Incidental Mutation 'IGL01606:Rtp4'
ID93409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtp4
Ensembl Gene ENSMUSG00000033355
Gene Namereceptor transporter protein 4
Synonyms5830458K16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01606
Quality Score
Status
Chromosome16
Chromosomal Location23520291-23614222 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23613254 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 179 (S179T)
Ref Sequence ENSEMBL: ENSMUSP00000147442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038423] [ENSMUST00000209422] [ENSMUST00000210901] [ENSMUST00000211349] [ENSMUST00000211569]
Predicted Effect probably benign
Transcript: ENSMUST00000038423
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041091
Gene: ENSMUSG00000033355
AA Change: S179T

DomainStartEndE-ValueType
zf-3CxxC 50 163 8.52e-52 SMART
low complexity region 175 197 N/A INTRINSIC
transmembrane domain 231 248 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209422
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000210901
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000211349
Predicted Effect probably benign
Transcript: ENSMUST00000211569
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Rtp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Rtp4 APN 16 23612954 missense probably benign 0.01
PIT4696001:Rtp4 UTSW 16 23613454 missense probably benign 0.23
R0049:Rtp4 UTSW 16 23612929 missense probably benign 0.04
R0049:Rtp4 UTSW 16 23612929 missense probably benign 0.04
R1694:Rtp4 UTSW 16 23613120 makesense probably null
R2060:Rtp4 UTSW 16 23612940 missense probably damaging 1.00
R2088:Rtp4 UTSW 16 23613213 missense possibly damaging 0.86
R4232:Rtp4 UTSW 16 23613083 missense possibly damaging 0.58
R4493:Rtp4 UTSW 16 23610077 missense probably benign 0.23
R4646:Rtp4 UTSW 16 23610040 missense probably benign 0.20
Posted On2013-12-09