Incidental Mutation 'IGL02045:Rasgef1a'
ID184908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgef1a
Ensembl Gene ENSMUSG00000030134
Gene NameRasGEF domain family, member 1A
Synonyms6330404M18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02045
Quality Score
Status
Chromosome6
Chromosomal Location118011438-118091546 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118089443 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 470 (I470V)
Ref Sequence ENSEMBL: ENSMUSP00000145214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164960] [ENSMUST00000203482] [ENSMUST00000203804]
Predicted Effect probably benign
Transcript: ENSMUST00000164960
AA Change: I453V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: I453V

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 178 1.69e-3 SMART
RasGEF 218 470 7.23e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184597
Predicted Effect probably benign
Transcript: ENSMUST00000203482
AA Change: I461V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: I461V

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 178 1.69e-3 SMART
RasGEF 218 470 7.23e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203804
AA Change: I470V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: I470V

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 177 1.3e-5 SMART
low complexity region 184 199 N/A INTRINSIC
RasGEF 227 479 4.5e-54 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,240,660 H2044Q possibly damaging Het
Ankrd12 A T 17: 65,986,249 S730T probably benign Het
Ano9 A T 7: 141,102,469 N655K probably benign Het
Ap1ar A T 3: 127,815,649 Y108N probably damaging Het
Asap3 A G 4: 136,227,441 I55V probably benign Het
Barx2 T C 9: 31,858,798 T145A probably damaging Het
Camta1 T C 4: 151,073,985 probably null Het
Ces2e C T 8: 104,930,658 probably benign Het
Cflar T C 1: 58,752,744 I405T probably benign Het
Cyp51 A G 5: 4,083,247 S464P probably damaging Het
Ermard G A 17: 15,051,564 probably benign Het
Fam92b T A 8: 120,169,722 K174* probably null Het
Glb1l2 T C 9: 26,796,545 T49A probably benign Het
Gls A G 1: 52,219,515 V198A probably benign Het
Heatr5b A T 17: 78,808,426 I867N probably damaging Het
Ighv1-14 A T 12: 114,646,714 noncoding transcript Het
Iqsec1 T C 6: 90,664,069 K1022E probably damaging Het
Myo10 A G 15: 25,726,488 T299A probably benign Het
Nr2e3 A T 9: 59,949,008 M82K probably benign Het
Ntpcr A G 8: 125,745,452 probably benign Het
Olfr1424 T C 19: 12,058,889 T288A possibly damaging Het
Olfr385 A G 11: 73,589,232 C169R probably damaging Het
Olfr508 A G 7: 108,630,532 D180G probably damaging Het
Olfr605 A G 7: 103,442,952 L57P probably damaging Het
Olfr814 A T 10: 129,874,222 D178E probably benign Het
Prkcb A G 7: 122,590,167 D506G probably damaging Het
Rbm27 A G 18: 42,319,913 E514G possibly damaging Het
Rgs22 G A 15: 36,013,154 A1048V probably benign Het
Secisbp2l A G 2: 125,775,578 F60L possibly damaging Het
Six4 T C 12: 73,108,655 S505G probably benign Het
Skint1 T A 4: 112,025,530 V257E possibly damaging Het
Smad9 A G 3: 54,786,172 N174S possibly damaging Het
Smc2 A G 4: 52,462,914 N635D probably benign Het
Stradb T A 1: 58,989,778 I135N probably damaging Het
Syt12 T C 19: 4,447,734 T407A probably damaging Het
Tmc8 T A 11: 117,786,520 I322N probably damaging Het
Tnip1 A C 11: 54,911,539 *648G probably null Het
Ttc3 T C 16: 94,409,681 probably benign Het
Other mutations in Rasgef1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Rasgef1a APN 6 118088203 missense probably damaging 1.00
IGL01292:Rasgef1a APN 6 118080383 missense possibly damaging 0.51
IGL01457:Rasgef1a APN 6 118084545 missense probably benign 0.36
IGL02502:Rasgef1a APN 6 118080482 missense probably benign 0.00
IGL02902:Rasgef1a APN 6 118083107 missense probably benign 0.10
IGL03224:Rasgef1a APN 6 118089806 splice site probably benign
R2001:Rasgef1a UTSW 6 118089196 missense probably benign 0.01
R4477:Rasgef1a UTSW 6 118085475 missense possibly damaging 0.59
R4863:Rasgef1a UTSW 6 118089139 missense probably benign 0.00
R5422:Rasgef1a UTSW 6 118088134 missense probably damaging 1.00
R5862:Rasgef1a UTSW 6 118080444 missense probably benign 0.43
R5911:Rasgef1a UTSW 6 118084374 intron probably null
R5914:Rasgef1a UTSW 6 118080554 missense possibly damaging 0.89
R6788:Rasgef1a UTSW 6 118087213 missense possibly damaging 0.93
Posted On2014-05-07