Incidental Mutation 'IGL00823:Fgd5'
ID 10768
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: 0.200) question?
Stock # IGL00823
Quality Score
Status
Chromosome 6
Chromosomal Location 91955859-92052985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91965440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 400 (S400T)
Ref Sequence ENSEMBL: ENSMUSP00000109093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000089334
AA Change: S558T

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: S558T

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 possibly damaging
Transcript: ENSMUST00000113466
AA Change: S400T

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: S400T

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Fgd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Fgd5 APN 6 92,038,824 (GRCm39) nonsense probably null
IGL01597:Fgd5 APN 6 91,964,910 (GRCm39) missense probably damaging 1.00
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 2012-12-06