Incidental Mutation 'R8176:Fgd5'
ID 634339
Institutional Source Beutler Lab
Gene Symbol Fgd5
Ensembl Gene ENSMUSG00000034037
Gene Name FYVE, RhoGEF and PH domain containing 5
Synonyms C330025N11Rik, ZFYVE23
MMRRC Submission 067601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R8176 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 91955859-92052985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91964965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 399 (N399K)
Ref Sequence ENSEMBL: ENSMUSP00000086748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089334
AA Change: N399K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: N399K

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 benign
Transcript: ENSMUST00000113466
AA Change: N241K

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: N241K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik T A 12: 31,235,135 (GRCm39) F172I noncoding transcript Het
Aatk A G 11: 119,907,241 (GRCm39) V154A probably damaging Het
Abca6 A C 11: 110,135,020 (GRCm39) V255G probably benign Het
Adam8 T C 7: 139,568,786 (GRCm39) K211E probably benign Het
Alg12 A G 15: 88,690,084 (GRCm39) V470A possibly damaging Het
Anks1b C A 10: 89,905,353 (GRCm39) H231Q probably damaging Het
Bcl2 T C 1: 106,640,528 (GRCm39) Y28C probably damaging Het
Bms1 G T 6: 118,395,411 (GRCm39) F45L probably damaging Het
Btd T A 14: 31,384,073 (GRCm39) F20I probably benign Het
C1rl T C 6: 124,470,844 (GRCm39) S51P probably benign Het
Capn7 C A 14: 31,069,729 (GRCm39) F184L probably benign Het
Cd300lg A T 11: 101,932,390 (GRCm39) probably benign Het
Cdc34 T C 10: 79,518,362 (GRCm39) Y39H probably damaging Het
Cenpe A G 3: 134,935,851 (GRCm39) K429E probably damaging Het
Cfap43 T C 19: 47,784,114 (GRCm39) N473S probably benign Het
Cntln C T 4: 84,806,926 (GRCm39) T136I probably damaging Het
Cyfip1 A T 7: 55,574,175 (GRCm39) L1032F probably benign Het
Dach1 C T 14: 98,153,916 (GRCm39) V392I probably benign Het
Dnah14 C T 1: 181,484,598 (GRCm39) S1590L probably damaging Het
Dsp T C 13: 38,376,786 (GRCm39) Y1524H possibly damaging Het
Dusp13b T C 14: 21,797,549 (GRCm39) I103V possibly damaging Het
Eeig1 A G 2: 32,453,624 (GRCm39) T158A probably benign Het
Efhb T C 17: 53,707,874 (GRCm39) Y763C probably damaging Het
Fam117a G T 11: 95,227,965 (GRCm39) R25L unknown Het
Fcgbp T C 7: 27,791,174 (GRCm39) S812P possibly damaging Het
Foxi3 T A 6: 70,934,017 (GRCm39) I168N probably damaging Het
Frem2 A T 3: 53,562,761 (GRCm39) I582K possibly damaging Het
Gm21915 T A 9: 40,582,266 (GRCm39) S120T probably benign Het
Gtf3c5 A G 2: 28,460,429 (GRCm39) probably null Het
Hecw1 A T 13: 14,422,286 (GRCm39) probably null Het
Hsf2 T A 10: 57,381,290 (GRCm39) Y293* probably null Het
Ints10 T A 8: 69,255,603 (GRCm39) Y198N probably damaging Het
Iqgap3 A G 3: 88,001,957 (GRCm39) E399G probably damaging Het
Itsn1 T A 16: 91,645,597 (GRCm39) probably null Het
Kcnh8 T C 17: 53,285,122 (GRCm39) S1031P probably damaging Het
Llgl1 A G 11: 60,597,387 (GRCm39) T279A probably benign Het
Ly6a C T 15: 74,868,300 (GRCm39) probably null Het
Marchf4 T C 1: 72,573,998 (GRCm39) E100G probably damaging Het
Mta1 A G 12: 113,084,456 (GRCm39) E84G probably benign Het
Myh7b A G 2: 155,467,886 (GRCm39) Y808C probably benign Het
Ncoa1 A G 12: 4,317,858 (GRCm39) V1158A possibly damaging Het
Npepps A G 11: 97,126,977 (GRCm39) S428P probably damaging Het
Onecut2 A T 18: 64,473,931 (GRCm39) T161S possibly damaging Het
Or10j27 C T 1: 172,958,383 (GRCm39) V134I probably benign Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or6c5 T G 10: 129,074,747 (GRCm39) M243R probably benign Het
Pdp2 A G 8: 105,321,687 (GRCm39) D512G probably damaging Het
Pex11b G T 3: 96,551,027 (GRCm39) V171L probably benign Het
Potefam2 T C 7: 62,432,783 (GRCm39) probably null Het
Ppil3 A T 1: 58,480,078 (GRCm39) C32* probably null Het
Prune2 T C 19: 17,095,656 (GRCm39) Y387H probably damaging Het
Rbp3 C A 14: 33,677,605 (GRCm39) H518N possibly damaging Het
Rhot2 T C 17: 26,063,068 (GRCm39) Y58C probably damaging Het
Sec16b C A 1: 157,362,981 (GRCm39) H271N probably damaging Het
Sgo2a A G 1: 58,056,252 (GRCm39) D812G possibly damaging Het
Skap2 T C 6: 51,884,878 (GRCm39) E261G probably damaging Het
Spata31d1b A G 13: 59,865,117 (GRCm39) N755S probably benign Het
Stat5a T A 11: 100,767,689 (GRCm39) M419K probably damaging Het
Tecta C T 9: 42,270,465 (GRCm39) C1281Y probably damaging Het
Tm9sf2 T G 14: 122,374,913 (GRCm39) S196R probably benign Het
Trpm8 A T 1: 88,292,837 (GRCm39) H946L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGGAGGAACCACCCAATTG -3'
(R):5'- TCATTCTCTGGCACGACCAC -3'

Sequencing Primer
(F):5'- CCCAATTGTGACGAGGAAGCC -3'
(R):5'- ACATCAGGGACCACCGG -3'
Posted On 2020-07-13