Incidental Mutation 'IGL02243:Rasgef1c'
ID 286051
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 # IGL02243
Quality Score
Status
Chromosome 11
Chromosomal Location 49791996-49871050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49848217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 69 (S69C)
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: S72C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: S72C

DomainStartEndE-ValueType
Pfam:RasGEF_N 40 141 2.4e-14 PFAM
RasGEF 199 450 4.54e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093141
SMART Domains Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374

DomainStartEndE-ValueType
Blast:RasGEFN 35 123 9e-30 BLAST
RasGEF 155 406 4.54e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093142
AA Change: S69C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: S69C

DomainStartEndE-ValueType
Pfam:RasGEF_N 38 138 8.5e-14 PFAM
RasGEF 196 447 4.54e-67 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Rasgef1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16