Incidental Mutation 'R6188:Pttg1ip'
ID 502318
Institutional Source Beutler Lab
Gene Symbol Pttg1ip
Ensembl Gene ENSMUSG00000009291
Gene Name pituitary tumor-transforming 1 interacting protein
Synonyms 1810010L20Rik
MMRRC Submission 044328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6188 (G1)
Quality Score 225.009
Status 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 77418342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009435] [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 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 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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Epb41l4a T A 18: 33,965,718 (GRCm39) I370L probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fam151a A T 4: 106,602,696 (GRCm39) Y205F possibly damaging Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9a A T 6: 5,158,113 (GRCm39) K1174* probably null Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Sel1l3 A C 5: 53,313,061 (GRCm39) I542R possibly damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Zfp983 A G 17: 21,877,935 (GRCm39) Y46C 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
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
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'- TACACTCTAGCCTGTCACGGTG -3'
(R):5'- AGACTAGCCGTTTTAAACATCAGC -3'

Sequencing Primer
(F):5'- CTAGCCTGTCACGGTGTGTTTTC -3'
(R):5'- GGTAACAGGTGAAGGTTC -3'
Posted On 2018-02-27