Incidental Mutation 'R5812:Rasgef1c'
ID 447566
Institutional Source Beutler Lab
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 # R5812 (G1)
Quality Score 209
Status Not validated
Chromosome 11
Chromosomal Location 49791996-49871050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49847970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000090829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063444] [ENSMUST00000093141] [ENSMUST00000093142]
AlphaFold Q9D300
Predicted Effect probably benign
Transcript: ENSMUST00000063444
AA Change: D38G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: D38G

DomainStartEndE-ValueType
Pfam:RasGEF_N 40 141 2.4e-14 PFAM
RasGEF 199 450 4.54e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093141
AA Change: D35G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: D35G

DomainStartEndE-ValueType
Blast:RasGEFN 35 123 9e-30 BLAST
RasGEF 155 406 4.54e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093142
AA Change: D35G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: D35G

DomainStartEndE-ValueType
Pfam:RasGEF_N 38 138 8.5e-14 PFAM
RasGEF 196 447 4.54e-67 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,882,299 (GRCm39) S9P probably damaging Het
Aadacl2fm2 T A 3: 59,654,693 (GRCm39) Y176N probably damaging Het
Acsl5 G A 19: 55,283,268 (GRCm39) V615I probably benign Het
Ankk1 T C 9: 49,338,153 (GRCm39) K47E probably benign Het
Ankrd11 A T 8: 123,620,544 (GRCm39) probably null Het
Bcl9l T C 9: 44,417,941 (GRCm39) V593A probably benign Het
Cadps T C 14: 12,376,685 (GRCm38) I1271V probably benign Het
Ccdc125 T C 13: 100,820,812 (GRCm39) W152R probably damaging Het
Cep192 T C 18: 67,984,808 (GRCm39) V1606A possibly damaging Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cxxc5 T A 18: 35,992,109 (GRCm39) V170E probably damaging Het
Defb6 C T 8: 19,278,110 (GRCm39) R61C possibly damaging Het
Dnah10 T A 5: 124,824,810 (GRCm39) N655K probably benign Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Gli1 C T 10: 127,173,284 (GRCm39) G125S probably damaging Het
Igkv14-126 A T 6: 67,873,424 (GRCm39) I51F possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jtb T C 3: 90,141,284 (GRCm39) S87P probably benign Het
Kdm6b A T 11: 69,296,755 (GRCm39) I504N probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Marchf4 T C 1: 72,468,076 (GRCm39) T319A probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Nt5e T C 9: 88,251,108 (GRCm39) V459A probably damaging Het
Ogdhl A G 14: 32,054,822 (GRCm39) K257E probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2g25 A G 17: 37,970,630 (GRCm39) L198P probably damaging Het
Osmr A T 15: 6,866,540 (GRCm39) V378D probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pdzd7 G T 19: 45,025,310 (GRCm39) T395K probably damaging Het
Rbm19 T C 5: 120,279,642 (GRCm39) F770L probably damaging Het
Rit2 C A 18: 31,108,514 (GRCm39) C157F probably damaging Het
Slc22a22 A G 15: 57,119,869 (GRCm39) probably null Het
Slc8b1 T C 5: 120,651,403 (GRCm39) probably null Het
Speer2 C A 16: 69,655,783 (GRCm39) R14S possibly damaging Het
Tas2r105 C A 6: 131,663,836 (GRCm39) L197F possibly damaging Het
Tmprss11b T A 5: 86,812,957 (GRCm39) H113L possibly damaging Het
Ttbk2 G A 2: 120,653,040 (GRCm39) P64S probably damaging Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vps13c T A 9: 67,889,777 (GRCm39) probably benign Het
Zbtb39 T A 10: 127,577,429 (GRCm39) M1K probably null 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
IGL03076:Rasgef1c APN 11 49,861,073 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGATCACTGAACAAAAGTGTGG -3'
(R):5'- ATGTGTCATCAGCCTGACCC -3'

Sequencing Primer
(F):5'- CAGTCAGAGGCATAGTTCTCCAG -3'
(R):5'- GTCATCAGCCTGACCCGACTC -3'
Posted On 2016-12-15