Incidental Mutation 'R5832:Pttg1ip'
ID 449362
Institutional Source Beutler Lab
Gene Symbol Pttg1ip
Ensembl Gene ENSMUSG00000009291
Gene Name pituitary tumor-transforming 1 interacting protein
Synonyms 1810010L20Rik
MMRRC Submission 044054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5832 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 77417554-77434566 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 77419859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009435] [ENSMUST00000161165] [ENSMUST00000161165] [ENSMUST00000161789] [ENSMUST00000162429] [ENSMUST00000162598] [ENSMUST00000162943]
AlphaFold Q8R143
Predicted Effect probably benign
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 null
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 null
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 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 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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adgrv1 G A 13: 81,251,421 (GRCm39) S6232F possibly damaging Het
Alox12 T C 11: 70,144,106 (GRCm39) E129G probably damaging Het
Anxa13 C A 15: 58,205,389 (GRCm39) noncoding transcript Het
Arfgef3 C T 10: 18,506,168 (GRCm39) G878D probably damaging Het
Asnsd1 T C 1: 53,386,634 (GRCm39) D331G probably damaging Het
Crisp1 A G 17: 40,612,208 (GRCm39) probably null Het
Eml5 T C 12: 98,842,447 (GRCm39) N217S probably benign Het
Fat1 A T 8: 45,470,460 (GRCm39) Y1463F possibly damaging Het
Fhod3 T C 18: 25,223,752 (GRCm39) W1033R probably damaging Het
Galr2 T A 11: 116,172,457 (GRCm39) L49Q probably damaging Het
Gstm5 T C 3: 107,804,853 (GRCm39) V115A probably benign Het
Gtpbp2 C T 17: 46,478,788 (GRCm39) T535I probably damaging Het
Hk1 T C 10: 62,128,144 (GRCm39) E326G probably benign Het
Igfn1 A G 1: 135,902,533 (GRCm39) V388A probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kitl C A 10: 99,915,882 (GRCm39) P137H probably damaging Het
Lamp3 A T 16: 19,520,070 (GRCm39) Y38N probably damaging Het
Lmo7 A T 14: 102,121,649 (GRCm39) N5I probably damaging Het
Mc3r T A 2: 172,091,350 (GRCm39) C191S probably benign Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mybpc3 A G 2: 90,949,520 (GRCm39) probably null Het
Nav2 A T 7: 49,197,817 (GRCm39) probably null Het
Patz1 C T 11: 3,256,277 (GRCm39) P521L probably benign Het
Pramel14 A G 4: 143,718,532 (GRCm39) S304P probably damaging Het
Prkcd T C 14: 30,327,778 (GRCm39) T103A probably damaging Het
Rcbtb2 C A 14: 73,404,262 (GRCm39) Q85K possibly damaging Het
Rdh16f1 T A 10: 127,624,618 (GRCm39) V152E probably damaging Het
Rsph4a A G 10: 33,785,498 (GRCm39) I470V probably benign Het
Sarnp T C 10: 128,684,181 (GRCm39) probably null Het
Slc39a6 C A 18: 24,734,669 (GRCm39) V7L possibly damaging Het
Slco1a4 A G 6: 141,765,270 (GRCm39) I324T probably benign Het
Spata31d1a A T 13: 59,849,380 (GRCm39) V916E probably damaging Het
Srgap1 T G 10: 121,676,819 (GRCm39) T392P probably damaging Het
Tbc1d20 A T 2: 152,153,282 (GRCm39) M271L possibly damaging Het
Tbc1d22b T C 17: 29,789,621 (GRCm39) I161T possibly damaging Het
Tcof1 G T 18: 60,952,611 (GRCm39) N918K unknown Het
Tnr A G 1: 159,713,692 (GRCm39) T707A probably benign Het
Trim66 A G 7: 109,054,409 (GRCm39) F1267S probably damaging Het
Trpm6 A G 19: 18,764,183 (GRCm39) H263R possibly damaging Het
Tshz2 T A 2: 169,725,965 (GRCm39) V187D possibly damaging Het
Ube2f T G 1: 91,213,046 (GRCm39) V176G possibly damaging Het
Vmn2r109 C T 17: 20,761,318 (GRCm39) A680T probably benign Het
Vmn2r77 T A 7: 86,460,670 (GRCm39) C665* probably null Het
Zfp954 A G 7: 7,118,389 (GRCm39) V385A 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
IGL02284:Pttg1ip APN 10 77,423,096 (GRCm39) missense probably benign 0.00
R4512:Pttg1ip UTSW 10 77,432,902 (GRCm39) utr 3 prime probably benign
R4969:Pttg1ip UTSW 10 77,419,854 (GRCm39) nonsense 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
Predicted Primers PCR Primer
(F):5'- TCCGTGATCAGCATTGAGAAACC -3'
(R):5'- ACAATGTCCCCGGAATGACG -3'

Sequencing Primer
(F):5'- AAGGACATTGTTCCTATCTCCAGTG -3'
(R):5'- AATGACGAGGTCCGGATCTGTTAC -3'
Posted On 2016-12-20