Incidental Mutation 'IGL02970:Tiprl'
ID 365767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tiprl
Ensembl Gene ENSMUSG00000040843
Gene Name TIP41, TOR signalling pathway regulator-like (S. cerevisiae)
Synonyms 1810011K17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02970
Quality Score
Status
Chromosome 1
Chromosomal Location 165039855-165064565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165064315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 30 (S30P)
Ref Sequence ENSEMBL: ENSMUSP00000037514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043235] [ENSMUST00000192436] [ENSMUST00000195248]
AlphaFold Q8BH58
Predicted Effect probably damaging
Transcript: ENSMUST00000043235
AA Change: S30P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037514
Gene: ENSMUSG00000040843
AA Change: S30P

DomainStartEndE-ValueType
Pfam:TIP41 48 225 1.7e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192350
Predicted Effect probably damaging
Transcript: ENSMUST00000192436
AA Change: S30P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000195248
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]
Allele List at MGI

All alleles(6) : Gene trapped(6)
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,226,748 (GRCm39) G5S probably damaging Het
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
BC051019 T A 7: 109,315,262 (GRCm39) N331I probably benign Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Micu3 T C 8: 40,835,171 (GRCm39) Y509H possibly damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prf1 T C 10: 61,135,957 (GRCm39) S78P probably benign Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Ttl T C 2: 128,917,990 (GRCm39) S151P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in Tiprl
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Tiprl UTSW 1 165,043,397 (GRCm39) missense possibly damaging 0.80
R0471:Tiprl UTSW 1 165,050,092 (GRCm39) splice site probably null
R0647:Tiprl UTSW 1 165,050,092 (GRCm39) splice site probably null
R1413:Tiprl UTSW 1 165,043,359 (GRCm39) missense possibly damaging 0.71
R1536:Tiprl UTSW 1 165,055,975 (GRCm39) missense probably benign 0.00
R4232:Tiprl UTSW 1 165,050,156 (GRCm39) missense probably damaging 0.99
R4997:Tiprl UTSW 1 165,047,759 (GRCm39) missense possibly damaging 0.53
R5238:Tiprl UTSW 1 165,043,337 (GRCm39) missense probably benign
R7972:Tiprl UTSW 1 165,064,543 (GRCm39) unclassified probably benign
R8114:Tiprl UTSW 1 165,055,991 (GRCm39) missense probably benign 0.13
R9683:Tiprl UTSW 1 165,050,147 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18