Incidental Mutation 'R4180:Plekhg4'
ID 319690
Institutional Source Beutler Lab
Gene Symbol Plekhg4
Ensembl Gene ENSMUSG00000014782
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Synonyms 4931414L13Rik
MMRRC Submission 041016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R4180 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106099906-106109494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106108030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1029 (V1029E)
Ref Sequence ENSEMBL: ENSMUSP00000014927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000167294] [ENSMUST00000214056] [ENSMUST00000168196]
AlphaFold A0A1L1SU27
Predicted Effect possibly damaging
Transcript: ENSMUST00000014927
AA Change: V1029E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: V1029E

DomainStartEndE-ValueType
low complexity region 364 377 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 701 718 N/A INTRINSIC
RhoGEF 729 900 3.15e-29 SMART
PH 914 1022 1.44e-5 SMART
low complexity region 1148 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063071
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 92 1.3e-9 PFAM
internal_repeat_1 173 251 8.34e-9 PROSPERO
internal_repeat_1 429 509 8.34e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000159286
SMART Domains Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

DomainStartEndE-ValueType
SCOP:d1aua_2 136 275 5e-9 SMART
Blast:SEC14 137 271 9e-8 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000160191
AA Change: V960E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: V960E

DomainStartEndE-ValueType
low complexity region 295 308 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
low complexity region 394 406 N/A INTRINSIC
low complexity region 466 478 N/A INTRINSIC
low complexity region 490 508 N/A INTRINSIC
low complexity region 584 595 N/A INTRINSIC
low complexity region 632 649 N/A INTRINSIC
RhoGEF 660 831 3.15e-29 SMART
PH 845 953 1.44e-5 SMART
low complexity region 1079 1100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161672
Predicted Effect probably benign
Transcript: ENSMUST00000167294
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 93 3.9e-10 PFAM
internal_repeat_1 173 251 6.24e-9 PROSPERO
internal_repeat_1 406 486 6.24e-9 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000214056
AA Change: V1065E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000168196
Meta Mutation Damage Score 0.2966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,331,590 (GRCm39) S1326P possibly damaging Het
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Klf4 C T 4: 55,530,884 (GRCm39) G26R possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Mafa T C 15: 75,619,413 (GRCm39) Y120C possibly damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Nub1 T C 5: 24,897,875 (GRCm39) I87T probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trbv4 A C 6: 41,036,646 (GRCm39) D57A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I probably benign Het
Other mutations in Plekhg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Plekhg4 APN 8 106,102,370 (GRCm39) missense probably benign 0.01
IGL00970:Plekhg4 APN 8 106,105,067 (GRCm39) missense probably benign 0.02
IGL01784:Plekhg4 APN 8 106,105,589 (GRCm39) missense probably damaging 1.00
IGL02063:Plekhg4 APN 8 106,105,884 (GRCm39) splice site probably benign
IGL02371:Plekhg4 APN 8 106,105,691 (GRCm39) splice site probably null
IGL02984:Plekhg4 UTSW 8 106,107,020 (GRCm39) missense probably damaging 1.00
R0013:Plekhg4 UTSW 8 106,102,028 (GRCm39) nonsense probably null
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0631:Plekhg4 UTSW 8 106,105,934 (GRCm39) missense probably damaging 1.00
R1078:Plekhg4 UTSW 8 106,108,309 (GRCm39) nonsense probably null
R1201:Plekhg4 UTSW 8 106,108,305 (GRCm39) missense probably damaging 1.00
R1222:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1418:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1459:Plekhg4 UTSW 8 106,108,431 (GRCm39) missense probably damaging 0.98
R1465:Plekhg4 UTSW 8 106,107,672 (GRCm39) splice site probably benign
R1558:Plekhg4 UTSW 8 106,108,467 (GRCm39) missense possibly damaging 0.73
R1637:Plekhg4 UTSW 8 106,108,413 (GRCm39) missense probably benign 0.08
R1757:Plekhg4 UTSW 8 106,108,293 (GRCm39) missense probably damaging 0.99
R1922:Plekhg4 UTSW 8 106,105,017 (GRCm39) missense probably damaging 1.00
R1961:Plekhg4 UTSW 8 106,108,096 (GRCm39) missense probably damaging 0.99
R2074:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2113:Plekhg4 UTSW 8 106,106,066 (GRCm39) missense probably damaging 1.00
R2124:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2196:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2321:Plekhg4 UTSW 8 106,104,172 (GRCm39) missense probably benign 0.00
R2432:Plekhg4 UTSW 8 106,108,468 (GRCm39) missense probably benign 0.00
R2908:Plekhg4 UTSW 8 106,107,493 (GRCm39) missense probably damaging 1.00
R2910:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R4179:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R4513:Plekhg4 UTSW 8 106,107,034 (GRCm39) missense probably damaging 1.00
R4678:Plekhg4 UTSW 8 106,107,003 (GRCm39) nonsense probably null
R4946:Plekhg4 UTSW 8 106,108,628 (GRCm39) missense probably null 0.01
R5223:Plekhg4 UTSW 8 106,105,581 (GRCm39) missense probably benign 0.18
R5362:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R5454:Plekhg4 UTSW 8 106,102,745 (GRCm39) critical splice donor site probably null
R5609:Plekhg4 UTSW 8 106,106,134 (GRCm39) critical splice donor site probably null
R5624:Plekhg4 UTSW 8 106,107,382 (GRCm39) missense probably damaging 0.99
R5806:Plekhg4 UTSW 8 106,105,542 (GRCm39) missense possibly damaging 0.85
R6297:Plekhg4 UTSW 8 106,104,472 (GRCm39) missense probably damaging 1.00
R7198:Plekhg4 UTSW 8 106,105,329 (GRCm39) missense probably damaging 1.00
R7443:Plekhg4 UTSW 8 106,107,499 (GRCm39) missense probably damaging 1.00
R7570:Plekhg4 UTSW 8 106,105,316 (GRCm39) missense possibly damaging 0.95
R7577:Plekhg4 UTSW 8 106,102,031 (GRCm39) missense probably benign
R7632:Plekhg4 UTSW 8 106,106,782 (GRCm39) missense probably damaging 1.00
R7782:Plekhg4 UTSW 8 106,104,399 (GRCm39) missense probably benign 0.14
R7958:Plekhg4 UTSW 8 106,103,281 (GRCm39) missense possibly damaging 0.86
R8239:Plekhg4 UTSW 8 106,107,546 (GRCm39) nonsense probably null
R8335:Plekhg4 UTSW 8 106,102,848 (GRCm39) missense probably damaging 0.97
R8411:Plekhg4 UTSW 8 106,103,961 (GRCm39) nonsense probably null
R9011:Plekhg4 UTSW 8 106,102,284 (GRCm39) missense probably benign 0.23
R9017:Plekhg4 UTSW 8 106,105,332 (GRCm39) missense possibly damaging 0.85
R9255:Plekhg4 UTSW 8 106,103,271 (GRCm39) missense probably benign 0.00
R9297:Plekhg4 UTSW 8 106,105,907 (GRCm39) missense probably damaging 1.00
R9391:Plekhg4 UTSW 8 106,106,043 (GRCm39) missense probably damaging 1.00
R9524:Plekhg4 UTSW 8 106,101,398 (GRCm39) missense unknown
R9613:Plekhg4 UTSW 8 106,107,620 (GRCm39) missense probably damaging 1.00
R9683:Plekhg4 UTSW 8 106,102,923 (GRCm39) missense probably benign 0.00
Z1177:Plekhg4 UTSW 8 106,101,474 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCTCGGGATATCAGAGGCTTAG -3'
(R):5'- CAAATGGGGCCACAGCAATG -3'

Sequencing Primer
(F):5'- TATGACACCTTTCCCAGG -3'
(R):5'- GCCCTAGAGCGAACATCTGTATAAG -3'
Posted On 2015-06-10