Incidental Mutation 'R2292:Fgd4'
ID 245057
Institutional Source Beutler Lab
Gene Symbol Fgd4
Ensembl Gene ENSMUSG00000022788
Gene Name FYVE, RhoGEF and PH domain containing 4
Synonyms ZFYVE6, Frabin-alpha, Frabin-beta, 9330209B17Rik, Frabin, Frabin-gamma
MMRRC Submission 040291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2292 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16234774-16418400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16253864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 568 (C568S)
Ref Sequence ENSEMBL: ENSMUSP00000069573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069284] [ENSMUST00000161188] [ENSMUST00000161861] [ENSMUST00000162671]
AlphaFold Q91ZT5
Predicted Effect possibly damaging
Transcript: ENSMUST00000069284
AA Change: C568S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: C568S

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 523 1.91e-19 SMART
FYVE 551 620 2.2e-30 SMART
PH 644 742 1.31e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161188
AA Change: C568S

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123763
Gene: ENSMUSG00000022788
AA Change: C568S

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 523 1.91e-19 SMART
FYVE 551 603 1.94e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161861
AA Change: C568S

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: C568S

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 523 1.91e-19 SMART
FYVE 551 620 2.2e-30 SMART
PH 644 742 1.31e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162671
AA Change: C568S

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: C568S

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 523 1.91e-19 SMART
FYVE 551 620 2.2e-30 SMART
PH 644 742 1.31e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172181
SMART Domains Protein: ENSMUSP00000131870
Gene: ENSMUSG00000022788

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 523 1.91e-19 SMART
FYVE 551 603 1.94e-8 SMART
Meta Mutation Damage Score 0.9621 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages. [provided by MGI curators]
Allele List at MGI

All alleles(60) : Gene trapped(60)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,483 (GRCm39) I370T probably benign Het
A2m A G 6: 121,650,518 (GRCm39) T1209A possibly damaging Het
Als2 T C 1: 59,226,544 (GRCm39) Q920R probably damaging Het
Arhgap20 T A 9: 51,760,743 (GRCm39) Y829N possibly damaging Het
Arhgap35 A T 7: 16,297,476 (GRCm39) F530I probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Ascc2 T C 11: 4,629,352 (GRCm39) probably benign Het
Cacna1b C T 2: 24,496,632 (GRCm39) V2312I probably benign Het
Dctn6 T C 8: 34,559,679 (GRCm39) T159A probably benign Het
Ddx55 G T 5: 124,706,140 (GRCm39) A522S probably benign Het
Dnah6 G A 6: 72,998,092 (GRCm39) T4110I probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dym A G 18: 75,332,283 (GRCm39) T504A possibly damaging Het
E130308A19Rik T C 4: 59,690,579 (GRCm39) Y138H probably damaging Het
Fkbp4 A C 6: 128,413,625 (GRCm39) V6G probably damaging Het
Flg2 A T 3: 93,127,984 (GRCm39) S2299C unknown Het
Gdf2 A T 14: 33,667,145 (GRCm39) N289I possibly damaging Het
Gpr182 A G 10: 127,586,051 (GRCm39) I300T possibly damaging Het
Iqcg A G 16: 32,870,253 (GRCm39) V80A probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lyst T G 13: 13,915,080 (GRCm39) F3258C probably damaging Het
Map3k12 T C 15: 102,408,574 (GRCm39) E870G probably damaging Het
Mphosph10 G A 7: 64,035,519 (GRCm39) P384L probably damaging Het
Ncoa4 T G 14: 31,895,413 (GRCm39) L179R probably damaging Het
Nlrp1c-ps A G 11: 71,137,188 (GRCm39) noncoding transcript Het
Nwd2 A T 5: 63,962,917 (GRCm39) M834L probably benign Het
Or10a49 A T 7: 108,468,223 (GRCm39) M46K probably benign Het
Or2w6 A G 13: 21,843,001 (GRCm39) M164T probably damaging Het
Pccb T C 9: 100,876,685 (GRCm39) E266G probably benign Het
Pcdhb2 T A 18: 37,430,297 (GRCm39) probably null Het
Pramel25 T C 4: 143,520,446 (GRCm39) I66T probably benign Het
Prdm13 A C 4: 21,683,914 (GRCm39) I119S unknown Het
Tchh A G 3: 93,349,689 (GRCm39) Y18C probably damaging Het
Tmem192 T C 8: 65,411,998 (GRCm39) V59A probably damaging Het
Trak2 A T 1: 58,974,916 (GRCm39) F92Y probably damaging Het
Trappc11 C T 8: 47,958,771 (GRCm39) G40D probably damaging Het
Ttc23 A T 7: 67,319,535 (GRCm39) I132F probably benign Het
Ttc9b A G 7: 27,355,405 (GRCm39) D225G probably benign Het
Ubr3 G T 2: 69,727,604 (GRCm39) probably benign Het
Vmn2r75 A C 7: 85,798,144 (GRCm39) C556W probably damaging Het
Zbtb41 T C 1: 139,368,097 (GRCm39) V595A probably damaging Het
Other mutations in Fgd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Fgd4 APN 16 16,302,167 (GRCm39) missense probably damaging 0.99
IGL01455:Fgd4 APN 16 16,308,354 (GRCm39) missense probably benign 0.22
IGL02035:Fgd4 APN 16 16,308,280 (GRCm39) splice site probably benign
IGL02353:Fgd4 APN 16 16,279,909 (GRCm39) missense probably damaging 0.96
IGL02360:Fgd4 APN 16 16,279,909 (GRCm39) missense probably damaging 0.96
IGL03100:Fgd4 APN 16 16,295,383 (GRCm39) splice site probably benign
11287:Fgd4 UTSW 16 16,241,787 (GRCm39) missense probably damaging 1.00
R0787:Fgd4 UTSW 16 16,241,765 (GRCm39) splice site probably benign
R0853:Fgd4 UTSW 16 16,292,251 (GRCm39) splice site probably benign
R0879:Fgd4 UTSW 16 16,295,313 (GRCm39) missense probably damaging 1.00
R1482:Fgd4 UTSW 16 16,302,337 (GRCm39) missense probably benign 0.39
R1619:Fgd4 UTSW 16 16,241,920 (GRCm39) missense possibly damaging 0.52
R1635:Fgd4 UTSW 16 16,292,893 (GRCm39) nonsense probably null
R2018:Fgd4 UTSW 16 16,253,824 (GRCm39) missense probably benign 0.15
R2120:Fgd4 UTSW 16 16,243,692 (GRCm39) missense probably benign 0.44
R2902:Fgd4 UTSW 16 16,243,729 (GRCm39) missense probably damaging 1.00
R4575:Fgd4 UTSW 16 16,254,896 (GRCm39) missense probably damaging 1.00
R4747:Fgd4 UTSW 16 16,241,793 (GRCm39) missense probably damaging 1.00
R4941:Fgd4 UTSW 16 16,302,402 (GRCm39) missense probably benign
R5196:Fgd4 UTSW 16 16,302,006 (GRCm39) missense probably benign 0.01
R5372:Fgd4 UTSW 16 16,302,155 (GRCm39) missense probably benign 0.03
R5457:Fgd4 UTSW 16 16,279,873 (GRCm39) missense probably benign 0.39
R5486:Fgd4 UTSW 16 16,292,901 (GRCm39) missense probably damaging 1.00
R6709:Fgd4 UTSW 16 16,302,345 (GRCm39) missense probably benign 0.09
R6962:Fgd4 UTSW 16 16,301,951 (GRCm39) splice site probably null
R7207:Fgd4 UTSW 16 16,302,420 (GRCm39) missense probably benign 0.11
R7732:Fgd4 UTSW 16 16,302,459 (GRCm39) missense probably benign
R7749:Fgd4 UTSW 16 16,293,018 (GRCm39) missense probably benign 0.02
R7846:Fgd4 UTSW 16 16,240,590 (GRCm39) missense probably damaging 1.00
R7937:Fgd4 UTSW 16 16,287,637 (GRCm39) missense probably damaging 1.00
R8517:Fgd4 UTSW 16 16,240,509 (GRCm39) missense probably benign 0.04
R8755:Fgd4 UTSW 16 16,302,133 (GRCm39) missense probably benign 0.00
R9015:Fgd4 UTSW 16 16,271,941 (GRCm39) missense probably damaging 1.00
R9055:Fgd4 UTSW 16 16,240,494 (GRCm39) missense possibly damaging 0.54
R9259:Fgd4 UTSW 16 16,295,325 (GRCm39) missense probably damaging 1.00
R9364:Fgd4 UTSW 16 16,308,353 (GRCm39) missense probably benign 0.08
R9554:Fgd4 UTSW 16 16,308,353 (GRCm39) missense probably benign 0.08
R9653:Fgd4 UTSW 16 16,254,461 (GRCm39) missense probably benign
R9682:Fgd4 UTSW 16 16,302,202 (GRCm39) missense probably benign
Z1088:Fgd4 UTSW 16 16,302,334 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTAAGCAAATATTACTCTCCTGCAC -3'
(R):5'- GAGATCAGAACATGGTTTGAACAAC -3'

Sequencing Primer
(F):5'- CTTCATGGGGCAGCACAATACTTTG -3'
(R):5'- TGAGTTCCAGTACTGCCAAG -3'
Posted On 2014-10-30