Incidental Mutation 'R5588:Fgd3'
ID 438910
Institutional Source Beutler Lab
Gene Symbol Fgd3
Ensembl Gene ENSMUSG00000037946
Gene Name FYVE, RhoGEF and PH domain containing 3
Synonyms ZFYVE5, 5830461L01Rik
MMRRC Submission 043268-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5588 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 49415030-49473783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49440786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 215 (L215Q)
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: L215Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: L215Q

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: L215Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: L215Q

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: L215Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: L215Q

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,949,417 (GRCm39) Q1105K possibly damaging Het
Afg3l2 A T 18: 67,573,277 (GRCm39) V175D possibly damaging Het
Aldh1a2 G A 9: 71,190,732 (GRCm39) R325H probably damaging Het
Arhgef18 T A 8: 3,438,878 (GRCm39) probably benign Het
Atp8a1 A G 5: 67,972,027 (GRCm39) L43P probably damaging Het
Bdh1 T C 16: 31,256,937 (GRCm39) probably null Het
Ccdc85c T C 12: 108,177,793 (GRCm39) Y320C probably damaging Het
Cobl A T 11: 12,293,886 (GRCm39) L290* probably null Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Dhx34 T C 7: 15,932,825 (GRCm39) H1038R probably damaging Het
Eea1 T C 10: 95,859,772 (GRCm39) V686A probably benign Het
Eif2b4 A T 5: 31,349,517 (GRCm39) C101* probably null Het
Eif4a3 A C 11: 119,186,952 (GRCm39) S84A probably benign Het
Elfn2 T C 15: 78,558,076 (GRCm39) D157G probably damaging Het
Fat2 T A 11: 55,173,103 (GRCm39) I2537F probably damaging Het
Fbxo38 A G 18: 62,659,248 (GRCm39) F350L probably damaging Het
Fhdc1 A G 3: 84,372,783 (GRCm39) V73A possibly damaging Het
Gapvd1 T A 2: 34,599,166 (GRCm39) T690S probably damaging Het
Gask1a C T 9: 121,794,247 (GRCm39) Q134* probably null Het
Gm14418 A T 2: 177,079,065 (GRCm39) I310K probably benign Het
Gm5141 A T 13: 62,921,584 (GRCm39) N528K probably benign Het
Gsap A C 5: 21,456,147 (GRCm39) E417A probably damaging Het
Kcnab1 A C 3: 65,283,976 (GRCm39) D398A possibly damaging Het
Kif5b T G 18: 6,225,787 (GRCm39) N160T probably benign Het
Lilrb4b G A 10: 51,357,422 (GRCm39) R86Q probably benign Het
Lmo7 T C 14: 102,134,026 (GRCm39) probably null Het
Mlph T C 1: 90,859,321 (GRCm39) S219P possibly damaging Het
Ncapg2 T C 12: 116,376,697 (GRCm39) I95T possibly damaging Het
Nedd9 A T 13: 41,469,437 (GRCm39) I572N possibly damaging Het
Nup155 G A 15: 8,148,737 (GRCm39) probably null Het
Olfml2a T C 2: 38,850,047 (GRCm39) S588P probably damaging Het
Or4a68 T C 2: 89,269,760 (GRCm39) R288G probably damaging Het
Or4c12 T A 2: 89,774,136 (GRCm39) T108S probably benign Het
Or6c1 T G 10: 129,517,705 (GRCm39) N301T possibly damaging Het
Parva C A 7: 112,159,269 (GRCm39) N142K possibly damaging Het
Pclo T A 5: 14,838,412 (GRCm39) S4678R unknown Het
Pcnt T C 10: 76,278,445 (GRCm39) D3G possibly damaging Het
Pdzd2 A C 15: 12,374,367 (GRCm39) S1923A possibly damaging Het
Per1 G A 11: 68,998,453 (GRCm39) G1055D probably damaging Het
Phf8-ps G A 17: 33,285,249 (GRCm39) Q518* probably null Het
Plb1 G A 5: 32,487,293 (GRCm39) probably null Het
Ppp1r14a C T 7: 28,992,709 (GRCm39) P137L probably damaging Het
Rfx2 A T 17: 57,086,890 (GRCm39) S612T possibly damaging Het
Rtel1 T C 2: 180,993,893 (GRCm39) F642L probably benign Het
Sec14l3 T C 11: 4,016,138 (GRCm39) F19S probably damaging Het
Skint8 A T 4: 111,794,089 (GRCm39) M160L probably benign Het
Slc19a3 G T 1: 83,000,776 (GRCm39) Y80* probably null Het
Slc37a1 T A 17: 31,565,431 (GRCm39) W489R probably damaging Het
Smc4 A G 3: 68,933,190 (GRCm39) I604V probably benign Het
Srprb G T 9: 103,076,048 (GRCm39) Y796* probably null Het
Tdrd7 T A 4: 45,992,225 (GRCm39) S220T probably benign Het
Tex15 T C 8: 34,067,215 (GRCm39) F2215S probably damaging Het
Ticrr C T 7: 79,328,853 (GRCm39) A664V probably damaging Het
Tnc T G 4: 63,924,659 (GRCm39) D1013A possibly damaging Het
Tpte T A 8: 22,774,983 (GRCm39) Y18N possibly damaging Het
Ubqlnl T A 7: 103,798,339 (GRCm39) Q386L probably damaging Het
Vmn1r194 T C 13: 22,428,512 (GRCm39) V43A possibly damaging Het
Vmn2r130 A T 17: 23,282,803 (GRCm39) Q161L probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zfhx4 T G 3: 5,468,198 (GRCm39) D2785E 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
R1577:Fgd3 UTSW 13 49,435,413 (GRCm39) missense probably damaging 0.99
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
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'- TCCAGATGTCAAATCTCATCTAGATCC -3'
(R):5'- ACTTATGTGGCAGGCGTATG -3'

Sequencing Primer
(F):5'- CTCAAGAGACATCAGTTATGGTCACG -3'
(R):5'- GGCGTATGAGTCACTCACACTC -3'
Posted On 2016-10-26