Incidental Mutation 'R6930:Plekhg1'
ID 539960
Institutional Source Beutler Lab
Gene Symbol Plekhg1
Ensembl Gene ENSMUSG00000040624
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Synonyms D10Ertd733e
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 3690364-3917303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3913770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1164 (H1164R)
Ref Sequence ENSEMBL: ENSMUSP00000114056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000120274]
AlphaFold A0A5F8MPP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000042438
AA Change: H1164R

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: H1164R

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120274
AA Change: H1164R

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: H1164R

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: H1219R

DomainStartEndE-ValueType
low complexity region 67 86 N/A INTRINSIC
RhoGEF 172 347 4.17e-52 SMART
PH 379 473 2.54e-6 SMART
low complexity region 475 487 N/A INTRINSIC
low complexity region 1207 1218 N/A INTRINSIC
low complexity region 1242 1253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141367
Predicted Effect
SMART Domains Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: H1018R

DomainStartEndE-ValueType
RhoGEF 4 146 2.25e-25 SMART
PH 178 272 2.54e-6 SMART
low complexity region 274 286 N/A INTRINSIC
low complexity region 1006 1017 N/A INTRINSIC
low complexity region 1041 1052 N/A INTRINSIC
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
Allele List at MGI

All alleles(13) : Targeted(2) Gene trapped(11)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Flg2 T A 3: 93,108,642 (GRCm39) Y223* probably null Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gimap9 G A 6: 48,654,601 (GRCm39) D53N probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lpin2 T C 17: 71,551,786 (GRCm39) Y729H probably damaging Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Or7e178 A G 9: 20,225,395 (GRCm39) Y266H probably damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Zic2 A T 14: 122,713,869 (GRCm39) D261V probably damaging Het
Other mutations in Plekhg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Plekhg1 APN 10 3,913,631 (GRCm39) missense probably benign 0.02
IGL01639:Plekhg1 APN 10 3,906,751 (GRCm39) missense probably damaging 0.98
IGL01766:Plekhg1 APN 10 3,823,400 (GRCm39) missense probably damaging 1.00
IGL01983:Plekhg1 APN 10 3,895,904 (GRCm39) missense probably damaging 1.00
IGL02226:Plekhg1 APN 10 3,895,916 (GRCm39) missense probably damaging 0.99
IGL02420:Plekhg1 APN 10 3,914,106 (GRCm39) missense probably damaging 1.00
IGL02441:Plekhg1 APN 10 3,908,103 (GRCm39) missense possibly damaging 0.89
IGL02505:Plekhg1 APN 10 3,907,139 (GRCm39) missense probably damaging 0.97
IGL02659:Plekhg1 APN 10 3,907,069 (GRCm39) nonsense probably null
IGL02730:Plekhg1 APN 10 3,823,242 (GRCm39) missense possibly damaging 0.59
BB006:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
BB016:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
PIT4453001:Plekhg1 UTSW 10 3,913,469 (GRCm39) missense
R0041:Plekhg1 UTSW 10 3,914,076 (GRCm39) nonsense probably null
R0041:Plekhg1 UTSW 10 3,914,074 (GRCm39) missense probably benign 0.02
R0068:Plekhg1 UTSW 10 3,890,504 (GRCm39) nonsense probably null
R0068:Plekhg1 UTSW 10 3,890,502 (GRCm39) missense probably damaging 0.99
R0333:Plekhg1 UTSW 10 3,914,419 (GRCm39) missense probably damaging 1.00
R0427:Plekhg1 UTSW 10 3,914,235 (GRCm39) missense probably benign 0.01
R0499:Plekhg1 UTSW 10 3,887,971 (GRCm39) missense probably damaging 1.00
R0504:Plekhg1 UTSW 10 3,887,853 (GRCm39) missense probably damaging 1.00
R1499:Plekhg1 UTSW 10 3,890,538 (GRCm39) splice site probably benign
R1501:Plekhg1 UTSW 10 3,907,361 (GRCm39) missense probably benign 0.02
R1565:Plekhg1 UTSW 10 3,890,526 (GRCm39) missense probably damaging 1.00
R1801:Plekhg1 UTSW 10 3,913,904 (GRCm39) missense probably damaging 1.00
R1823:Plekhg1 UTSW 10 3,853,658 (GRCm39) critical splice donor site probably null
R1858:Plekhg1 UTSW 10 3,895,917 (GRCm39) missense possibly damaging 0.95
R1984:Plekhg1 UTSW 10 3,908,181 (GRCm39) missense probably damaging 1.00
R2420:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2421:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2422:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2437:Plekhg1 UTSW 10 3,913,564 (GRCm39) missense probably damaging 1.00
R2872:Plekhg1 UTSW 10 3,913,982 (GRCm39) missense probably benign
R2872:Plekhg1 UTSW 10 3,913,982 (GRCm39) missense probably benign
R3830:Plekhg1 UTSW 10 3,823,400 (GRCm39) missense probably damaging 1.00
R4058:Plekhg1 UTSW 10 3,907,087 (GRCm39) missense probably damaging 1.00
R4059:Plekhg1 UTSW 10 3,907,087 (GRCm39) missense probably damaging 1.00
R4649:Plekhg1 UTSW 10 3,906,985 (GRCm39) missense probably benign 0.00
R4731:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4732:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4733:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4772:Plekhg1 UTSW 10 3,823,130 (GRCm39) missense probably damaging 1.00
R4772:Plekhg1 UTSW 10 3,823,127 (GRCm39) missense probably benign 0.00
R4803:Plekhg1 UTSW 10 3,907,186 (GRCm39) missense probably benign 0.02
R5086:Plekhg1 UTSW 10 3,853,649 (GRCm39) missense probably damaging 1.00
R5175:Plekhg1 UTSW 10 3,915,516 (GRCm39) unclassified probably benign
R5283:Plekhg1 UTSW 10 3,906,654 (GRCm39) missense probably benign 0.00
R5862:Plekhg1 UTSW 10 3,887,914 (GRCm39) missense probably damaging 1.00
R6163:Plekhg1 UTSW 10 3,914,369 (GRCm39) missense probably damaging 1.00
R6564:Plekhg1 UTSW 10 3,914,153 (GRCm39) missense probably damaging 1.00
R6700:Plekhg1 UTSW 10 3,907,373 (GRCm39) missense probably benign
R7033:Plekhg1 UTSW 10 3,890,251 (GRCm39) missense probably damaging 0.97
R7200:Plekhg1 UTSW 10 3,906,810 (GRCm39) missense
R7223:Plekhg1 UTSW 10 3,823,343 (GRCm39) missense
R7353:Plekhg1 UTSW 10 3,914,327 (GRCm39) missense
R7488:Plekhg1 UTSW 10 3,907,491 (GRCm39) missense
R7554:Plekhg1 UTSW 10 3,913,647 (GRCm39) missense
R7929:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
R8014:Plekhg1 UTSW 10 3,907,758 (GRCm39) missense
R8104:Plekhg1 UTSW 10 3,902,326 (GRCm39) missense
R8167:Plekhg1 UTSW 10 3,907,453 (GRCm39) missense
R8167:Plekhg1 UTSW 10 3,907,452 (GRCm39) missense
R8215:Plekhg1 UTSW 10 3,907,521 (GRCm39) missense
R8263:Plekhg1 UTSW 10 3,907,651 (GRCm39) missense
R8682:Plekhg1 UTSW 10 3,897,523 (GRCm39) missense
R8746:Plekhg1 UTSW 10 3,907,777 (GRCm39) missense
R9148:Plekhg1 UTSW 10 3,907,527 (GRCm39) missense
R9220:Plekhg1 UTSW 10 3,913,805 (GRCm39) missense
R9245:Plekhg1 UTSW 10 3,907,141 (GRCm39) missense
R9520:Plekhg1 UTSW 10 3,906,822 (GRCm39) missense
R9778:Plekhg1 UTSW 10 3,887,966 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CAGATTTCTCTCCCCAGACAG -3'
(R):5'- ATGAGTTTGCTAGCCCTGACG -3'

Sequencing Primer
(F):5'- GATTTCTCTCCCCAGACAGAACAAG -3'
(R):5'- AAATCCTGCTGGCTCGC -3'
Posted On 2018-11-06