Incidental Mutation 'IGL02892:Rtbdn'
ID363216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtbdn
Ensembl Gene ENSMUSG00000048617
Gene Nameretbindin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02892
Quality Score
Status
Chromosome8
Chromosomal Location84946991-84956603 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84955089 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 170 (R170C)
Ref Sequence ENSEMBL: ENSMUSP00000113982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065049] [ENSMUST00000067472] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000109740] [ENSMUST00000121880] [ENSMUST00000128972] [ENSMUST00000147812] [ENSMUST00000152378]
Predicted Effect probably benign
Transcript: ENSMUST00000065049
SMART Domains Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 7.1e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000067472
AA Change: R170C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070558
Gene: ENSMUSG00000048617
AA Change: R170C

DomainStartEndE-ValueType
Pfam:Folate_rec 27 203 2e-40 PFAM
low complexity region 224 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109736
SMART Domains Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 1.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109738
SMART Domains Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 5.5e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109740
AA Change: R170C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105362
Gene: ENSMUSG00000048617
AA Change: R170C

DomainStartEndE-ValueType
Pfam:Folate_rec 27 203 3.5e-42 PFAM
low complexity region 224 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121880
AA Change: R170C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113982
Gene: ENSMUSG00000048617
AA Change: R170C

DomainStartEndE-ValueType
Pfam:Folate_rec 27 203 3.5e-42 PFAM
low complexity region 224 234 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126029
Predicted Effect probably benign
Transcript: ENSMUST00000128972
SMART Domains Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:RNase_HII 57 268 1.4e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147812
SMART Domains Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 1.3e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152378
AA Change: R139C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132841
Gene: ENSMUSG00000048617
AA Change: R139C

DomainStartEndE-ValueType
Pfam:Folate_rec 2 172 2.8e-38 PFAM
low complexity region 193 203 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.] This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,604,997 L493* probably null Het
Adam32 T A 8: 24,878,711 probably benign Het
Alpk1 T C 3: 127,680,122 D744G possibly damaging Het
Arhgef12 A G 9: 43,000,972 V530A possibly damaging Het
Baz2b A T 2: 59,900,736 N2095K probably damaging Het
Btnl2 A T 17: 34,362,668 Q240L possibly damaging Het
Cd96 T C 16: 46,049,797 probably null Het
Cep350 G A 1: 155,868,806 T2089I possibly damaging Het
Chd9 T C 8: 90,976,915 probably benign Het
Cib4 C T 5: 30,544,707 probably benign Het
Cilp2 T C 8: 69,884,320 T280A probably benign Het
Coq5 T A 5: 115,294,817 probably benign Het
Cyth3 A G 5: 143,707,437 I339V possibly damaging Het
Dcaf7 T C 11: 106,046,692 V47A possibly damaging Het
Dcdc2c A G 12: 28,535,545 I151T probably benign Het
Defb7 T A 8: 19,497,662 F61Y probably benign Het
Diaph3 T A 14: 86,866,630 K773* probably null Het
Dmxl1 A G 18: 49,859,120 N311S probably damaging Het
Dnah7b G A 1: 46,119,298 R347H possibly damaging Het
Egflam C T 15: 7,289,796 V234I probably benign Het
Emilin3 C T 2: 160,909,149 V180M possibly damaging Het
Fam76b A T 9: 13,828,821 E50V probably null Het
Fat3 A T 9: 16,377,562 Y222N probably damaging Het
Grm7 A G 6: 111,254,020 N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 G172C probably damaging Het
Hmcn1 A C 1: 150,675,974 probably null Het
Hydin G A 8: 110,598,959 V4667M possibly damaging Het
Idh2 T C 7: 80,095,670 S408G probably benign Het
Kcng4 T C 8: 119,633,082 Q185R probably benign Het
Lamp3 A G 16: 19,676,052 V301A probably damaging Het
Lrrc23 T C 6: 124,774,436 N220S probably benign Het
Lrrc41 T A 4: 116,088,835 M249K possibly damaging Het
Ltbp4 T A 7: 27,310,649 D1162V probably damaging Het
Mlh1 T C 9: 111,252,969 I229V probably benign Het
Olfr108 T C 17: 37,446,034 L160P probably damaging Het
Plekhg2 T A 7: 28,362,917 D525V probably damaging Het
Plin4 T C 17: 56,105,108 K641R probably damaging Het
Plxnb2 A G 15: 89,161,222 probably null Het
Polr1a T C 6: 71,931,696 S502P possibly damaging Het
Prss16 A G 13: 22,003,050 V450A probably benign Het
Prss42 G A 9: 110,799,390 V201M probably damaging Het
Pus7 A T 5: 23,754,556 N322K probably damaging Het
Riok1 G T 13: 38,040,065 probably benign Het
Rmdn3 T A 2: 119,154,080 T64S probably benign Het
Rmnd5a T A 6: 71,414,814 M131L probably benign Het
Sesn3 T C 9: 14,314,734 probably null Het
Slc2a6 A G 2: 27,024,293 Y271H probably benign Het
Slc5a5 T G 8: 70,892,517 T49P probably damaging Het
Slc7a10 T C 7: 35,195,168 V84A possibly damaging Het
Slc9a4 A G 1: 40,584,044 T148A possibly damaging Het
Smg1 T A 7: 118,167,955 probably benign Het
Snx19 T A 9: 30,428,364 V266E probably damaging Het
Synm T A 7: 67,735,056 I511F probably damaging Het
Tango6 T A 8: 106,742,010 probably benign Het
Tie1 T A 4: 118,486,282 D128V probably damaging Het
Timeless T C 10: 128,244,251 L423P probably damaging Het
Tln1 A G 4: 43,555,679 L145P probably damaging Het
Tmem8 A G 17: 26,119,120 Y466C probably damaging Het
Trp53i13 A T 11: 77,508,295 D376E probably damaging Het
Ubr4 A T 4: 139,417,331 I1484F probably damaging Het
Unc13a C T 8: 71,649,910 V943M probably damaging Het
Usp50 T C 2: 126,769,902 K301R probably damaging Het
Vmn1r62 G T 7: 5,676,203 M294I probably benign Het
Vps39 A G 2: 120,323,171 probably benign Het
Vwa8 T A 14: 79,103,700 probably benign Het
Wdr27 A T 17: 14,876,176 W748R possibly damaging Het
Other mutations in Rtbdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03192:Rtbdn APN 8 84952655 missense probably benign 0.32
FR4342:Rtbdn UTSW 8 84956168 small insertion probably benign
FR4342:Rtbdn UTSW 8 84956178 small insertion probably benign
FR4589:Rtbdn UTSW 8 84956171 small insertion probably benign
FR4737:Rtbdn UTSW 8 84956161 small insertion probably benign
FR4737:Rtbdn UTSW 8 84956168 small insertion probably benign
FR4737:Rtbdn UTSW 8 84956176 small insertion probably benign
FR4737:Rtbdn UTSW 8 84956177 small insertion probably benign
R1581:Rtbdn UTSW 8 84955066 missense probably benign 0.01
R5057:Rtbdn UTSW 8 84955009 missense probably damaging 1.00
R6788:Rtbdn UTSW 8 84952674 missense probably null 1.00
R7570:Rtbdn UTSW 8 84952927 missense probably damaging 1.00
RF023:Rtbdn UTSW 8 84956166 small insertion probably benign
RF024:Rtbdn UTSW 8 84956179 small insertion probably benign
RF025:Rtbdn UTSW 8 84956175 small insertion probably benign
RF034:Rtbdn UTSW 8 84956175 small insertion probably benign
RF046:Rtbdn UTSW 8 84956179 small insertion probably benign
RF050:Rtbdn UTSW 8 84956170 small insertion probably benign
RF056:Rtbdn UTSW 8 84956170 small insertion probably benign
RF056:Rtbdn UTSW 8 84956172 small insertion probably benign
RF057:Rtbdn UTSW 8 84956166 small insertion probably benign
RF058:Rtbdn UTSW 8 84956172 small insertion probably benign
Posted On2015-12-18