Incidental Mutation 'R0068:Plekhg1'
ID 16880
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 038359-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R0068 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 3690364-3917303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3890502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 386 (Y386F)
Ref Sequence ENSEMBL: ENSMUSP00000114056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000120274]
AlphaFold A0A5F8MPP0
Predicted Effect probably damaging
Transcript: ENSMUST00000042438
AA Change: Y386F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: Y386F

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 probably damaging
Transcript: ENSMUST00000120274
AA Change: Y386F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: Y386F

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 unknown
Transcript: ENSMUST00000136671
AA Change: Y441F
SMART Domains Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: Y441F

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 noncoding transcript
Transcript: ENSMUST00000137111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144543
Predicted Effect unknown
Transcript: ENSMUST00000154727
AA Change: Y240F
SMART Domains Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: Y240F

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 0.1021 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 97.6%
  • 10x: 82.1%
  • 20x: 74.0%
Validation Efficiency 94% (83/88)
Allele List at MGI

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

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Ankra2 C T 13: 98,409,891 (GRCm39) Q137* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Arvcf T C 16: 18,214,819 (GRCm39) probably benign Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Cbl A T 9: 44,065,491 (GRCm39) S22T probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cct3 A G 3: 88,225,772 (GRCm39) D365G probably benign Het
Cep85 A T 4: 133,881,606 (GRCm39) H332Q probably benign Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Exoc7 T C 11: 116,195,732 (GRCm39) Y83C probably damaging Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Gucy1b1 T C 3: 81,942,185 (GRCm39) T525A probably benign Het
Hhip T G 8: 80,715,885 (GRCm39) D557A probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Igsf10 A T 3: 59,238,045 (GRCm39) V712D probably damaging Het
Irf6 G T 1: 192,848,067 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Jag2 A G 12: 112,878,813 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Napb G A 2: 148,540,843 (GRCm39) probably benign Het
Nebl T A 2: 17,439,782 (GRCm39) R164* probably null Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Pmfbp1 G C 8: 110,269,011 (GRCm39) probably benign Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Polr1c A G 17: 46,555,829 (GRCm39) V200A probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Robo4 G A 9: 37,315,773 (GRCm39) R342Q probably benign Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
S100pbp T C 4: 129,038,249 (GRCm39) probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Slc39a12 A G 2: 14,440,489 (GRCm39) E480G probably benign Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tex9 A G 9: 72,394,051 (GRCm39) probably benign Het
Tifab A G 13: 56,324,218 (GRCm39) L75P probably damaging Het
Tmc5 T A 7: 118,233,460 (GRCm39) D91E probably benign Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I 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
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
R6930:Plekhg1 UTSW 10 3,913,770 (GRCm39) missense possibly damaging 0.56
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
Protein Function and Prediction

The function of Plekhg1 is unknown.

Plekhg1tm1a(EUCOMM)Wtsi/ tm1a(EUCOMM)Wtsi; MGI:4431598

Background: Not Specified

Homozygotes have decreased granulocyte number and decreased susceptibility to bacterial infection (Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project ).

Posted On 2013-01-20
Science Writer Anne Murray