Incidental Mutation 'IGL00482:Rassf4'
ID6336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf4
Ensembl Gene ENSMUSG00000042129
Gene NameRas association (RalGDS/AF-6) domain family member 4
Synonyms3830411C14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL00482
Quality Score
Status
Chromosome6
Chromosomal Location116633008-116673952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116645128 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 168 (F168L)
Ref Sequence ENSEMBL: ENSMUSP00000144786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000203029] [ENSMUST00000204203] [ENSMUST00000204576]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035842
AA Change: F168L

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: F168L

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 1.36e-15 SMART
Pfam:Nore1-SARAH 276 315 1.7e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184219
Predicted Effect possibly damaging
Transcript: ENSMUST00000203029
AA Change: F168L

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: F168L

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 8.7e-18 SMART
Pfam:Nore1-SARAH 276 303 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203634
Predicted Effect probably benign
Transcript: ENSMUST00000204203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204313
Predicted Effect probably benign
Transcript: ENSMUST00000204576
SMART Domains Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,200,289 T722A probably damaging Het
Akr1b10 G T 6: 34,388,902 probably benign Het
Amy1 G T 3: 113,556,132 T463K probably damaging Het
Arid4b T C 13: 14,191,134 probably benign Het
Arl2 A G 19: 6,141,052 L17P probably damaging Het
C2cd2 T C 16: 97,870,220 E493G probably damaging Het
Cdk19 A G 10: 40,469,648 E239G possibly damaging Het
Cit A G 5: 115,938,755 D719G probably damaging Het
Commd3 T C 2: 18,673,928 V58A possibly damaging Het
Cyp2c29 A C 19: 39,325,023 D360A probably damaging Het
Eps8 A G 6: 137,505,479 Y492H probably benign Het
Gk A G X: 85,760,601 L78P possibly damaging Het
Gm5884 A T 6: 128,646,203 noncoding transcript Het
Lat2 A T 5: 134,606,776 probably null Het
Lrrc4c C A 2: 97,630,385 S452* probably null Het
Ntsr2 T C 12: 16,659,848 C377R probably damaging Het
Padi3 A C 4: 140,803,624 M29R possibly damaging Het
Pcdh9 A G 14: 93,326,694 S1067P probably damaging Het
Prrc2a T C 17: 35,154,983 D1462G probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Siglec1 C T 2: 131,079,325 R642Q probably benign Het
Snrnp200 T G 2: 127,230,135 V1214G possibly damaging Het
Sorcs3 G A 19: 48,603,864 G323S probably benign Het
Spidr A G 16: 16,114,969 V149A possibly damaging Het
Stat4 A T 1: 52,074,697 I189F probably benign Het
Tep1 T C 14: 50,843,184 Y1387C probably damaging Het
Tmprss9 G A 10: 80,894,428 probably null Het
Other mutations in Rassf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Rassf4 APN 6 116659607 splice site probably benign
IGL01637:Rassf4 APN 6 116641690 missense probably damaging 1.00
IGL02000:Rassf4 APN 6 116645972 missense probably benign 0.20
IGL02748:Rassf4 APN 6 116639457 missense possibly damaging 0.93
IGL02976:Rassf4 APN 6 116638248 missense probably damaging 0.96
IGL03394:Rassf4 APN 6 116641747 missense probably damaging 1.00
R0573:Rassf4 UTSW 6 116647555 splice site probably benign
R0599:Rassf4 UTSW 6 116645936 missense probably damaging 1.00
R1741:Rassf4 UTSW 6 116639489 missense probably damaging 1.00
R1750:Rassf4 UTSW 6 116640267 missense probably damaging 1.00
R2117:Rassf4 UTSW 6 116645127 missense possibly damaging 0.86
R2369:Rassf4 UTSW 6 116638297 missense probably damaging 0.97
R2916:Rassf4 UTSW 6 116641740 missense probably damaging 1.00
R2918:Rassf4 UTSW 6 116641740 missense probably damaging 1.00
R4829:Rassf4 UTSW 6 116645142 missense possibly damaging 0.80
R5716:Rassf4 UTSW 6 116661867 missense probably benign 0.01
R6769:Rassf4 UTSW 6 116641472 missense possibly damaging 0.95
R7304:Rassf4 UTSW 6 116640317 missense probably damaging 0.99
Posted On2012-04-20