Incidental Mutation 'IGL01139:Rassf6'
ID51183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf6
Ensembl Gene ENSMUSG00000029370
Gene NameRas association (RalGDS/AF-6) domain family member 6
Synonyms1600016B17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01139
Quality Score
Status
Chromosome5
Chromosomal Location90603076-90640657 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 90608966 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 31 (*31W)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031317] [ENSMUST00000202704] [ENSMUST00000202784]
Predicted Effect probably benign
Transcript: ENSMUST00000031317
AA Change: T138A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: T138A

DomainStartEndE-ValueType
RA 188 278 2.67e-9 SMART
Pfam:Nore1-SARAH 290 329 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202704
AA Change: T138A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: T138A

DomainStartEndE-ValueType
RA 188 278 2.67e-9 SMART
Pfam:Nore1-SARAH 290 329 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202784
SMART Domains Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370

DomainStartEndE-ValueType
low complexity region 126 135 N/A INTRINSIC
RA 175 265 2.67e-9 SMART
Pfam:Nore1-SARAH 277 316 8.6e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202807
AA Change: *31W
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Rassf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Rassf6 APN 5 90604140 missense probably damaging 1.00
IGL00819:Rassf6 APN 5 90604071 missense probably benign 0.03
IGL03114:Rassf6 APN 5 90608790 splice site probably benign
R1956:Rassf6 UTSW 5 90615871 nonsense probably null
R2167:Rassf6 UTSW 5 90603938 missense probably damaging 1.00
R2351:Rassf6 UTSW 5 90631559 missense probably benign 0.05
R2877:Rassf6 UTSW 5 90606805 missense probably damaging 1.00
R3943:Rassf6 UTSW 5 90604326 missense possibly damaging 0.49
R3944:Rassf6 UTSW 5 90604326 missense possibly damaging 0.49
R4131:Rassf6 UTSW 5 90609787 missense probably damaging 1.00
R5134:Rassf6 UTSW 5 90604366 critical splice acceptor site probably null
R5153:Rassf6 UTSW 5 90606840 missense possibly damaging 0.81
R5633:Rassf6 UTSW 5 90604118 missense possibly damaging 0.84
R5994:Rassf6 UTSW 5 90617768 missense probably damaging 1.00
R6000:Rassf6 UTSW 5 90603877 missense probably damaging 1.00
R6746:Rassf6 UTSW 5 90609774 missense possibly damaging 0.80
R7038:Rassf6 UTSW 5 90609725 missense probably benign 0.13
R7190:Rassf6 UTSW 5 90606807 missense probably damaging 1.00
X0017:Rassf6 UTSW 5 90606789 missense probably damaging 1.00
Posted On2013-06-21