Incidental Mutation 'R7565:Pttg1ip'
ID585387
Institutional Source Beutler Lab
Gene Symbol Pttg1ip
Ensembl Gene ENSMUSG00000009291
Gene Namepituitary tumor-transforming 1 interacting protein
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7565 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location77581720-77598732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77597036 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 166 (K166E)
Ref Sequence ENSEMBL: ENSMUSP00000009435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009435] [ENSMUST00000161165] [ENSMUST00000161789] [ENSMUST00000162429] [ENSMUST00000162598] [ENSMUST00000162943]
Predicted Effect probably damaging
Transcript: ENSMUST00000009435
AA Change: K166E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009435
Gene: ENSMUSG00000009291
AA Change: K166E

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 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 possibly damaging
Transcript: ENSMUST00000162429
AA Change: K112E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124457
Gene: ENSMUSG00000009291
AA Change: K112E

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 damaging
Transcript: ENSMUST00000162943
AA Change: K103E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124313
Gene: ENSMUSG00000009291
AA Change: K103E

DomainStartEndE-ValueType
Blast:PSI 1 26 2e-11 BLAST
transmembrane domain 31 53 N/A INTRINSIC
coiled coil region 64 100 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,685,270 N276K probably benign Het
9830107B12Rik T A 17: 48,145,579 Y63F possibly damaging Het
Abi1 A T 2: 22,946,584 I421N probably benign Het
Ahnak A G 19: 9,016,156 I4935V probably benign Het
Atg12 A C 18: 46,734,484 V131G probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,888,138 probably benign Het
BC028528 TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG 3: 95,888,144 probably benign Het
Bcl3 C T 7: 19,812,494 V139I probably damaging Het
Bloc1s4 T A 5: 36,748,345 M101L probably benign Het
Bmp6 C T 13: 38,346,257 Q109* probably null Het
Cabyr C T 18: 12,744,599 T28I possibly damaging Het
Catsper3 T C 13: 55,784,725 S22P probably benign Het
Catsperg2 A T 7: 29,712,981 C395S probably null Het
Cd101 T C 3: 101,018,792 T208A probably benign Het
Chaf1a A G 17: 56,064,148 S678G probably benign Het
Chrna2 A C 14: 66,151,035 I500L probably benign Het
Cln6 C T 9: 62,850,757 T266I possibly damaging Het
Col17a1 T A 19: 47,671,524 T330S possibly damaging Het
Cyp2d40 A G 15: 82,760,774 V225A unknown Het
Dnah10 A G 5: 124,799,031 N2645D probably damaging Het
Dph5 T A 3: 115,892,797 V74D probably benign Het
Dthd1 A T 5: 62,843,092 I586L probably damaging Het
Elane G A 10: 79,887,045 R95Q probably benign Het
Fbxw17 A G 13: 50,433,362 T453A probably damaging Het
Fpr3 C A 17: 17,970,965 T166K probably damaging Het
Fryl A G 5: 73,033,720 I2724T probably benign Het
Fsip2 C T 2: 82,949,512 R201C probably damaging Het
Gm14496 T A 2: 181,991,257 F11Y possibly damaging Het
Gm14496 A G 2: 182,000,837 N767S probably damaging Het
Hyal4 T A 6: 24,765,934 M429K possibly damaging Het
Itgad A T 7: 128,183,015 T208S probably damaging Het
Itpr3 T G 17: 27,110,888 L1552R probably benign Het
Kcp C T 6: 29,499,187 C292Y probably damaging Het
Kdr T C 5: 75,948,843 K958R probably damaging Het
Klhl22 T A 16: 17,789,284 W485R probably damaging Het
Ldhb T A 6: 142,492,519 I271F possibly damaging Het
Lmo7 A G 14: 101,885,301 R309G probably damaging Het
Marco C A 1: 120,474,666 C517F probably damaging Het
Mpdz G A 4: 81,303,654 T1423I probably benign Het
Ncoa2 T C 1: 13,148,376 S1410G probably benign Het
Ncor1 T C 11: 62,401,265 N283S probably damaging Het
Nlrp14 T A 7: 107,181,887 L97* probably null Het
Olfm3 T G 3: 115,122,744 S442A probably damaging Het
Olfr116 T C 17: 37,624,501 I45V probably damaging Het
Olfr1436 T C 19: 12,298,848 T95A probably benign Het
Olfr693 T C 7: 106,678,126 Y120C probably damaging Het
Olfr76 T A 19: 12,120,011 S234C probably benign Het
Olfr796 A G 10: 129,608,160 V107A possibly damaging Het
Pank4 G A 4: 154,980,550 V769I probably benign Het
Pdgfrb G A 18: 61,083,264 D1065N probably damaging Het
Ppp1r12a G A 10: 108,268,640 S911N probably benign Het
Prdx6b A G 2: 80,292,990 T48A probably damaging Het
Rabgap1l T C 1: 160,251,417 D9G Het
Rpl13a C T 7: 45,127,042 G69S probably benign Het
Rps6ka5 T A 12: 100,616,083 I177F probably damaging Het
Rttn C A 18: 89,060,479 A1343E probably damaging Het
Ryr2 C T 13: 11,560,653 V4820I possibly damaging Het
Slc12a7 A G 13: 73,790,772 I223V possibly damaging Het
Slc9a3 G A 13: 74,157,694 V277M probably damaging Het
Spata13 A T 14: 60,751,849 Y988F probably damaging Het
Spo11 A G 2: 172,992,071 I329V possibly damaging Het
Tcp11l2 A T 10: 84,587,134 D63V probably damaging Het
Tdrd3 G A 14: 87,506,593 W659* probably null Het
Thnsl2 T C 6: 71,141,327 D39G probably benign Het
Thumpd1 A T 7: 119,716,862 L288* probably null Het
Tram1l1 T C 3: 124,321,907 Y239H probably damaging Het
Usp38 T A 8: 80,981,972 E992D probably damaging Het
Usp45 A G 4: 21,784,790 T159A probably benign Het
Vmn1r218 C T 13: 23,136,660 T59I probably benign Het
Vmn2r70 T C 7: 85,565,291 I218V probably benign Het
Xpr1 T C 1: 155,307,742 I461V probably benign Het
Ydjc T C 16: 17,147,005 L8P probably damaging Het
Yme1l1 A T 2: 23,160,220 N21I possibly damaging Het
Zfhx4 T C 3: 5,390,366 L1140P probably benign Het
Other mutations in Pttg1ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Pttg1ip APN 10 77581929 critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- CATGTAAAACTTGGCTGAGGTG -3'
(R):5'- TCTTAAGGCCACACTGGTGC -3'

Sequencing Primer
(F):5'- TGGCCTAGAAATCTACTGGTAGACC -3'
(R):5'- CCAGGAAACTCTGGAACT -3'
Posted On2019-10-17