Incidental Mutation 'IGL01782:Pttg1ip'
ID153976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pttg1ip
Ensembl Gene ENSMUSG00000009291
Gene Namepituitary tumor-transforming 1 interacting protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01782
Quality Score
Status
Chromosome10
Chromosomal Location77581720-77598732 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 77581929 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009435] [ENSMUST00000161165] [ENSMUST00000161789] [ENSMUST00000162429] [ENSMUST00000162598] [ENSMUST00000162943]
Predicted Effect probably null
Transcript: ENSMUST00000009435
SMART Domains Protein: ENSMUSP00000009435
Gene: ENSMUSG00000009291

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
SMART Domains Protein: ENSMUSP00000124774
Gene: ENSMUSG00000009291

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 null
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,616,713 V34A probably benign Het
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Ccdc62 T A 5: 123,954,576 N541K possibly damaging Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dtx2 C A 5: 136,010,127 Y13* probably null Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Odf4 A T 11: 68,926,633 H76Q probably damaging Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Otud4 T G 8: 79,673,011 F784V possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Pttg1ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Pttg1ip APN 10 77589744 critical splice donor site probably null
IGL02284:Pttg1ip APN 10 77587262 missense probably benign 0.00
R4512:Pttg1ip UTSW 10 77597068 utr 3 prime probably benign
R4969:Pttg1ip UTSW 10 77584020 nonsense probably null
R5832:Pttg1ip UTSW 10 77584025 critical splice donor site probably null
R5891:Pttg1ip UTSW 10 77582440 start gained probably benign
R6188:Pttg1ip UTSW 10 77582508 critical splice donor site probably null
R7565:Pttg1ip UTSW 10 77597036 missense probably damaging 1.00
Posted On2014-02-04