Incidental Mutation 'R4747:Fgd4'
ID 357225
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 042029-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16234774-16418400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16241793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 677 (Y677C)
Ref Sequence ENSEMBL: ENSMUSP00000125736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069284] [ENSMUST00000161861] [ENSMUST00000162671]
AlphaFold Q91ZT5
Predicted Effect probably damaging
Transcript: ENSMUST00000069284
AA Change: Y677C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: Y677C

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 damaging
Transcript: ENSMUST00000161861
AA Change: Y677C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: Y677C

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 damaging
Transcript: ENSMUST00000162671
AA Change: Y677C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: Y677C

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign 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
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
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'- ACCCCAGGACTTATGGTGAC -3'
(R):5'- AGGCATGTTTCATCCCCATTTG -3'

Sequencing Primer
(F):5'- AGGACTTATGGTGACTCCTTTC -3'
(R):5'- GTTTCATCCCCATTTGATTCATTGTG -3'
Posted On 2015-11-11