Incidental Mutation 'IGL03076:Rasgef1c'
ID 417694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgef1c
Ensembl Gene ENSMUSG00000020374
Gene Name RasGEF domain family, member 1C
Synonyms 9130006A14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL03076
Quality Score
Status
Chromosome 11
Chromosomal Location 49791996-49871050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49861073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 302 (T302K)
Ref Sequence ENSEMBL: ENSMUSP00000090828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063444] [ENSMUST00000093141] [ENSMUST00000093142]
AlphaFold Q9D300
Predicted Effect possibly damaging
Transcript: ENSMUST00000063444
AA Change: T346K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: T346K

DomainStartEndE-ValueType
Pfam:RasGEF_N 40 141 2.4e-14 PFAM
RasGEF 199 450 4.54e-67 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000093141
AA Change: T302K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: T302K

DomainStartEndE-ValueType
Blast:RasGEFN 35 123 9e-30 BLAST
RasGEF 155 406 4.54e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093142
AA Change: T343K

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: T343K

DomainStartEndE-ValueType
Pfam:RasGEF_N 38 138 8.5e-14 PFAM
RasGEF 196 447 4.54e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109172
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,215,917 (GRCm39) V39A probably damaging Het
Bcl2 A G 1: 106,471,037 (GRCm39) V223A probably benign Het
Bsn T A 9: 107,982,581 (GRCm39) Y3724F unknown Het
Chd8 T C 14: 52,463,619 (GRCm39) probably benign Het
Cyp2a5 T C 7: 26,535,299 (GRCm39) V87A probably damaging Het
Dnah10 T C 5: 124,807,226 (GRCm39) probably null Het
Dync1h1 C T 12: 110,624,327 (GRCm39) R3652W probably damaging Het
Epha5 T A 5: 84,479,549 (GRCm39) T152S probably damaging Het
Flnb T G 14: 7,901,988 (GRCm38) N950K probably benign Het
Fmn1 A G 2: 113,414,437 (GRCm39) D1128G probably damaging Het
Fndc3a T A 14: 72,793,908 (GRCm39) T922S possibly damaging Het
Fsip2 A T 2: 82,812,482 (GRCm39) N2934Y possibly damaging Het
Gnptab T C 10: 88,276,151 (GRCm39) V1146A possibly damaging Het
Gsg1l A G 7: 125,522,665 (GRCm39) F188L probably benign Het
Kmt2c C A 5: 25,504,149 (GRCm39) E309* probably null Het
Krt71 C T 15: 101,643,032 (GRCm39) R492H probably benign Het
Lama1 T A 17: 68,023,794 (GRCm39) V63E possibly damaging Het
Lrch3 T C 16: 32,802,223 (GRCm39) V58A possibly damaging Het
Lrrc8b T A 5: 105,629,415 (GRCm39) L587Q probably damaging Het
Lrrtm1 T C 6: 77,221,568 (GRCm39) C342R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Mdn1 T A 4: 32,735,564 (GRCm39) V3410D probably damaging Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or7e175 T C 9: 20,049,023 (GRCm39) S204P probably benign Het
Pigt A G 2: 164,339,585 (GRCm39) E36G probably damaging Het
Plxnb1 T A 9: 108,935,970 (GRCm39) V1120D probably damaging Het
Rapgef6 T C 11: 54,516,793 (GRCm39) L350P probably damaging Het
Riox2 C A 16: 59,311,575 (GRCm39) A386D possibly damaging Het
Semp2l1 A G 1: 32,584,626 (GRCm39) I428T probably damaging Het
Slc12a2 T C 18: 58,059,469 (GRCm39) probably benign Het
Trim24 T A 6: 37,942,567 (GRCm39) S992R probably damaging Het
Trpc3 T C 3: 36,694,804 (GRCm39) N717D probably damaging Het
Vwa5b1 T C 4: 138,327,499 (GRCm39) D359G probably damaging Het
Wapl A G 14: 34,414,046 (GRCm39) T303A probably benign Het
Zfp128 A G 7: 12,618,636 (GRCm39) T45A possibly damaging Het
Zfp280d T C 9: 72,219,944 (GRCm39) S240P probably damaging Het
Other mutations in Rasgef1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Rasgef1c APN 11 49,848,217 (GRCm39) missense possibly damaging 0.57
IGL02983:Rasgef1c APN 11 49,847,876 (GRCm39) missense possibly damaging 0.95
IGL03163:Rasgef1c APN 11 49,862,200 (GRCm39) missense possibly damaging 0.96
R0324:Rasgef1c UTSW 11 49,852,057 (GRCm39) critical splice donor site probably null
R1955:Rasgef1c UTSW 11 49,866,542 (GRCm39) missense possibly damaging 0.67
R4204:Rasgef1c UTSW 11 49,849,535 (GRCm39) missense probably benign 0.00
R4705:Rasgef1c UTSW 11 49,869,294 (GRCm39) missense probably benign 0.42
R4952:Rasgef1c UTSW 11 49,870,339 (GRCm39) missense probably damaging 0.99
R5084:Rasgef1c UTSW 11 49,860,332 (GRCm39) missense probably damaging 1.00
R5121:Rasgef1c UTSW 11 49,851,256 (GRCm39) missense probably damaging 1.00
R5564:Rasgef1c UTSW 11 49,847,934 (GRCm39) missense probably benign 0.09
R5801:Rasgef1c UTSW 11 49,860,883 (GRCm39) missense probably damaging 1.00
R5812:Rasgef1c UTSW 11 49,847,970 (GRCm39) missense probably benign 0.01
R6601:Rasgef1c UTSW 11 49,862,246 (GRCm39) missense probably damaging 0.99
R7751:Rasgef1c UTSW 11 49,861,120 (GRCm39) missense probably damaging 0.99
R8112:Rasgef1c UTSW 11 49,858,228 (GRCm39) missense probably damaging 1.00
R8498:Rasgef1c UTSW 11 49,862,248 (GRCm39) missense probably damaging 1.00
R9681:Rasgef1c UTSW 11 49,861,040 (GRCm39) missense probably damaging 1.00
X0027:Rasgef1c UTSW 11 49,860,329 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02