Incidental Mutation 'IGL03376:Rassf9'
ID420490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf9
Ensembl Gene ENSMUSG00000044921
Gene NameRas association (RalGDS/AF-6) domain family (N-terminal) member 9
SynonymsPamci
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03376
Quality Score
Status
Chromosome10
Chromosomal Location102512222-102549736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102545198 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 145 (N145S)
Ref Sequence ENSEMBL: ENSMUSP00000054767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055355] [ENSMUST00000219445]
Predicted Effect probably damaging
Transcript: ENSMUST00000055355
AA Change: N145S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: N145S

DomainStartEndE-ValueType
RA 23 119 5.33e-18 SMART
coiled coil region 261 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000219445
AA Change: N147S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature lethality, alopecia, lung defects, and abnormal skin morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1b2 T C 8: 69,102,159 probably benign Het
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Cmtr1 C T 17: 29,691,411 R497C probably benign Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Ikzf3 T A 11: 98,488,953 H163L probably damaging Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Slc30a8 C T 15: 52,306,457 R27* probably null Het
Tmco2 T A 4: 121,109,052 T36S probably benign Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Rassf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Rassf9 APN 10 102545633 missense probably benign 0.04
IGL02396:Rassf9 APN 10 102545693 missense possibly damaging 0.74
IGL02714:Rassf9 APN 10 102512563 missense possibly damaging 0.85
IGL02987:Rassf9 APN 10 102545248 missense possibly damaging 0.60
R0372:Rassf9 UTSW 10 102546011 missense possibly damaging 0.71
R0377:Rassf9 UTSW 10 102545649 missense probably benign 0.00
R1260:Rassf9 UTSW 10 102512585 critical splice donor site probably null
R1481:Rassf9 UTSW 10 102546034 missense probably benign 0.01
R1563:Rassf9 UTSW 10 102544960 missense probably damaging 0.97
R1894:Rassf9 UTSW 10 102544894 missense possibly damaging 0.92
R1913:Rassf9 UTSW 10 102544939 missense probably benign 0.04
R2115:Rassf9 UTSW 10 102544945 missense probably benign 0.02
R3149:Rassf9 UTSW 10 102544826 missense possibly damaging 0.85
R5072:Rassf9 UTSW 10 102545905 missense probably damaging 0.98
R5282:Rassf9 UTSW 10 102545344 missense probably damaging 1.00
R5804:Rassf9 UTSW 10 102545044 missense probably damaging 1.00
R6296:Rassf9 UTSW 10 102545753 missense probably damaging 1.00
R6662:Rassf9 UTSW 10 102546038 missense possibly damaging 0.90
R7719:Rassf9 UTSW 10 102545600 missense probably benign 0.00
Posted On2016-08-02