Incidental Mutation 'IGL02329:Rita1'
ID288605
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: 0.173) question?
Stock #IGL02329
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R 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
IGL02313: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
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
R8313:Rita1 UTSW 5 120609651 missense possibly damaging 0.87
Posted On2015-04-16