Incidental Mutation 'R0334:Plekha6'
ID 26081
Institutional Source Beutler Lab
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Name pleckstrin homology domain containing, family A member 6
Synonyms Pepp3
MMRRC Submission 038543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0334 (G1)
Quality Score 206
Status Validated
Chromosome 1
Chromosomal Location 133091948-133231173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133209918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 654 (A654S)
Ref Sequence ENSEMBL: ENSMUSP00000048214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285]
AlphaFold Q7TQG1
Predicted Effect probably benign
Transcript: ENSMUST00000038295
AA Change: A654S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: A654S

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: A600S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: A600S

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: A600S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: A600S

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: A580S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: A580S

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: A89S
Predicted Effect unknown
Transcript: ENSMUST00000190186
AA Change: A431S
Meta Mutation Damage Score 0.0674 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,508,105 (GRCm39) N87S probably benign Het
Ap2b1 T C 11: 83,258,700 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,468,029 (GRCm39) Y1724H probably damaging Het
Arhgef10l G A 4: 140,311,237 (GRCm39) Q243* probably null Het
Atp8a2 A T 14: 59,928,961 (GRCm39) F1031Y probably damaging Het
Bmp8b A G 4: 123,008,553 (GRCm39) probably null Het
Brinp2 G T 1: 158,123,155 (GRCm39) T37K probably benign Het
Bsph1 T A 7: 13,184,864 (GRCm39) L9* probably null Het
C6 T G 15: 4,784,849 (GRCm39) N238K probably benign Het
Cbs T C 17: 31,838,130 (GRCm39) D373G probably damaging Het
Clec4a3 T C 6: 122,946,329 (GRCm39) F191S possibly damaging Het
Cpz A G 5: 35,661,025 (GRCm39) V530A probably damaging Het
Ctsc G T 7: 87,927,550 (GRCm39) S47I possibly damaging Het
Cyp7b1 T G 3: 18,157,960 (GRCm39) Y53S probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb4 T C 8: 19,251,220 (GRCm39) I29T probably benign Het
Disc1 A T 8: 125,987,836 (GRCm39) probably null Het
Dnah2 A G 11: 69,327,662 (GRCm39) M3429T probably damaging Het
Dnah7a A T 1: 53,472,213 (GRCm39) I3518N possibly damaging Het
Dnah8 A T 17: 31,090,325 (GRCm39) H4609L probably damaging Het
Evi5 C A 5: 107,968,401 (GRCm39) C182F probably damaging Het
Fam149b G A 14: 20,413,492 (GRCm39) R237H probably damaging Het
Fut8 T A 12: 77,440,536 (GRCm39) D174E possibly damaging Het
Ghr T C 15: 3,370,580 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gpr176 T C 2: 118,110,189 (GRCm39) S357G probably benign Het
Grwd1 A T 7: 45,476,601 (GRCm39) probably null Het
H2-T24 A G 17: 36,325,772 (GRCm39) V273A possibly damaging Het
Hdac4 A C 1: 91,883,760 (GRCm39) probably benign Het
Herc3 A G 6: 58,895,802 (GRCm39) T1017A probably damaging Het
Hsd11b1 T C 1: 192,924,476 (GRCm39) probably benign Het
Igsf23 T C 7: 19,675,678 (GRCm39) S143G probably benign Het
Kbtbd12 T A 6: 88,594,888 (GRCm39) Y314F probably damaging Het
Kcnmb2 A G 3: 32,252,508 (GRCm39) probably null Het
Kdm5b A G 1: 134,532,260 (GRCm39) I479M probably damaging Het
Kidins220 A G 12: 25,058,068 (GRCm39) T600A probably damaging Het
Mrgprb2 A C 7: 48,202,077 (GRCm39) I216S probably damaging Het
Muc21 A G 17: 35,933,614 (GRCm39) probably benign Het
Myo1g A G 11: 6,461,084 (GRCm39) probably benign Het
Nrxn3 T C 12: 89,780,412 (GRCm39) probably null Het
Or2ag2 A G 7: 106,485,622 (GRCm39) V134A probably benign Het
Or8b54 A T 9: 38,686,535 (GRCm39) probably null Het
Or8g26 A G 9: 39,095,980 (GRCm39) I169V probably benign Het
Pdia5 A T 16: 35,284,760 (GRCm39) S66T possibly damaging Het
Plec T C 15: 76,062,206 (GRCm39) E2604G probably damaging Het
Pnpla2 G A 7: 141,039,433 (GRCm39) probably null Het
Pramel19 T C 4: 101,798,781 (GRCm39) F251L probably benign Het
Prb1c T A 6: 132,341,021 (GRCm39) Q17L unknown Het
Prkdc A G 16: 15,554,663 (GRCm39) D2128G probably benign Het
Rabggta A T 14: 55,958,268 (GRCm39) L131Q probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Rnf139 A G 15: 58,771,322 (GRCm39) Y449C probably damaging Het
Sanbr A G 11: 23,567,129 (GRCm39) probably benign Het
Sbno1 A G 5: 124,524,931 (GRCm39) V1058A possibly damaging Het
Sema3a A T 5: 13,607,268 (GRCm39) N321I probably damaging Het
Slit3 T A 11: 35,469,928 (GRCm39) V310E probably damaging Het
Slitrk5 T C 14: 111,918,256 (GRCm39) S627P probably benign Het
Stat2 T A 10: 128,113,736 (GRCm39) F172I probably damaging Het
Tchh C A 3: 93,352,923 (GRCm39) R788S unknown Het
Tnks T A 8: 35,320,413 (GRCm39) K753* probably null Het
Trank1 T A 9: 111,194,421 (GRCm39) V815D probably benign Het
Trank1 T A 9: 111,222,008 (GRCm39) I2915N probably damaging Het
Trpc6 T C 9: 8,610,344 (GRCm39) S271P probably damaging Het
Trpm5 T C 7: 142,640,613 (GRCm39) Q213R probably benign Het
Ulk3 C T 9: 57,501,510 (GRCm39) probably benign Het
Usp31 T C 7: 121,258,185 (GRCm39) D694G probably damaging Het
Wnt3a A G 11: 59,147,144 (GRCm39) S181P probably damaging Het
Yipf3 T C 17: 46,559,238 (GRCm39) F22S possibly damaging Het
Zbtb40 A T 4: 136,713,867 (GRCm39) H1094Q 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
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
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'- ACAAAGCTGGTGGGTCTTTGTCTTC -3'
(R):5'- ATGAGCATACTCGCTCGCTCTCTG -3'

Sequencing Primer
(F):5'- TGTCTCCCAGGGACAGTAATC -3'
(R):5'- CCACCCGGATGTTGATAAGT -3'
Posted On 2013-04-16