Incidental Mutation 'IGL02284:Pttg1ip'
ID 289926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pttg1ip
Ensembl Gene ENSMUSG00000009291
Gene Name pituitary tumor-transforming 1 interacting protein
Synonyms 1810010L20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02284
Quality Score
Status
Chromosome 10
Chromosomal Location 77417554-77434566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77423096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 11 (Y11H)
Ref Sequence ENSEMBL: ENSMUSP00000124774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009435] [ENSMUST00000161165] [ENSMUST00000161789] [ENSMUST00000162429] [ENSMUST00000162598] [ENSMUST00000162943]
AlphaFold Q8R143
Predicted Effect probably benign
Transcript: ENSMUST00000009435
AA Change: Y40H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000009435
Gene: ENSMUSG00000009291
AA Change: Y40H

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
PSI 36 89 2.34e-4 SMART
transmembrane domain 94 116 N/A INTRINSIC
coiled coil region 127 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159116
Predicted Effect probably benign
Transcript: ENSMUST00000161165
AA Change: Y11H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124774
Gene: ENSMUSG00000009291
AA Change: Y11H

DomainStartEndE-ValueType
PSI 7 60 2.34e-4 SMART
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161789
Predicted Effect probably benign
Transcript: ENSMUST00000162429
SMART Domains Protein: ENSMUSP00000124457
Gene: ENSMUSG00000009291

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
coiled coil region 73 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162895
Predicted Effect probably benign
Transcript: ENSMUST00000162943
SMART Domains Protein: ENSMUSP00000124313
Gene: ENSMUSG00000009291

DomainStartEndE-ValueType
Blast:PSI 1 26 2e-11 BLAST
transmembrane domain 31 53 N/A INTRINSIC
coiled coil region 64 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218797
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 encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp3a41a A G 5: 145,641,673 (GRCm39) probably benign Het
Cyp3a44 G A 5: 145,725,179 (GRCm39) P341S possibly damaging Het
Dpp10 T C 1: 123,973,103 (GRCm39) probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gp2 A G 7: 119,049,406 (GRCm39) L377P probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Rasa4 T A 5: 136,130,545 (GRCm39) probably null Het
Sbf1 G A 15: 89,189,281 (GRCm39) P480L probably damaging Het
Setd1b T A 5: 123,301,491 (GRCm39) F16L possibly damaging Het
Srsf3 G T 17: 29,255,431 (GRCm39) probably benign Het
Svep1 A T 4: 58,072,819 (GRCm39) F2163L probably benign Het
Vmn2r73 T A 7: 85,507,123 (GRCm39) I730F possibly damaging Het
Zfp579 A T 7: 4,997,167 (GRCm39) L248Q probably damaging Het
Other mutations in Pttg1ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Pttg1ip APN 10 77,417,763 (GRCm39) critical splice donor site probably null
IGL02135:Pttg1ip APN 10 77,425,578 (GRCm39) critical splice donor site probably null
R4512:Pttg1ip UTSW 10 77,432,902 (GRCm39) utr 3 prime probably benign
R4969:Pttg1ip UTSW 10 77,419,854 (GRCm39) nonsense probably null
R5832:Pttg1ip UTSW 10 77,419,859 (GRCm39) critical splice donor site probably null
R5891:Pttg1ip UTSW 10 77,418,274 (GRCm39) start gained probably benign
R6188:Pttg1ip UTSW 10 77,418,342 (GRCm39) critical splice donor site probably null
R7565:Pttg1ip UTSW 10 77,432,870 (GRCm39) missense probably damaging 1.00
R9161:Pttg1ip UTSW 10 77,425,487 (GRCm39) missense probably benign 0.38
Posted On 2015-04-16