Incidental Mutation 'R2128:Fgd1'
ID 227792
Institutional Source Beutler Lab
Gene Symbol Fgd1
Ensembl Gene ENSMUSG00000025265
Gene Name FYVE, RhoGEF and PH domain containing 1
Synonyms ZFYVE3, faciogenital dysplasia
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2128 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 149829146-149872517 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 149869213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026295] [ENSMUST00000026296] [ENSMUST00000112683] [ENSMUST00000112685] [ENSMUST00000112685] [ENSMUST00000166010]
AlphaFold P52734
Predicted Effect probably benign
Transcript: ENSMUST00000026295
SMART Domains Protein: ENSMUSP00000026295
Gene: ENSMUSG00000025264

DomainStartEndE-ValueType
Pfam:WGG 12 93 7e-30 PFAM
low complexity region 133 152 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000026296
SMART Domains Protein: ENSMUSP00000026296
Gene: ENSMUSG00000025265

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
low complexity region 152 165 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
low complexity region 202 213 N/A INTRINSIC
low complexity region 230 257 N/A INTRINSIC
low complexity region 282 294 N/A INTRINSIC
low complexity region 340 353 N/A INTRINSIC
RhoGEF 376 559 5.24e-67 SMART
PH 590 690 1.88e-18 SMART
FYVE 721 790 4.2e-27 SMART
PH 821 922 2.56e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112683
SMART Domains Protein: ENSMUSP00000108303
Gene: ENSMUSG00000025264

DomainStartEndE-ValueType
Pfam:WGG 12 93 5.6e-30 PFAM
low complexity region 135 149 N/A INTRINSIC
low complexity region 163 174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112685
SMART Domains Protein: ENSMUSP00000108305
Gene: ENSMUSG00000025265

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
low complexity region 61 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
low complexity region 171 184 N/A INTRINSIC
RhoGEF 207 390 5.24e-67 SMART
PH 421 521 1.88e-18 SMART
FYVE 552 621 4.2e-27 SMART
PH 652 753 2.56e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112685
SMART Domains Protein: ENSMUSP00000108305
Gene: ENSMUSG00000025265

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
low complexity region 61 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
low complexity region 171 184 N/A INTRINSIC
RhoGEF 207 390 5.24e-67 SMART
PH 421 521 1.88e-18 SMART
FYVE 552 621 4.2e-27 SMART
PH 652 753 2.56e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125620
Predicted Effect probably benign
Transcript: ENSMUST00000166010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166689
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of family of Rho-specific guanine nucleotide exchange factors. Rho-specific guanine nucleotide exchange factors catalyze the exchange of GDP for GTP and activate small GTPases, which function as molecular switches in signaling. This protein specifically binds cell division cycle 42, a Rho (Ras homology) GTPase. Investigations in mouse suggest that this protein is important for skeletal mineralization and for regulating the actin cytoskeleton. In humans, mutations in this gene are associated with faciogenital dysplasia, also known as Aarskog-Scott syndrome. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P probably benign Het
Other mutations in Fgd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Fgd1 APN X 149,855,440 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGTCATGTGTAGCAGGGACAG -3'
(R):5'- CACTTTCTGGGGTGCAATCTG -3'

Sequencing Primer
(F):5'- CTGGGTCTAGAACTCCAGGCTAAG -3'
(R):5'- GTGCAATCTGTAGCCCTACTAGCAG -3'
Posted On 2014-09-17