Incidental Mutation 'IGL02983:Rasgef1c'
ID 406637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgef1c
Ensembl Gene ENSMUSG00000020374
Gene Name RasGEF domain family, member 1C
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02983
Quality Score
Status
Chromosome 11
Chromosomal Location 49901835-49980994 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49957049 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 4 (T4A)
Ref Sequence ENSEMBL: ENSMUSP00000090828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063444] [ENSMUST00000093141] [ENSMUST00000093142]
AlphaFold Q9D300
Predicted Effect probably benign
Transcript: ENSMUST00000063444
AA Change: T7A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: T7A

DomainStartEndE-ValueType
Pfam:RasGEF_N 40 141 2.4e-14 PFAM
RasGEF 199 450 4.54e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093141
AA Change: T4A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: T4A

DomainStartEndE-ValueType
Blast:RasGEFN 35 123 9e-30 BLAST
RasGEF 155 406 4.54e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093142
AA Change: T4A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: T4A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Rasgef1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Rasgef1c APN 11 49957390 missense possibly damaging 0.57
IGL03076:Rasgef1c APN 11 49970246 missense probably damaging 1.00
IGL03163:Rasgef1c APN 11 49971373 missense possibly damaging 0.96
R0324:Rasgef1c UTSW 11 49961230 critical splice donor site probably null
R1955:Rasgef1c UTSW 11 49975715 missense possibly damaging 0.67
R4204:Rasgef1c UTSW 11 49958708 missense probably benign 0.00
R4705:Rasgef1c UTSW 11 49978467 missense probably benign 0.42
R4952:Rasgef1c UTSW 11 49979512 missense probably damaging 0.99
R5084:Rasgef1c UTSW 11 49969505 missense probably damaging 1.00
R5121:Rasgef1c UTSW 11 49960429 missense probably damaging 1.00
R5564:Rasgef1c UTSW 11 49957107 missense probably benign 0.09
R5801:Rasgef1c UTSW 11 49970056 missense probably damaging 1.00
R5812:Rasgef1c UTSW 11 49957143 missense probably benign 0.01
R6601:Rasgef1c UTSW 11 49971419 missense probably damaging 0.99
R7751:Rasgef1c UTSW 11 49970293 missense probably damaging 0.99
R8112:Rasgef1c UTSW 11 49967401 missense probably damaging 1.00
R8498:Rasgef1c UTSW 11 49971421 missense probably damaging 1.00
X0027:Rasgef1c UTSW 11 49969502 missense probably damaging 1.00
Posted On 2016-08-02