Incidental Mutation 'R1577:Fgd3'
ID 171239
Institutional Source Beutler Lab
Gene Symbol Fgd3
Ensembl Gene ENSMUSG00000037946
Gene Name FYVE, RhoGEF and PH domain containing 3
Synonyms ZFYVE5, 5830461L01Rik
MMRRC Submission 039615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1577 (G1)
Quality Score 102
Status Not validated
Chromosome 13
Chromosomal Location 49415030-49473783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49435413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 282 (N282D)
Ref Sequence ENSEMBL: ENSMUSP00000105714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110086] [ENSMUST00000110087]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048716
AA Change: N282D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: N282D

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
FYVE 520 585 1.78e-7 SMART
PH 613 713 2.81e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110086
AA Change: N282D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: N282D

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110087
AA Change: N282D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: N282D

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
FYVE 520 585 1.78e-7 SMART
PH 613 713 2.81e-8 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,264 (GRCm39) N404S possibly damaging Het
Cep85 T C 4: 133,879,599 (GRCm39) E383G probably damaging Het
Chst4 A T 8: 110,756,476 (GRCm39) H379Q probably benign Het
Clca3b A T 3: 144,529,280 (GRCm39) I798N probably damaging Het
Cldnd1 T G 16: 58,553,016 (GRCm39) L159R possibly damaging Het
Cntnap3 T C 13: 64,906,104 (GRCm39) E834G probably damaging Het
Col2a1 C T 15: 97,877,083 (GRCm39) R1065Q probably damaging Het
Dchs1 T C 7: 105,415,162 (GRCm39) D674G probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Egfr A G 11: 16,819,241 (GRCm39) E257G probably benign Het
Eif4b C T 15: 101,998,336 (GRCm39) R339* probably null Het
Fat1 C T 8: 45,476,420 (GRCm39) T1822M probably benign Het
Fmo4 T C 1: 162,631,269 (GRCm39) M233V possibly damaging Het
Gabbr2 T A 4: 46,684,319 (GRCm39) M652L probably benign Het
Gal3st2c G A 1: 93,934,650 (GRCm39) V13M probably damaging Het
Gapvd1 C T 2: 34,599,240 (GRCm39) G686D probably damaging Het
Gdap1l1 T G 2: 163,280,524 (GRCm39) L20R probably damaging Het
Gm5800 A T 14: 51,952,016 (GRCm39) M82K probably benign Het
Grm6 T A 11: 50,753,972 (GRCm39) C759S probably damaging Het
Hs3st1 A T 5: 39,772,393 (GRCm39) D83E probably benign Het
Il12rb1 A G 8: 71,263,250 (GRCm39) D39G probably damaging Het
Ldhb C A 6: 142,438,324 (GRCm39) K244N possibly damaging Het
Lypd6 C T 2: 50,080,710 (GRCm39) R133* probably null Het
Med13l G A 5: 118,859,457 (GRCm39) G215S probably damaging Het
Ncoa1 T C 12: 4,345,196 (GRCm39) D606G probably damaging Het
Noc2l C T 4: 156,325,079 (GRCm39) T151M probably damaging Het
Or10q3 T C 19: 11,847,741 (GRCm39) T280A probably damaging Het
Or2ag2 T C 7: 106,485,217 (GRCm39) K269R probably benign Het
Or2at4 T C 7: 99,384,563 (GRCm39) L71P probably damaging Het
Or2t26 T A 11: 49,040,016 (GRCm39) C311S probably benign Het
Or5aq1b T C 2: 86,901,741 (GRCm39) T246A probably benign Het
Ppm1l G A 3: 69,460,403 (GRCm39) G327R probably damaging Het
Rapgef5 C T 12: 117,558,911 (GRCm39) A282V probably benign Het
Rnf139 T C 15: 58,771,367 (GRCm39) V464A probably damaging Het
Rprd2 C T 3: 95,672,047 (GRCm39) E1119K probably damaging Het
Sipa1l2 G A 8: 126,219,001 (GRCm39) T112I probably benign Het
Skint6 T C 4: 113,005,720 (GRCm39) T363A possibly damaging Het
Slc22a16 G T 10: 40,479,811 (GRCm39) E607* probably null Het
Slc24a2 T C 4: 86,909,648 (GRCm39) Y690C probably damaging Het
Slc25a23 T C 17: 57,354,306 (GRCm39) S115G probably benign Het
Slc4a3 T C 1: 75,527,535 (GRCm39) L168P probably damaging Het
Spats2 T A 15: 99,076,333 (GRCm39) I137N possibly damaging Het
Stard4 A T 18: 33,338,151 (GRCm39) V133D probably damaging Het
Syn3 A G 10: 86,284,728 (GRCm39) probably null Het
Tfpi A G 2: 84,263,447 (GRCm39) I305T probably damaging Het
Tmtc1 T A 6: 148,314,318 (GRCm39) probably null Het
Tpcn1 A C 5: 120,682,485 (GRCm39) W508G probably damaging Het
Ubr5 A T 15: 38,030,974 (GRCm39) N406K possibly damaging Het
Xrcc1 T A 7: 24,265,052 (GRCm39) L118* probably null Het
Zbtb5 T C 4: 44,995,129 (GRCm39) Y85C probably damaging Het
Zfand4 C A 6: 116,306,373 (GRCm39) Y735* probably null Het
Zfp180 G T 7: 23,805,333 (GRCm39) C584F probably damaging Het
Other mutations in Fgd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Fgd3 APN 13 49,429,119 (GRCm39) splice site probably benign
IGL00816:Fgd3 APN 13 49,418,262 (GRCm39) splice site probably benign
IGL01797:Fgd3 APN 13 49,443,065 (GRCm39) missense probably damaging 1.00
IGL01993:Fgd3 APN 13 49,433,664 (GRCm39) missense possibly damaging 0.62
IGL02134:Fgd3 APN 13 49,450,225 (GRCm39) missense possibly damaging 0.84
IGL02327:Fgd3 APN 13 49,439,274 (GRCm39) missense probably damaging 1.00
IGL02367:Fgd3 APN 13 49,440,802 (GRCm39) missense probably damaging 1.00
IGL02532:Fgd3 APN 13 49,439,237 (GRCm39) missense probably damaging 1.00
IGL02830:Fgd3 APN 13 49,418,107 (GRCm39) splice site probably benign
IGL02888:Fgd3 APN 13 49,435,292 (GRCm39) critical splice donor site probably null
IGL03209:Fgd3 APN 13 49,439,294 (GRCm39) missense probably damaging 1.00
R0016:Fgd3 UTSW 13 49,450,085 (GRCm39) missense probably benign 0.10
R0016:Fgd3 UTSW 13 49,450,085 (GRCm39) missense probably benign 0.10
R0064:Fgd3 UTSW 13 49,449,901 (GRCm39) missense possibly damaging 0.73
R0064:Fgd3 UTSW 13 49,449,901 (GRCm39) missense possibly damaging 0.73
R0285:Fgd3 UTSW 13 49,417,424 (GRCm39) missense possibly damaging 0.89
R0526:Fgd3 UTSW 13 49,450,000 (GRCm39) missense probably benign 0.00
R0617:Fgd3 UTSW 13 49,418,173 (GRCm39) missense possibly damaging 0.80
R0648:Fgd3 UTSW 13 49,450,049 (GRCm39) missense probably benign 0.23
R1529:Fgd3 UTSW 13 49,420,170 (GRCm39) missense probably benign 0.19
R1913:Fgd3 UTSW 13 49,417,324 (GRCm39) missense possibly damaging 0.89
R2002:Fgd3 UTSW 13 49,449,931 (GRCm39) missense probably benign 0.05
R4342:Fgd3 UTSW 13 49,427,185 (GRCm39) critical splice donor site probably null
R4606:Fgd3 UTSW 13 49,450,036 (GRCm39) missense probably damaging 1.00
R4810:Fgd3 UTSW 13 49,443,126 (GRCm39) missense probably benign 0.01
R4885:Fgd3 UTSW 13 49,417,465 (GRCm39) missense possibly damaging 0.66
R4962:Fgd3 UTSW 13 49,420,105 (GRCm39) missense probably benign 0.03
R4974:Fgd3 UTSW 13 49,432,078 (GRCm39) missense probably damaging 1.00
R5201:Fgd3 UTSW 13 49,449,854 (GRCm39) missense probably benign 0.00
R5524:Fgd3 UTSW 13 49,431,053 (GRCm39) missense probably damaging 0.97
R5588:Fgd3 UTSW 13 49,440,786 (GRCm39) missense probably damaging 1.00
R5710:Fgd3 UTSW 13 49,450,205 (GRCm39) missense probably benign 0.00
R5753:Fgd3 UTSW 13 49,428,416 (GRCm39) missense possibly damaging 0.94
R6048:Fgd3 UTSW 13 49,427,224 (GRCm39) missense probably benign 0.01
R6086:Fgd3 UTSW 13 49,440,772 (GRCm39) missense probably benign 0.12
R7293:Fgd3 UTSW 13 49,418,134 (GRCm39) missense probably benign 0.00
R7311:Fgd3 UTSW 13 49,450,166 (GRCm39) missense possibly damaging 0.94
R7383:Fgd3 UTSW 13 49,421,785 (GRCm39) missense possibly damaging 0.50
R8205:Fgd3 UTSW 13 49,449,823 (GRCm39) missense probably benign 0.11
R8463:Fgd3 UTSW 13 49,420,081 (GRCm39) missense possibly damaging 0.89
R8513:Fgd3 UTSW 13 49,417,400 (GRCm39) missense probably benign 0.00
Z1176:Fgd3 UTSW 13 49,435,302 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCTGGGGATAACACCAAGTGAG -3'
(R):5'- ATGGGAGGAGGCAGTATCTTGACC -3'

Sequencing Primer
(F):5'- tctctgtctgtttctgtctgtc -3'
(R):5'- AGTTCCTCTATCATTAGGCACctttg -3'
Posted On 2014-04-13