Incidental Mutation 'R5486:Fgd4'
ID 430387
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 043047-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5486 (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 T at 16292901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 272 (L272Q)
Ref Sequence ENSEMBL: ENSMUSP00000125736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069284] [ENSMUST00000159542] [ENSMUST00000161188] [ENSMUST00000161861] [ENSMUST00000162671]
AlphaFold Q91ZT5
Predicted Effect probably damaging
Transcript: ENSMUST00000069284
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: L272Q

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: ENSMUST00000159058
Predicted Effect probably damaging
Transcript: ENSMUST00000159542
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125649
Gene: ENSMUSG00000022788
AA Change: L272Q

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161188
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123763
Gene: ENSMUSG00000022788
AA Change: L272Q

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 damaging
Transcript: ENSMUST00000161861
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: L272Q

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: ENSMUST00000162045
SMART Domains Protein: ENSMUSP00000125435
Gene: ENSMUSG00000022788

DomainStartEndE-ValueType
RhoGEF 210 392 1.48e-57 SMART
PH 423 504 2.36e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162671
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: L272Q

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: ENSMUST00000162124
SMART Domains Protein: ENSMUSP00000125165
Gene: ENSMUSG00000022788

DomainStartEndE-ValueType
RhoGEF 166 348 1.48e-57 SMART
PH 379 460 2.36e-1 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
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik G T 10: 115,415,810 (GRCm39) probably benign Het
Acad8 A T 9: 26,910,791 (GRCm39) M1K probably null Het
Adam12 C A 7: 133,509,401 (GRCm39) R786S possibly damaging Het
Add3 G A 19: 53,232,818 (GRCm39) V604I probably benign Het
Alpk2 A T 18: 65,427,425 (GRCm39) probably null Het
Ano3 T C 2: 110,576,215 (GRCm39) D102G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
Bod1l A T 5: 41,964,524 (GRCm39) D2693E possibly damaging Het
Ccdc7a T C 8: 129,711,884 (GRCm39) N284D probably damaging Het
Clic6 A G 16: 92,326,740 (GRCm39) probably null Het
Cln5 T C 14: 103,313,630 (GRCm39) I294T probably damaging Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Cyp2d9 T A 15: 82,336,779 (GRCm39) W43R probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Erlec1 A T 11: 30,885,047 (GRCm39) H413Q probably damaging Het
Fam168a T A 7: 100,483,376 (GRCm39) M203K probably damaging Het
Fat2 A T 11: 55,144,507 (GRCm39) S4122R probably benign Het
Hpcal4 A G 4: 123,084,557 (GRCm39) K162R probably benign Het
Iars1 T A 13: 49,863,049 (GRCm39) probably null Het
Lbr A G 1: 181,646,403 (GRCm39) probably null Het
Lrp2 T C 2: 69,267,809 (GRCm39) I4259V probably benign Het
Mcm3 C T 1: 20,885,118 (GRCm39) G189S probably damaging Het
Nr1d2 A G 14: 18,206,860 (GRCm38) V137A possibly damaging Het
Or52d1 C A 7: 103,755,705 (GRCm39) T73N probably damaging Het
Or52n3 T A 7: 104,530,168 (GRCm39) C85S probably benign Het
Or7g33 A G 9: 19,448,590 (GRCm39) V212A probably benign Het
Pim3 T C 15: 88,747,425 (GRCm39) V97A possibly damaging Het
Piwil2 T C 14: 70,638,880 (GRCm39) N479S probably benign Het
Pld3 C A 7: 27,233,156 (GRCm39) W365L probably damaging Het
Plk3 C A 4: 116,987,600 (GRCm39) E412* probably null Het
Psmd1 A G 1: 86,064,772 (GRCm39) I935V possibly damaging Het
Sh2b2 A G 5: 136,260,944 (GRCm39) S91P probably benign Het
Skor2 A G 18: 76,946,395 (GRCm39) N39S unknown Het
Slc22a22 A G 15: 57,126,847 (GRCm39) V55A probably damaging Het
Smg7 A G 1: 152,721,927 (GRCm39) S595P probably damaging Het
Snrnp200 C T 2: 127,074,986 (GRCm39) P1520S possibly damaging Het
Taar7a T A 10: 23,868,356 (GRCm39) T342S probably benign Het
Tecpr2 A T 12: 110,899,449 (GRCm39) I606F probably benign Het
Tex19.2 A T 11: 121,008,304 (GRCm39) M48K probably benign Het
Thoc1 A G 18: 9,992,204 (GRCm39) T511A probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Ubr5 C A 15: 38,008,983 (GRCm39) A1077S probably benign Het
Wdr95 A T 5: 149,519,795 (GRCm39) R571* 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
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
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'- CACAGAAGCAAATTTCATCTGGG -3'
(R):5'- GCCAGCATGGTGAAAACTGG -3'

Sequencing Primer
(F):5'- TTCATCTGGGGCAAAACATGAAC -3'
(R):5'- CATGGTGAAAACTGGTTAGCCCAC -3'
Posted On 2016-10-05