Incidental Mutation 'R5804:Rassf9'
ID448413
Institutional Source Beutler Lab
Gene Symbol Rassf9
Ensembl Gene ENSMUSG00000044921
Gene NameRas association (RalGDS/AF-6) domain family (N-terminal) member 9
SynonymsPamci
MMRRC Submission 043211-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #R5804 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location102512222-102549736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102545044 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 96 (I96F)
Ref Sequence ENSEMBL: ENSMUSP00000151843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055355] [ENSMUST00000219445]
Predicted Effect probably damaging
Transcript: ENSMUST00000055355
AA Change: I94F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: I94F

DomainStartEndE-ValueType
RA 23 119 5.33e-18 SMART
coiled coil region 261 291 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219445
AA Change: I96F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A G 11: 101,990,814 N112S probably damaging Het
Abat A T 16: 8,578,236 R19* probably null Het
Abcb9 A G 5: 124,080,055 M406T probably benign Het
Ager A G 17: 34,598,183 E32G probably damaging Het
Cdk10 T A 8: 123,228,840 probably null Het
Ctsl A T 13: 64,366,488 Y259N probably damaging Het
Ctu2 T C 8: 122,481,226 probably null Het
Dse T A 10: 34,153,379 I572F possibly damaging Het
Flt1 A T 5: 147,580,437 probably null Het
Gatm T A 2: 122,602,602 Y193F probably benign Het
Gpaa1 T C 15: 76,332,626 F170S probably damaging Het
Grm3 A G 5: 9,570,155 L363P probably benign Het
Heatr5b G A 17: 78,831,522 P64S probably damaging Het
Hfm1 A G 5: 106,878,589 probably null Het
Hivep2 A C 10: 14,133,775 K1725N probably benign Het
Hmcn1 A T 1: 150,674,347 C2695* probably null Het
Hmgcr G A 13: 96,666,187 T68M probably damaging Het
Igsf21 A T 4: 140,028,074 D423E possibly damaging Het
Jag1 T C 2: 137,088,204 N751S probably benign Het
Klrc2 A T 6: 129,660,473 N28K possibly damaging Het
Lrrc8c A T 5: 105,579,557 D29V possibly damaging Het
Mtcl1 A C 17: 66,343,137 S1329A probably benign Het
Nin C T 12: 70,045,601 V645I possibly damaging Het
Olfr1006 T A 2: 85,674,338 D271V probably damaging Het
Olfr1262 T C 2: 90,002,988 I194T possibly damaging Het
Olfr283 T A 15: 98,378,334 M259L probably benign Het
Olfr640 T C 7: 104,022,232 I29V probably benign Het
Pfpl A T 19: 12,429,663 H426L probably benign Het
Poteg A G 8: 27,456,798 D238G probably damaging Het
Psen1 T C 12: 83,731,700 F386L probably damaging Het
Robo1 T C 16: 73,043,189 probably null Het
Slc16a4 A T 3: 107,298,964 M117L probably benign Het
Slc4a8 A G 15: 100,791,625 N372S possibly damaging Het
Stmn4 G A 14: 66,356,299 G47D probably benign Het
Tex26 A G 5: 149,463,147 N137S possibly damaging Het
Ttn T A 2: 76,916,819 I4629F probably benign Het
Ubash3a G A 17: 31,208,232 probably null Het
Ube2cbp T C 9: 86,425,348 I233V probably benign Het
Utrn T A 10: 12,421,625 T680S probably damaging Het
Vps13d G A 4: 145,100,070 T2846I probably benign Het
Zbtb22 TGGACCCGGGAC TGGACCCGGGACCCGGGAC 17: 33,918,619 probably null Het
Zfp41 C T 15: 75,618,708 P170S probably damaging 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
IGL03376:Rassf9 APN 10 102545198 missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TGTCTGCGGATTAACTAAACGC -3'
(R):5'- TCCTGCCTAATTTTGGCCAG -3'

Sequencing Primer
(F):5'- CACCACCTCCATCGATGTTATCCAG -3'
(R):5'- CCTAATTTTGGCCAGTTTCCGGAAG -3'
Posted On2016-12-15