Incidental Mutation 'IGL03163:Rasgef1c'
ID411502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgef1c
Ensembl Gene ENSMUSG00000020374
Gene NameRasGEF domain family, member 1C
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03163
Quality Score
Status
Chromosome11
Chromosomal Location49901835-49980994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49971373 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 363 (V363A)
Ref Sequence ENSEMBL: ENSMUSP00000090829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063444] [ENSMUST00000093141] [ENSMUST00000093142]
Predicted Effect probably benign
Transcript: ENSMUST00000063444
AA Change: V366A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: V366A

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: V322A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: V322A

DomainStartEndE-ValueType
Blast:RasGEFN 35 123 9e-30 BLAST
RasGEF 155 406 4.54e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093142
AA Change: V363A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: V363A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,181,417 D393V probably benign Het
Amz2 C A 11: 109,428,925 Q46K probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Atxn1l T C 8: 109,732,385 N415S probably damaging Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Khdrbs1 T C 4: 129,725,715 E211G probably benign Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rangap1 A T 15: 81,716,600 N194K probably damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Stra6l T C 4: 45,881,455 I439T probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Rasgef1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Rasgef1c APN 11 49957390 missense possibly damaging 0.57
IGL02983:Rasgef1c APN 11 49957049 missense possibly damaging 0.95
IGL03076:Rasgef1c APN 11 49970246 missense probably damaging 1.00
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
X0027:Rasgef1c UTSW 11 49969502 missense probably damaging 1.00
Posted On2016-08-02