Incidental Mutation 'R0787:Fgd4'
ID 76926
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 038967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0787 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16234774-16418400 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 16241765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069284] [ENSMUST00000161861] [ENSMUST00000162671]
AlphaFold Q91ZT5
Predicted Effect probably benign
Transcript: ENSMUST00000069284
SMART Domains Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788

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: ENSMUST00000161861
SMART Domains Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788

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
SMART Domains Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001F09Rik A T 14: 43,202,950 (GRCm39) probably null Het
Abca8a T A 11: 109,933,814 (GRCm39) Y1197F possibly damaging Het
Abcc2 T C 19: 43,786,955 (GRCm39) probably null Het
Adamts16 A T 13: 70,886,948 (GRCm39) C979S probably damaging Het
Agap2 T A 10: 126,921,019 (GRCm39) D523E unknown Het
Ankfy1 T A 11: 72,651,122 (GRCm39) I1024N probably damaging Het
Ankrd13c A G 3: 157,700,315 (GRCm39) S379G probably null Het
Arhgap40 T C 2: 158,389,710 (GRCm39) S625P probably benign Het
Armc12 G C 17: 28,757,740 (GRCm39) A291P probably damaging Het
Armc9 A G 1: 86,130,227 (GRCm39) N524D probably damaging Het
Col12a1 G T 9: 79,545,767 (GRCm39) T2305K probably damaging Het
Cyp2c54 T C 19: 40,036,079 (GRCm39) N277S probably benign Het
Czib T A 4: 107,747,326 (GRCm39) L6Q probably damaging Het
Dennd2b G T 7: 109,124,827 (GRCm39) R1068S possibly damaging Het
E130311K13Rik A T 3: 63,827,719 (GRCm39) V129E probably benign Het
Ehbp1l1 T C 19: 5,772,696 (GRCm39) D79G possibly damaging Het
Epb41l1 A G 2: 156,336,010 (GRCm39) E58G probably damaging Het
Fam217b T A 2: 178,062,702 (GRCm39) V222E probably benign Het
Fat1 T A 8: 45,493,592 (GRCm39) Y3913N probably damaging Het
Hltf A T 3: 20,160,610 (GRCm39) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Isg15 C T 4: 156,284,396 (GRCm39) R44H probably benign Het
Itga4 C T 2: 79,109,497 (GRCm39) T232I probably benign Het
Kntc1 C A 5: 123,934,167 (GRCm39) H1399Q probably benign Het
Lig1 A C 7: 13,032,995 (GRCm39) K499Q probably benign Het
Lrrn3 C A 12: 41,504,230 (GRCm39) C29F probably damaging Het
Mtmr10 T C 7: 63,950,363 (GRCm39) I136T possibly damaging Het
Naip1 A G 13: 100,562,604 (GRCm39) Y854H probably benign Het
Or6c201 T C 10: 128,969,395 (GRCm39) N81D possibly damaging Het
Pcdh9 G A 14: 94,124,193 (GRCm39) A659V possibly damaging Het
Phf20l1 T A 15: 66,487,479 (GRCm39) probably benign Het
Phgdh A G 3: 98,241,865 (GRCm39) V83A probably damaging Het
Pik3r1 A T 13: 101,827,031 (GRCm39) M326K probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd1l2 T C 8: 117,802,916 (GRCm39) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,392,660 (GRCm39) P1665Q probably damaging Het
Ppp1r7 A G 1: 93,292,678 (GRCm39) T326A probably damaging Het
Prr22 A T 17: 57,078,072 (GRCm39) Y75F possibly damaging Het
Ptov1 A C 7: 44,514,894 (GRCm39) probably null Het
Rasal2 A G 1: 156,986,266 (GRCm39) S766P probably damaging Het
Shmt1 T C 11: 60,683,802 (GRCm39) T337A probably benign Het
Tbc1d4 A T 14: 101,686,645 (GRCm39) I1168N probably damaging Het
Tecpr2 T C 12: 110,912,777 (GRCm39) V1126A probably benign Het
Tep1 A T 14: 51,066,687 (GRCm39) S2304T possibly damaging Het
Tiam1 C A 16: 89,586,449 (GRCm39) R1446M probably damaging Het
Tmem87a T C 2: 120,200,965 (GRCm39) I425V probably benign Het
Ubr3 T C 2: 69,781,765 (GRCm39) probably benign Het
Ubxn7 T A 16: 32,200,581 (GRCm39) probably benign Het
Vmn2r13 A G 5: 109,304,713 (GRCm39) S573P probably damaging Het
Wdfy3 A T 5: 102,105,254 (GRCm39) V191E probably damaging Het
Zdhhc3 A T 9: 122,912,688 (GRCm39) C153* probably null Het
Zfp407 A T 18: 84,227,147 (GRCm39) V2154D probably damaging Het
Zfp407 A G 18: 84,227,471 (GRCm39) V2046A probably benign Het
Zfr T A 15: 12,140,634 (GRCm39) I227N unknown 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
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
R2292:Fgd4 UTSW 16 16,253,864 (GRCm39) missense possibly damaging 0.95
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'- ACCCCAGGACTTATGGTGACTCC -3'
(R):5'- ACAATGAAAGCACTTACCTTGTCAATGC -3'

Sequencing Primer
(F):5'- GAACAGGGATATGACTTATCAAATGC -3'
(R):5'- tgctggtgtgaaaatatacatctc -3'
Posted On 2013-10-16