Incidental Mutation 'IGL02313:Rita1'
ID287910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rita1
Ensembl Gene ENSMUSG00000029600
Gene NameRBPJ interacting and tubulin associated 1
Synonyms1110008J03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL02313
Quality Score
Status
Chromosome5
Chromosomal Location120594305-120612589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 120609793 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 147 (A147T)
Ref Sequence ENSEMBL: ENSMUSP00000136946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000031599] [ENSMUST00000069259] [ENSMUST00000094391] [ENSMUST00000111884] [ENSMUST00000140554] [ENSMUST00000156356] [ENSMUST00000177800]
Predicted Effect probably benign
Transcript: ENSMUST00000031598
SMART Domains Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Blast:DEXDc 59 101 9e-19 BLAST
DEXDc 114 313 3.5e-58 SMART
HELICc 347 432 7.86e-20 SMART
low complexity region 628 646 N/A INTRINSIC
DBP10CT 706 766 1.45e-25 SMART
low complexity region 778 801 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000031599
AA Change: A147T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: A147T

DomainStartEndE-ValueType
low complexity region 235 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069259
SMART Domains Protein: ENSMUSP00000069167
Gene: ENSMUSG00000029601

DomainStartEndE-ValueType
coiled coil region 97 137 N/A INTRINSIC
coiled coil region 209 257 N/A INTRINSIC
coiled coil region 298 348 N/A INTRINSIC
IQ 363 385 5.53e-4 SMART
low complexity region 387 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094391
SMART Domains Protein: ENSMUSP00000091955
Gene: ENSMUSG00000029601

DomainStartEndE-ValueType
coiled coil region 97 137 N/A INTRINSIC
coiled coil region 209 257 N/A INTRINSIC
coiled coil region 331 381 N/A INTRINSIC
IQ 396 418 5.53e-4 SMART
low complexity region 420 458 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136070
Predicted Effect probably benign
Transcript: ENSMUST00000140554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147596
Predicted Effect probably benign
Transcript: ENSMUST00000156356
SMART Domains Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600

DomainStartEndE-ValueType
low complexity region 81 91 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177800
AA Change: A147T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: A147T

DomainStartEndE-ValueType
Pfam:RITA 1 253 2.5e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202672
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Rita1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02273:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02274:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02302:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02315:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02326:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02329:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02330:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02331:Rita1 APN 5 120609793 missense probably damaging 0.98
IGL02750:Rita1 APN 5 120609651 missense possibly damaging 0.58
R0360:Rita1 UTSW 5 120609772 missense probably benign 0.02
R0490:Rita1 UTSW 5 120611565 missense probably damaging 1.00
R1822:Rita1 UTSW 5 120609580 missense possibly damaging 0.50
R2440:Rita1 UTSW 5 120609939 missense probably damaging 1.00
R4429:Rita1 UTSW 5 120609561 missense probably damaging 0.97
R4870:Rita1 UTSW 5 120611383 missense probably damaging 1.00
R5009:Rita1 UTSW 5 120611383 missense probably damaging 1.00
R5941:Rita1 UTSW 5 120609561 missense probably benign 0.35
R6475:Rita1 UTSW 5 120611570 missense probably damaging 1.00
R7749:Rita1 UTSW 5 120611441 missense probably benign 0.23
Posted On2015-04-16