Incidental Mutation 'R0254:Tfip11'
ID 34545
Institutional Source Beutler Lab
Gene Symbol Tfip11
Ensembl Gene ENSMUSG00000029345
Gene Name tuftelin interacting protein 11
Synonyms Tip39
MMRRC Submission 038485-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R0254 (G1)
Quality Score 145
Status Validated
Chromosome 5
Chromosomal Location 112326358-112338073 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112335655 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 645 (M645I)
Ref Sequence ENSEMBL: ENSMUSP00000031288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031288] [ENSMUST00000031289] [ENSMUST00000146510] [ENSMUST00000198238]
AlphaFold Q9ERA6
Predicted Effect probably benign
Transcript: ENSMUST00000031288
AA Change: M645I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: M645I

Pfam:TIP_N 17 114 1.4e-30 PFAM
G_patch 148 194 3.3e-18 SMART
low complexity region 212 218 N/A INTRINSIC
low complexity region 228 242 N/A INTRINSIC
Pfam:GCFC 398 667 3.4e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031289
SMART Domains Protein: ENSMUSP00000031289
Gene: ENSMUSG00000029346

low complexity region 13 54 N/A INTRINSIC
Pfam:SRR1 109 164 2.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126736
Predicted Effect probably benign
Transcript: ENSMUST00000146510
SMART Domains Protein: ENSMUSP00000119870
Gene: ENSMUSG00000029346

low complexity region 12 53 N/A INTRINSIC
Pfam:SRR1 109 162 1.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156083
Predicted Effect probably benign
Transcript: ENSMUST00000198238
SMART Domains Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345

G_patch 8 54 1.9e-20 SMART
low complexity region 72 78 N/A INTRINSIC
Meta Mutation Damage Score 0.0643 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 100% (100/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,404 (GRCm38) M252L probably benign Het
Abca6 A G 11: 110,236,789 (GRCm38) V314A probably benign Het
Abcb1b A T 5: 8,827,409 (GRCm38) E656D probably benign Het
Abhd4 T C 14: 54,263,234 (GRCm38) I160T probably benign Het
Aco2 T C 15: 81,889,356 (GRCm38) V32A probably damaging Het
Actl6b A G 5: 137,554,144 (GRCm38) probably benign Het
Akap13 T C 7: 75,736,604 (GRCm38) probably benign Het
Alpk3 A T 7: 81,076,974 (GRCm38) T136S probably benign Het
Ap1g1 G T 8: 109,803,117 (GRCm38) M56I probably benign Het
Arid2 C T 15: 96,370,571 (GRCm38) T855I probably damaging Het
Asprv1 T C 6: 86,629,095 (GRCm38) F308L probably damaging Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Atp11b T A 3: 35,812,110 (GRCm38) M378K possibly damaging Het
Atp1a3 T C 7: 24,981,512 (GRCm38) probably benign Het
Blk C A 14: 63,380,804 (GRCm38) A218S probably benign Het
C4b T A 17: 34,734,776 (GRCm38) T953S probably benign Het
Cdadc1 T C 14: 59,575,907 (GRCm38) probably benign Het
Cdca2 C A 14: 67,677,178 (GRCm38) L877F probably damaging Het
Ceacam10 G T 7: 24,778,308 (GRCm38) V83L probably damaging Het
Cep290 A T 10: 100,514,574 (GRCm38) I677F probably benign Het
Clip1 A T 5: 123,617,332 (GRCm38) probably benign Het
Col11a2 G T 17: 34,064,803 (GRCm38) probably benign Het
Coro1c A T 5: 113,845,252 (GRCm38) V405D probably benign Het
Crebrf A G 17: 26,739,594 (GRCm38) T13A probably benign Het
Cspg4 A G 9: 56,897,410 (GRCm38) E1835G probably damaging Het
Cubn T C 2: 13,424,694 (GRCm38) N1332S probably benign Het
Cubn T C 2: 13,440,514 (GRCm38) T1014A possibly damaging Het
Cubn A T 2: 13,476,035 (GRCm38) probably null Het
Efnb1 T C X: 99,137,028 (GRCm38) probably benign Het
Elf2 G T 3: 51,308,190 (GRCm38) P33Q probably damaging Het
Fap C T 2: 62,503,402 (GRCm38) G633D probably damaging Het
Gm10288 T C 3: 146,838,920 (GRCm38) noncoding transcript Het
Got2 T C 8: 95,869,538 (GRCm38) N318S probably benign Het
Guk1 A T 11: 59,186,028 (GRCm38) F76L probably damaging Het
H2-K1 A T 17: 33,996,665 (GRCm38) probably benign Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hinfp G A 9: 44,298,239 (GRCm38) H250Y probably damaging Het
Hnrnpm C T 17: 33,652,268 (GRCm38) probably null Het
Hsd11b2 T A 8: 105,523,067 (GRCm38) V270E possibly damaging Het
Igbp1b A T 6: 138,658,203 (GRCm38) M81K probably damaging Het
Kif11 A G 19: 37,411,509 (GRCm38) T815A probably benign Het
Kit G A 5: 75,620,921 (GRCm38) V337I probably benign Het
Klf11 T C 12: 24,653,583 (GRCm38) S6P probably damaging Het
Klk13 T C 7: 43,723,821 (GRCm38) V193A probably benign Het
Krt73 T A 15: 101,799,889 (GRCm38) probably benign Het
L1td1 T A 4: 98,737,182 (GRCm38) L538* probably null Het
Macf1 A G 4: 123,432,779 (GRCm38) L2061P probably damaging Het
Mcm2 A G 6: 88,884,016 (GRCm38) I900T probably damaging Het
Med16 A T 10: 79,900,200 (GRCm38) N371K possibly damaging Het
Mepce A C 5: 137,785,436 (GRCm38) D209E possibly damaging Het
Mrc2 C G 11: 105,347,866 (GRCm38) P1249R probably benign Het
Mx2 A T 16: 97,556,095 (GRCm38) I463L probably benign Het
Naaa A T 5: 92,265,135 (GRCm38) N73K probably damaging Het
Nags T A 11: 102,147,945 (GRCm38) L404Q probably damaging Het
Neb A G 2: 52,243,390 (GRCm38) Y3379H probably damaging Het
Nhsl1 A G 10: 18,472,985 (GRCm38) E120G probably damaging Het
Or11j4 T C 14: 50,393,079 (GRCm38) S108P probably damaging Het
Or4f53 A C 2: 111,257,121 (GRCm38) N2T probably benign Het
Or51a42 T C 7: 104,059,521 (GRCm38) H27R probably benign Het
Or51ah3 T A 7: 103,560,622 (GRCm38) Y48* probably null Het
Or51f5 C A 7: 102,774,869 (GRCm38) S115* probably null Het
Pcnt A G 10: 76,392,580 (GRCm38) F1584L probably benign Het
Pdgfra G A 5: 75,167,935 (GRCm38) V243I probably damaging Het
Polr2a T C 11: 69,743,671 (GRCm38) I689V possibly damaging Het
Ppfia4 C A 1: 134,324,224 (GRCm38) probably benign Het
Prmt8 C A 6: 127,711,808 (GRCm38) V200L probably damaging Het
Prpf8 T A 11: 75,506,362 (GRCm38) I2007N possibly damaging Het
Ptpn6 T C 6: 124,728,150 (GRCm38) E230G probably damaging Het
R3hcc1l G A 19: 42,563,148 (GRCm38) V195I probably damaging Het
Rb1cc1 C T 1: 6,262,847 (GRCm38) T1330I probably damaging Het
Reep3 G T 10: 67,021,796 (GRCm38) T172N probably benign Het
Rfwd3 A G 8: 111,294,023 (GRCm38) V236A probably benign Het
Rgs22 T C 15: 36,104,552 (GRCm38) I121V probably damaging Het
Robo1 T A 16: 72,664,170 (GRCm38) F11I probably benign Het
Rsrc2 A G 5: 123,740,847 (GRCm38) probably benign Het
Rubcn A G 16: 32,847,946 (GRCm38) V117A probably benign Het
Scamp1 T G 13: 94,210,580 (GRCm38) N192T probably benign Het
Scn8a T A 15: 101,018,364 (GRCm38) I1218N probably damaging Het
Serinc1 A G 10: 57,523,208 (GRCm38) S200P probably damaging Het
Serpinb9f T A 13: 33,334,591 (GRCm38) F358Y probably damaging Het
Slc12a5 T C 2: 164,997,245 (GRCm38) probably null Het
Slc5a4b T C 10: 76,070,628 (GRCm38) M386V possibly damaging Het
Smarca5 A G 8: 80,704,700 (GRCm38) F963L probably benign Het
Smchd1 A T 17: 71,411,891 (GRCm38) F828I probably benign Het
Smr2l A T 5: 88,282,371 (GRCm38) H42L possibly damaging Het
Stab2 G T 10: 86,897,960 (GRCm38) Q1333K probably benign Het
Svop T C 5: 114,038,539 (GRCm38) S349G probably benign Het
Tdrd1 G A 19: 56,842,566 (GRCm38) S271N probably benign Het
Tec G A 5: 72,783,738 (GRCm38) P159S probably benign Het
Tec T C 5: 72,763,556 (GRCm38) probably benign Het
Thap12 A T 7: 98,715,281 (GRCm38) T219S probably benign Het
Tmem87a C T 2: 120,375,507 (GRCm38) R329H probably damaging Het
Tpsab1 A G 17: 25,343,745 (GRCm38) Y227H probably damaging Het
Urah G A 7: 140,837,689 (GRCm38) V114I probably benign Het
Wnt5a G A 14: 28,522,854 (GRCm38) E353K probably damaging Het
Zfp1004 G A 2: 150,191,864 (GRCm38) R35K possibly damaging Het
Zfp101 A T 17: 33,380,978 (GRCm38) H601Q possibly damaging Het
Other mutations in Tfip11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Tfip11 APN 5 112,329,503 (GRCm38) missense possibly damaging 0.51
IGL02627:Tfip11 APN 5 112,329,813 (GRCm38) missense possibly damaging 0.69
R0023:Tfip11 UTSW 5 112,332,009 (GRCm38) missense possibly damaging 0.47
R0465:Tfip11 UTSW 5 112,333,264 (GRCm38) missense probably benign 0.32
R0569:Tfip11 UTSW 5 112,328,094 (GRCm38) missense probably damaging 1.00
R1411:Tfip11 UTSW 5 112,333,033 (GRCm38) missense probably benign 0.00
R1751:Tfip11 UTSW 5 112,334,432 (GRCm38) missense probably damaging 1.00
R1767:Tfip11 UTSW 5 112,334,432 (GRCm38) missense probably damaging 1.00
R1792:Tfip11 UTSW 5 112,329,397 (GRCm38) missense possibly damaging 0.95
R2125:Tfip11 UTSW 5 112,335,663 (GRCm38) missense possibly damaging 0.46
R4781:Tfip11 UTSW 5 112,333,399 (GRCm38) missense probably damaging 0.99
R4975:Tfip11 UTSW 5 112,335,747 (GRCm38) unclassified probably benign
R5348:Tfip11 UTSW 5 112,335,668 (GRCm38) missense probably benign 0.01
R5385:Tfip11 UTSW 5 112,331,220 (GRCm38) critical splice donor site probably null
R5469:Tfip11 UTSW 5 112,334,325 (GRCm38) nonsense probably null
R6540:Tfip11 UTSW 5 112,334,397 (GRCm38) splice site probably null
R6810:Tfip11 UTSW 5 112,333,597 (GRCm38) missense probably benign 0.07
R7199:Tfip11 UTSW 5 112,331,178 (GRCm38) missense probably benign 0.16
R7342:Tfip11 UTSW 5 112,327,972 (GRCm38) start codon destroyed probably null 0.99
R7352:Tfip11 UTSW 5 112,333,268 (GRCm38) missense probably benign
R7921:Tfip11 UTSW 5 112,335,576 (GRCm38) missense probably benign 0.03
R8070:Tfip11 UTSW 5 112,334,930 (GRCm38) missense possibly damaging 0.94
R8987:Tfip11 UTSW 5 112,337,055 (GRCm38) missense possibly damaging 0.49
R9038:Tfip11 UTSW 5 112,333,348 (GRCm38) missense possibly damaging 0.69
R9567:Tfip11 UTSW 5 112,331,163 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- caccagaagagggcatcag -3'
Posted On 2013-05-09