A42T

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 benign
Transcript: ENSMUST00000105082
AA Change: A42T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: A42T

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 benign
Transcript: ENSMUST00000186917
AA Change: A42T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: A42T

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 benign
Transcript: ENSMUST00000187285
AA Change: A42T

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: A42T

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 noncoding transcript
Transcript: ENSMUST00000191207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212142
Predicted Effect probably benign
Transcript: ENSMUST00000212252
AA Change: A146T

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Atp8a1 A G 5: 67,895,805 (GRCm39) V543A probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx20 A T 3: 105,587,674 (GRCm39) L434H probably damaging Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm10 T G 9: 31,241,119 (GRCm39) Y302* probably null Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,687,000 (GRCm39) D630E probably damaging Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K probably damaging 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
R4725:Plekha6 UTSW 1 133,211,058 (GRCm39) missense probably damaging 1.00
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
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'- ACGCCTTTGAGTTAGCAGAG -3'
(R):5'- TTGGAAGACATTCATAGACAACAGG -3'

Sequencing Primer
(F):5'- CCTTTGAGTTAGCAGAGACTCAAAGC -3'
(R):5'- AACCTACCAAAGAGTGCTTGG -3'
Posted On 2018-11-28