Incidental Mutation 'IGL02000:Rassf4'
ID183006
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: 0.109) question?
Stock #IGL02000
Quality Score
Status
Chromosome6
Chromosomal Location116633008-116673952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116645972 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
Ref Sequence ENSEMBL: ENSMUSP00000145076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000067354] [ENSMUST00000178241] [ENSMUST00000203029] [ENSMUST00000204203] [ENSMUST00000204555] [ENSMUST00000204576]
Predicted Effect probably benign
Transcript: ENSMUST00000035842
AA Change: E96G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: E96G

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 probably benign
Transcript: ENSMUST00000067354
SMART Domains Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489

DomainStartEndE-ValueType
Pfam:DEPP 25 205 1.1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178241
SMART Domains Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489

DomainStartEndE-ValueType
Pfam:DEPP 25 205 5.5e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184219
Predicted Effect probably benign
Transcript: ENSMUST00000203029
AA Change: E96G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: E96G

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
AA Change: E26G

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204313
Predicted Effect probably benign
Transcript: ENSMUST00000204555
SMART Domains Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489

DomainStartEndE-ValueType
Pfam:DEPP 25 70 3e-22 PFAM
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Rassf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Rassf4 APN 6 116645128 missense possibly damaging 0.47
IGL01132:Rassf4 APN 6 116659607 splice site probably benign
IGL01637:Rassf4 APN 6 116641690 missense probably damaging 1.00
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
R7981:Rassf4 UTSW 6 116640257 missense probably damaging 1.00
Posted On2014-05-07