Incidental Mutation 'IGL01597:Fgd5'
ID 91708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgd5
Ensembl Gene ENSMUSG00000034037
Gene Name FYVE, RhoGEF and PH domain containing 5
Synonyms C330025N11Rik, ZFYVE23
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL01597
Quality Score
Status
Chromosome 6
Chromosomal Location 91955859-92052985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91964910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 381 (I381N)
Ref Sequence ENSEMBL: ENSMUSP00000086748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000089334
AA Change: I381N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: I381N

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
internal_repeat_1 126 169 2.6e-7 PROSPERO
internal_repeat_1 164 198 2.6e-7 PROSPERO
low complexity region 201 222 N/A INTRINSIC
low complexity region 254 269 N/A INTRINSIC
low complexity region 321 332 N/A INTRINSIC
low complexity region 426 442 N/A INTRINSIC
low complexity region 453 475 N/A INTRINSIC
low complexity region 652 663 N/A INTRINSIC
low complexity region 695 705 N/A INTRINSIC
low complexity region 727 736 N/A INTRINSIC
low complexity region 879 894 N/A INTRINSIC
low complexity region 914 928 N/A INTRINSIC
Pfam:RhoGEF 946 1134 2.2e-28 PFAM
PH 1165 1260 4.93e-13 SMART
FYVE 1285 1353 2.51e-16 SMART
low complexity region 1368 1390 N/A INTRINSIC
PH 1416 1514 2.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113466
AA Change: I223N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: I223N

DomainStartEndE-ValueType
low complexity region 43 64 N/A INTRINSIC
low complexity region 96 111 N/A INTRINSIC
low complexity region 163 174 N/A INTRINSIC
low complexity region 268 284 N/A INTRINSIC
low complexity region 295 317 N/A INTRINSIC
low complexity region 494 505 N/A INTRINSIC
low complexity region 537 547 N/A INTRINSIC
low complexity region 569 578 N/A INTRINSIC
low complexity region 721 736 N/A INTRINSIC
low complexity region 756 770 N/A INTRINSIC
Pfam:RhoGEF 788 976 1.6e-27 PFAM
PH 1007 1102 4.93e-13 SMART
FYVE 1127 1195 2.51e-16 SMART
low complexity region 1210 1232 N/A INTRINSIC
PH 1258 1356 2.77e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 A T 5: 16,531,390 (GRCm39) probably benign Het
Cdk12 A G 11: 98,141,090 (GRCm39) probably benign Het
Ces1e T A 8: 93,937,001 (GRCm39) I357F probably benign Het
Dicer1 G A 12: 104,671,469 (GRCm39) R934* probably null Het
Dnah9 A T 11: 66,009,656 (GRCm39) Y744N probably damaging Het
Gabrg1 T C 5: 70,939,691 (GRCm39) D147G probably damaging Het
Gpsm2 A T 3: 108,604,303 (GRCm39) M385K probably benign Het
Hivep2 C T 10: 14,025,118 (GRCm39) Q2311* probably null Het
Or51ah3 A G 7: 103,210,349 (GRCm39) I222V possibly damaging Het
Or51b17 A G 7: 103,542,303 (GRCm39) V213A probably benign Het
Or5c1 A C 2: 37,222,023 (GRCm39) D88A possibly damaging Het
Or7e173 A T 9: 19,938,982 (GRCm39) M84K probably damaging Het
Papss2 G A 19: 32,615,658 (GRCm39) R130H probably damaging Het
Pik3r5 A T 11: 68,386,827 (GRCm39) I819F probably damaging Het
Pipox A G 11: 77,774,019 (GRCm39) V199A probably damaging Het
Pkd1l3 G T 8: 110,350,153 (GRCm39) V333L probably benign Het
Rbl1 A G 2: 157,037,369 (GRCm39) probably benign Het
Scyl2 T A 10: 89,488,849 (GRCm39) I489F probably damaging Het
Serinc4 T A 2: 121,285,472 (GRCm39) L100F probably damaging Het
Slc39a12 T A 2: 14,439,120 (GRCm39) F458Y possibly damaging Het
Snrnp200 T C 2: 127,080,652 (GRCm39) probably benign Het
Syngr4 T C 7: 45,536,390 (GRCm39) T211A probably benign Het
Taar8a T C 10: 23,952,756 (GRCm39) L120P possibly damaging Het
Tbx10 A G 19: 4,046,736 (GRCm39) K72R probably benign Het
Tomm70a A G 16: 56,953,551 (GRCm39) T149A probably benign Het
Traip T A 9: 107,833,123 (GRCm39) probably null Het
Trpm3 G A 19: 22,692,610 (GRCm39) G234R probably damaging Het
Tubgcp5 A G 7: 55,456,580 (GRCm39) probably benign Het
Vstm5 T C 9: 15,168,675 (GRCm39) W80R probably damaging Het
Vwa5a A T 9: 38,645,161 (GRCm39) R415S probably damaging Het
Zfp39 A G 11: 58,782,369 (GRCm39) V131A probably damaging Het
Other mutations in Fgd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Fgd5 APN 6 91,965,440 (GRCm39) missense possibly damaging 0.63
IGL01354:Fgd5 APN 6 92,038,824 (GRCm39) nonsense probably null
IGL01648:Fgd5 APN 6 91,966,340 (GRCm39) nonsense probably null
IGL01781:Fgd5 APN 6 91,965,698 (GRCm39) missense possibly damaging 0.88
IGL01977:Fgd5 APN 6 92,001,543 (GRCm39) missense probably benign 0.20
IGL02053:Fgd5 APN 6 92,030,225 (GRCm39) missense probably benign 0.03
IGL02206:Fgd5 APN 6 91,964,239 (GRCm39) utr 5 prime probably benign
IGL02825:Fgd5 APN 6 92,015,068 (GRCm39) splice site probably null
IGL02838:Fgd5 APN 6 91,964,655 (GRCm39) missense probably benign
IGL03126:Fgd5 APN 6 92,042,145 (GRCm39) missense probably damaging 1.00
IGL03369:Fgd5 APN 6 91,965,396 (GRCm39) missense probably damaging 1.00
hygeia UTSW 6 91,966,281 (GRCm39) missense probably damaging 1.00
Imploded UTSW 6 92,026,912 (GRCm39) splice site probably null
R0029:Fgd5 UTSW 6 92,044,539 (GRCm39) missense probably benign 0.04
R0109:Fgd5 UTSW 6 91,965,216 (GRCm39) missense possibly damaging 0.74
R0109:Fgd5 UTSW 6 91,965,216 (GRCm39) missense possibly damaging 0.74
R0212:Fgd5 UTSW 6 91,965,189 (GRCm39) missense probably damaging 1.00
R1148:Fgd5 UTSW 6 91,964,612 (GRCm39) missense probably benign
R1148:Fgd5 UTSW 6 91,964,612 (GRCm39) missense probably benign
R1159:Fgd5 UTSW 6 91,965,483 (GRCm39) missense probably benign 0.00
R1199:Fgd5 UTSW 6 91,963,959 (GRCm39) missense possibly damaging 0.87
R1493:Fgd5 UTSW 6 91,964,612 (GRCm39) missense probably benign
R1602:Fgd5 UTSW 6 92,043,165 (GRCm39) missense possibly damaging 0.95
R1953:Fgd5 UTSW 6 92,001,611 (GRCm39) missense probably benign 0.31
R2280:Fgd5 UTSW 6 91,965,926 (GRCm39) missense possibly damaging 0.86
R2437:Fgd5 UTSW 6 92,039,850 (GRCm39) nonsense probably null
R2883:Fgd5 UTSW 6 91,964,090 (GRCm39) splice site probably null
R4133:Fgd5 UTSW 6 92,046,418 (GRCm39) missense probably damaging 1.00
R4454:Fgd5 UTSW 6 91,966,167 (GRCm39) missense probably damaging 1.00
R4491:Fgd5 UTSW 6 91,966,280 (GRCm39) missense possibly damaging 0.90
R4606:Fgd5 UTSW 6 91,965,190 (GRCm39) missense possibly damaging 0.67
R4981:Fgd5 UTSW 6 91,966,281 (GRCm39) missense probably damaging 1.00
R5162:Fgd5 UTSW 6 92,051,215 (GRCm39) missense probably damaging 1.00
R5525:Fgd5 UTSW 6 92,043,228 (GRCm39) missense probably damaging 1.00
R5570:Fgd5 UTSW 6 91,965,668 (GRCm39) missense probably damaging 1.00
R5936:Fgd5 UTSW 6 91,964,892 (GRCm39) missense probably damaging 0.98
R6012:Fgd5 UTSW 6 91,966,322 (GRCm39) missense possibly damaging 0.95
R6723:Fgd5 UTSW 6 91,965,011 (GRCm39) missense probably benign
R6764:Fgd5 UTSW 6 91,966,402 (GRCm39) missense probably damaging 0.96
R7187:Fgd5 UTSW 6 91,965,272 (GRCm39) missense possibly damaging 0.54
R7383:Fgd5 UTSW 6 91,964,099 (GRCm39) missense probably benign 0.01
R7418:Fgd5 UTSW 6 92,001,519 (GRCm39) missense probably benign 0.11
R7662:Fgd5 UTSW 6 92,026,912 (GRCm39) splice site probably null
R7788:Fgd5 UTSW 6 91,965,440 (GRCm39) missense possibly damaging 0.63
R7882:Fgd5 UTSW 6 92,045,459 (GRCm39) missense probably damaging 1.00
R7895:Fgd5 UTSW 6 91,964,262 (GRCm39) missense probably benign 0.03
R8041:Fgd5 UTSW 6 92,038,837 (GRCm39) missense probably damaging 0.98
R8053:Fgd5 UTSW 6 91,966,425 (GRCm39) missense probably benign 0.34
R8176:Fgd5 UTSW 6 91,964,965 (GRCm39) missense probably benign 0.13
R8243:Fgd5 UTSW 6 91,966,004 (GRCm39) missense possibly damaging 0.93
R8318:Fgd5 UTSW 6 91,964,477 (GRCm39) missense probably benign 0.17
R8772:Fgd5 UTSW 6 92,027,400 (GRCm39) missense probably damaging 0.99
R8804:Fgd5 UTSW 6 91,964,507 (GRCm39) missense probably benign
R9036:Fgd5 UTSW 6 92,046,447 (GRCm39) nonsense probably null
R9041:Fgd5 UTSW 6 91,964,427 (GRCm39) missense probably benign 0.15
R9173:Fgd5 UTSW 6 92,044,584 (GRCm39) critical splice donor site probably null
R9206:Fgd5 UTSW 6 92,015,191 (GRCm39) missense probably damaging 1.00
R9424:Fgd5 UTSW 6 91,956,017 (GRCm39) nonsense probably null
R9437:Fgd5 UTSW 6 91,964,627 (GRCm39) missense probably benign 0.07
R9715:Fgd5 UTSW 6 91,965,290 (GRCm39) missense possibly damaging 0.91
R9721:Fgd5 UTSW 6 91,965,278 (GRCm39) missense probably benign 0.09
X0064:Fgd5 UTSW 6 92,027,021 (GRCm39) missense probably benign 0.02
Z1176:Fgd5 UTSW 6 91,965,870 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09