Incidental Mutation 'R2902:Fgd4'
ID 261530
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2902 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16234774-16418400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16243729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 602 (Y602H)
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: Y602H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: Y602H

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: Y602H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: Y602H

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: Y602H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: Y602H

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: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec2 T C 17: 48,730,409 (GRCm39) T86A probably benign Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cacng3 A G 7: 122,353,750 (GRCm39) K78R possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Chrm4 A G 2: 91,758,302 (GRCm39) K237E probably benign Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Cyp4f18 A T 8: 72,756,255 (GRCm39) I107N probably damaging Het
Dagla A G 19: 10,225,467 (GRCm39) L899P probably damaging Het
Dnah3 T C 7: 119,550,722 (GRCm39) K3199R possibly damaging Het
Ecpas G A 4: 58,809,691 (GRCm39) T1592M probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Fam186a G T 15: 99,843,049 (GRCm39) T1065K possibly damaging Het
Ferd3l T G 12: 33,978,952 (GRCm39) M155R probably damaging Het
Gldn T C 9: 54,243,098 (GRCm39) L360P possibly damaging Het
Gm9920 C A 15: 54,975,867 (GRCm39) probably benign Het
Inhbc T C 10: 127,193,621 (GRCm39) T132A probably benign Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lrch3 G A 16: 32,770,766 (GRCm39) A123T probably damaging Het
Mark2 A T 19: 7,260,813 (GRCm39) S408T probably benign Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Nod2 A T 8: 89,402,091 (GRCm39) I912F probably damaging Het
Nxpe4 A G 9: 48,305,446 (GRCm39) I279V probably benign Het
Oas3 A G 5: 120,896,982 (GRCm39) F880L probably damaging Het
Or5ak23 C T 2: 85,244,396 (GRCm39) V276M possibly damaging Het
Or6c6c A G 10: 129,541,320 (GRCm39) H191R probably benign Het
Or8c11 T A 9: 38,289,337 (GRCm39) N53K possibly damaging Het
Pcnt C T 10: 76,211,064 (GRCm39) R2371H probably damaging Het
Prex2 A T 1: 11,278,838 (GRCm39) N1389I possibly damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Prr12 C T 7: 44,697,036 (GRCm39) G960R unknown Het
Rap1b A G 10: 117,660,507 (GRCm39) S17P probably damaging Het
Rhot2 G T 17: 26,062,950 (GRCm39) Q63K probably damaging Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Slco1a6 A G 6: 142,042,046 (GRCm39) L510P probably damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Sv2a A T 3: 96,101,072 (GRCm39) N690I possibly damaging Het
Tbc1d24 T C 17: 24,426,220 (GRCm39) Y452C probably benign Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Tmem82 C A 4: 141,343,775 (GRCm39) G165V probably benign Het
Tpo T A 12: 30,169,448 (GRCm39) T96S possibly damaging Het
Triobp A G 15: 78,857,618 (GRCm39) E1073G possibly damaging Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Usp47 A G 7: 111,692,658 (GRCm39) Y1020C probably damaging Het
Washc4 C A 10: 83,390,627 (GRCm39) Y153* probably null 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
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'- CAAGTAAGGCACATTATTTGCATCC -3'
(R):5'- AAAGTGGTGCTCAGATTGTCAC -3'

Sequencing Primer
(F):5'- GGCACATTATTTGCATCCTTATGAC -3'
(R):5'- CTCAGATTGTCACAGACATTATTA -3'
Posted On 2015-01-23