Incidental Mutation 'R2437:Fgd5'
ID 249655
Institutional Source Beutler Lab
Gene Symbol Fgd5
Ensembl Gene ENSMUSG00000034037
Gene Name FYVE, RhoGEF and PH domain containing 5
Synonyms C330025N11Rik, ZFYVE23
MMRRC Submission 040398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R2437 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91955859-92052985 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92039850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1017 (R1017*)
Ref Sequence ENSEMBL: ENSMUSP00000109093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000089334
AA Change: R1175*
SMART Domains Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: R1175*

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
AA Change: R1017*
SMART Domains Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: R1017*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146743
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,031,075 (GRCm39) *635W probably null Het
Anxa2 A G 9: 69,397,046 (GRCm39) Y317C probably damaging Het
Arhgef26 T C 3: 62,340,002 (GRCm39) S675P probably damaging Het
Bltp1 T A 3: 37,012,834 (GRCm39) probably null Het
Camk2d A G 3: 126,628,277 (GRCm39) N53S probably damaging Het
Carns1 A T 19: 4,215,782 (GRCm39) M800K possibly damaging Het
Ces1f A T 8: 93,996,767 (GRCm39) probably null Het
Chrne T A 11: 70,506,086 (GRCm39) D426V possibly damaging Het
Cntfr T C 4: 41,671,035 (GRCm39) T43A probably damaging Het
Cntn5 A T 9: 10,048,758 (GRCm39) C63* probably null Het
Col12a1 G A 9: 79,599,501 (GRCm39) T884I probably damaging Het
Dnah5 T C 15: 28,307,537 (GRCm39) probably null Het
Dnajc2 A T 5: 21,965,389 (GRCm39) S537R probably benign Het
Dnajc25 T C 4: 59,020,234 (GRCm39) I100T probably damaging Het
Ephx1 C A 1: 180,823,661 (GRCm39) G149C probably damaging Het
Fam163b G T 2: 27,002,698 (GRCm39) P100T probably damaging Het
Fbxl9 A G 8: 106,039,675 (GRCm39) probably null Het
Fibin A T 2: 110,192,848 (GRCm39) L98Q probably damaging Het
Fndc3b A T 3: 27,505,481 (GRCm39) L929H probably damaging Het
Frem1 T A 4: 82,918,410 (GRCm39) S512C probably damaging Het
Gm4922 T A 10: 18,659,829 (GRCm39) M298L probably benign Het
Gstm2 G A 3: 107,891,369 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,317,042 (GRCm39) probably null Het
Ibtk A C 9: 85,590,178 (GRCm39) L1026V probably benign Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Inpp4a T C 1: 37,432,037 (GRCm39) S146P probably damaging Het
Kcnab1 G T 3: 65,264,435 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,436 (GRCm39) S217P probably damaging Het
Mr1 T C 1: 155,008,277 (GRCm39) M233V probably benign Het
Ncoa2 G A 1: 13,218,584 (GRCm39) T1415I probably damaging Het
Oasl2 G A 5: 115,049,357 (GRCm39) D486N probably benign Het
Or1j14 A T 2: 36,418,258 (GRCm39) Y278F probably damaging Het
Or9a7 G A 6: 40,521,856 (GRCm39) T19I probably benign Het
Or9s27 T C 1: 92,516,688 (GRCm39) I212T possibly damaging Het
Pcnx4 T C 12: 72,588,587 (GRCm39) F132L probably damaging Het
Pde5a T A 3: 122,636,702 (GRCm39) L717Q probably damaging Het
Peli2 A T 14: 48,465,389 (GRCm39) probably benign Het
Phf14 A G 6: 11,962,657 (GRCm39) S435G probably damaging Het
Plekhg1 T A 10: 3,913,564 (GRCm39) H1095Q probably damaging Het
Plekhh2 A G 17: 84,893,907 (GRCm39) probably null Het
Plekho1 T G 3: 95,899,497 (GRCm39) N99H probably damaging Het
Plxnc1 T A 10: 94,742,395 (GRCm39) K457N probably benign Het
Ppp1r3a T C 6: 14,718,322 (GRCm39) E864G probably benign Het
Prkab2 T A 3: 97,574,715 (GRCm39) L237Q probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptger3 T A 3: 157,273,207 (GRCm39) C185S probably damaging Het
Ptprk T C 10: 28,230,709 (GRCm39) Y267H probably damaging Het
Pum2 A G 12: 8,794,654 (GRCm39) I715V probably benign Het
R3hdm1 T C 1: 128,114,573 (GRCm39) V518A probably damaging Het
Rab3d T C 9: 21,827,147 (GRCm39) I28V probably damaging Het
Rad54b T C 4: 11,606,272 (GRCm39) L560P probably damaging Het
Rgs20 A G 1: 5,140,370 (GRCm39) probably null Het
Sesn1 T A 10: 41,781,315 (GRCm39) L460H probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Slco6c1 T A 1: 96,990,201 (GRCm39) H663L probably benign Het
Snx13 T A 12: 35,132,926 (GRCm39) C63S probably benign Het
Spmip4 T A 6: 50,560,959 (GRCm39) D212V probably damaging Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Syncrip A G 9: 88,361,620 (GRCm39) probably benign Het
Taf15 A G 11: 83,395,579 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,444,368 (GRCm39) probably null Het
Tgm4 T A 9: 122,877,614 (GRCm39) C205* probably null Het
Tmem212 A T 3: 27,940,628 (GRCm39) L63Q possibly damaging Het
Tmem63a G A 1: 180,790,054 (GRCm39) probably null Het
Trpm5 C A 7: 142,636,298 (GRCm39) V525L probably benign Het
Ttn A G 2: 76,537,171 (GRCm39) L34919P probably damaging Het
Ttn T C 2: 76,694,619 (GRCm39) probably benign Het
Tuba4a T C 1: 75,194,069 (GRCm39) I4V possibly damaging Het
Ubr4 A G 4: 139,200,853 (GRCm39) D4679G possibly damaging Het
Usp2 T G 9: 44,003,445 (GRCm39) V448G probably damaging Het
Usp3 A G 9: 66,453,024 (GRCm39) probably null Het
Zfp341 T A 2: 154,470,721 (GRCm39) V246E 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTTCCAGAAGGCCGGATTGC -3'
(R):5'- CCAGAAGAAAGCCCTGGTTTG -3'

Sequencing Primer
(F):5'- GGATTGCCCAGCTTGAGTTCC -3'
(R):5'- CCAATTATGGTAGGCATATGAGC -3'
Posted On 2014-11-12