Incidental Mutation 'IGL01487:Rapgefl1'
ID88779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgefl1
Ensembl Gene ENSMUSG00000038020
Gene NameRap guanine nucleotide exchange factor (GEF)-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01487
Quality Score
Status
Chromosome11
Chromosomal Location98836785-98853697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98847135 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 392 (H392Y)
Ref Sequence ENSEMBL: ENSMUSP00000103103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107479]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000037640
Predicted Effect probably damaging
Transcript: ENSMUST00000107479
AA Change: H392Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103103
Gene: ENSMUSG00000038020
AA Change: H392Y

DomainStartEndE-ValueType
low complexity region 22 49 N/A INTRINSIC
low complexity region 50 65 N/A INTRINSIC
low complexity region 70 100 N/A INTRINSIC
low complexity region 108 133 N/A INTRINSIC
low complexity region 169 180 N/A INTRINSIC
RasGEF 420 661 2.39e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139889
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,839,449 V121A probably damaging Het
Carf A G 1: 60,109,379 H17R probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Ctsm C A 13: 61,539,069 R3L probably benign Het
Dnah3 G A 7: 119,965,530 Q2626* probably null Het
Dpp3 C T 19: 4,913,892 V587I probably benign Het
Fank1 A G 7: 133,879,909 T245A probably damaging Het
Golga5 A G 12: 102,495,696 probably benign Het
Hoxb9 C T 11: 96,274,788 Q228* probably null Het
Invs A G 4: 48,398,136 I441V probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Psd3 T C 8: 67,697,114 E1243G probably benign Het
Ropn1 T C 16: 34,678,469 V209A probably damaging Het
Scap G A 9: 110,377,734 probably null Het
Scn5a A G 9: 119,562,623 M1T probably null Het
Serpinb11 A T 1: 107,379,838 Y333F probably benign Het
Sf3b3 A G 8: 110,817,660 Y783H probably benign Het
Slc4a4 A G 5: 89,228,856 M990V probably benign Het
Syt3 G T 7: 44,390,999 V219F possibly damaging Het
Tmtc4 A G 14: 122,926,031 L647S probably benign Het
Other mutations in Rapgefl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Rapgefl1 APN 11 98849232 missense probably damaging 1.00
IGL03048:Rapgefl1 UTSW 11 98837164 missense possibly damaging 0.96
R1807:Rapgefl1 UTSW 11 98845989 critical splice donor site probably null
R1862:Rapgefl1 UTSW 11 98842209 missense probably benign
R4078:Rapgefl1 UTSW 11 98849977 missense probably benign 0.34
R4079:Rapgefl1 UTSW 11 98849977 missense probably benign 0.34
R4869:Rapgefl1 UTSW 11 98851109 missense probably damaging 1.00
R5994:Rapgefl1 UTSW 11 98850160 missense probably benign 0.06
R6275:Rapgefl1 UTSW 11 98851120 missense probably damaging 1.00
R6930:Rapgefl1 UTSW 11 98847121 missense probably damaging 1.00
R7138:Rapgefl1 UTSW 11 98847074 critical splice acceptor site probably null
R7432:Rapgefl1 UTSW 11 98851114 missense probably damaging 1.00
R7516:Rapgefl1 UTSW 11 98846134 missense probably benign 0.12
R7761:Rapgefl1 UTSW 11 98837659 missense probably benign 0.05
R7775:Rapgefl1 UTSW 11 98851154 missense probably damaging 1.00
R7824:Rapgefl1 UTSW 11 98851154 missense probably damaging 1.00
R8018:Rapgefl1 UTSW 11 98840340 critical splice donor site probably null
Z1088:Rapgefl1 UTSW 11 98845895 missense probably damaging 0.99
Z1176:Rapgefl1 UTSW 11 98845981 missense probably damaging 0.99
Posted On2013-11-18