Incidental Mutation 'IGL02825:Fgd5'
ID361187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgd5
Ensembl Gene ENSMUSG00000034037
Gene NameFYVE, RhoGEF and PH domain containing 5
SynonymsC330025N11Rik, ZFYVE23
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.250) question?
Stock #IGL02825
Quality Score
Status
Chromosome6
Chromosomal Location91978878-92076004 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 92038087 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]
Predicted Effect probably null
Transcript: ENSMUST00000089334
SMART Domains Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037

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 null
Transcript: ENSMUST00000113466
SMART Domains Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,843,698 V163A possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
B3gnt4 T C 5: 123,511,051 F160L possibly damaging Het
Brd3 T C 2: 27,449,263 E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 R746C probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chl1 T A 6: 103,668,803 V268E possibly damaging Het
Cpb1 T A 3: 20,249,725 I392F probably damaging Het
Dnaic1 T C 4: 41,625,101 probably benign Het
Dync2h1 T C 9: 6,955,901 probably benign Het
Edc4 T C 8: 105,890,611 S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 L296R probably damaging Het
Gm28042 T A 2: 120,031,644 M232K probably damaging Het
Gm884 G A 11: 103,617,068 probably benign Het
Ints1 A T 5: 139,764,739 S888T probably benign Het
Kirrel A T 3: 87,089,288 probably benign Het
Lrp1 C T 10: 127,542,605 R4037Q probably damaging Het
Lrrn3 A T 12: 41,452,593 V575D probably damaging Het
Mapk11 A G 15: 89,146,382 Y103H probably damaging Het
Mrpl19 G T 6: 81,965,815 T38K probably benign Het
Nefl A T 14: 68,084,346 K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 N242D probably damaging Het
Olfr601 T C 7: 103,358,361 I278V probably benign Het
Olfr959 A T 9: 39,572,581 I226N probably damaging Het
Oprd1 T A 4: 132,117,359 T113S probably damaging Het
Pds5b C T 5: 150,728,970 T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 T148M probably damaging Het
Rph3a T C 5: 120,945,446 K587R possibly damaging Het
Scn3b T C 9: 40,277,145 C5R probably damaging Het
Sirpa C T 2: 129,615,452 P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 C486S probably damaging Het
Spin1 C A 13: 51,123,296 probably benign Het
Stom C A 2: 35,321,632 V126F probably damaging Het
Tom1 A G 8: 75,057,255 D64G probably damaging Het
Trbv4 T A 6: 41,059,679 L46Q probably damaging Het
Trhr A T 15: 44,229,525 D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 probably benign Het
Vmn2r63 A G 7: 42,926,850 probably null Het
Zfp277 T C 12: 40,317,176 K494E probably benign Het
Zranb3 A T 1: 127,959,752 S979R probably benign Het
Other mutations in Fgd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Fgd5 APN 6 91988459 missense possibly damaging 0.63
IGL01354:Fgd5 APN 6 92061843 nonsense probably null
IGL01597:Fgd5 APN 6 91987929 missense probably damaging 1.00
IGL01648:Fgd5 APN 6 91989359 nonsense probably null
IGL01781:Fgd5 APN 6 91988717 missense possibly damaging 0.88
IGL01977:Fgd5 APN 6 92024562 missense probably benign 0.20
IGL02053:Fgd5 APN 6 92053244 missense probably benign 0.03
IGL02206:Fgd5 APN 6 91987258 utr 5 prime probably benign
IGL02838:Fgd5 APN 6 91987674 missense probably benign
IGL03126:Fgd5 APN 6 92065164 missense probably damaging 1.00
IGL03369:Fgd5 APN 6 91988415 missense probably damaging 1.00
hygeia UTSW 6 91989300 missense probably damaging 1.00
Imploded UTSW 6 92049931 intron probably null
R0029:Fgd5 UTSW 6 92067558 missense probably benign 0.04
R0109:Fgd5 UTSW 6 91988235 missense possibly damaging 0.74
R0109:Fgd5 UTSW 6 91988235 missense possibly damaging 0.74
R0212:Fgd5 UTSW 6 91988208 missense probably damaging 1.00
R1148:Fgd5 UTSW 6 91987631 missense probably benign
R1148:Fgd5 UTSW 6 91987631 missense probably benign
R1159:Fgd5 UTSW 6 91988502 missense probably benign 0.00
R1199:Fgd5 UTSW 6 91986978 missense possibly damaging 0.87
R1493:Fgd5 UTSW 6 91987631 missense probably benign
R1602:Fgd5 UTSW 6 92066184 missense possibly damaging 0.95
R1953:Fgd5 UTSW 6 92024630 missense probably benign 0.31
R2280:Fgd5 UTSW 6 91988945 missense possibly damaging 0.86
R2437:Fgd5 UTSW 6 92062869 nonsense probably null
R2883:Fgd5 UTSW 6 91987109 unclassified probably null
R4133:Fgd5 UTSW 6 92069437 missense probably damaging 1.00
R4454:Fgd5 UTSW 6 91989186 missense probably damaging 1.00
R4491:Fgd5 UTSW 6 91989299 missense possibly damaging 0.90
R4606:Fgd5 UTSW 6 91988209 missense possibly damaging 0.67
R4981:Fgd5 UTSW 6 91989300 missense probably damaging 1.00
R5162:Fgd5 UTSW 6 92074234 missense probably damaging 1.00
R5525:Fgd5 UTSW 6 92066247 missense probably damaging 1.00
R5570:Fgd5 UTSW 6 91988687 missense probably damaging 1.00
R5936:Fgd5 UTSW 6 91987911 missense probably damaging 0.98
R6012:Fgd5 UTSW 6 91989341 missense possibly damaging 0.95
R6723:Fgd5 UTSW 6 91988030 missense probably benign
R6764:Fgd5 UTSW 6 91989421 missense probably damaging 0.96
R7187:Fgd5 UTSW 6 91988291 missense possibly damaging 0.54
R7383:Fgd5 UTSW 6 91987118 missense probably benign 0.01
R7418:Fgd5 UTSW 6 92024538 missense probably benign 0.11
R7662:Fgd5 UTSW 6 92049931 intron probably null
R7788:Fgd5 UTSW 6 91988459 missense possibly damaging 0.63
R7882:Fgd5 UTSW 6 92068478 missense probably damaging 1.00
R7895:Fgd5 UTSW 6 91987281 missense probably benign 0.03
R8041:Fgd5 UTSW 6 92061856 missense probably damaging 0.98
R8053:Fgd5 UTSW 6 91989444 missense probably benign 0.34
R8176:Fgd5 UTSW 6 91987984 missense probably benign 0.13
R8243:Fgd5 UTSW 6 91989023 missense possibly damaging 0.93
R8318:Fgd5 UTSW 6 91987496 missense probably benign 0.17
X0064:Fgd5 UTSW 6 92050040 missense probably benign 0.02
Z1176:Fgd5 UTSW 6 91988889 missense probably damaging 1.00
Posted On2015-12-18