Incidental Mutation 'R0569:Tfip11'
ID 46297
Institutional Source Beutler Lab
Gene Symbol Tfip11
Ensembl Gene ENSMUSG00000029345
Gene Name tuftelin interacting protein 11
Synonyms Tip39
MMRRC Submission 038760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0569 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 112474235-112485939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112475960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 42 (R42C)
Ref Sequence ENSEMBL: ENSMUSP00000031288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031288] [ENSMUST00000129528] [ENSMUST00000198238]
AlphaFold Q9ERA6
Predicted Effect probably damaging
Transcript: ENSMUST00000031288
AA Change: R42C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: R42C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000129528
AA Change: R42C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115225
Gene: ENSMUSG00000029345
AA Change: R42C

DomainStartEndE-ValueType
Pfam:TIP_N 15 70 9.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198238
SMART Domains Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345

DomainStartEndE-ValueType
G_patch 8 54 1.9e-20 SMART
low complexity region 72 78 N/A INTRINSIC
Meta Mutation Damage Score 0.5458 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (56/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,621,016 (GRCm39) I572M possibly damaging Het
4930447A16Rik T C 15: 37,425,863 (GRCm39) M1T probably null Het
4930590J08Rik C A 6: 91,919,559 (GRCm39) C739* probably null Het
Adcy1 T A 11: 7,096,514 (GRCm39) V634E probably benign Het
Ankfy1 T A 11: 72,644,434 (GRCm39) H710Q possibly damaging Het
Ankrd60 C T 2: 173,412,859 (GRCm39) V90M probably damaging Het
Asgr2 A T 11: 69,988,703 (GRCm39) Q132L probably benign Het
Cchcr1 T A 17: 35,839,865 (GRCm39) probably null Het
Ces1h T C 8: 94,078,774 (GRCm39) K523E unknown Het
Clec3a G T 8: 115,152,476 (GRCm39) G161C probably damaging Het
Cracr2b G A 7: 141,044,848 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,597,160 (GRCm39) L17F probably damaging Het
Dhx29 T A 13: 113,084,748 (GRCm39) N655K probably benign Het
Dst C A 1: 34,332,508 (GRCm39) L4748I probably damaging Het
Eif2b5 G C 16: 20,321,303 (GRCm39) L285F probably benign Het
Enox1 T A 14: 77,875,117 (GRCm39) D441E probably damaging Het
Fam110a T C 2: 151,812,404 (GRCm39) E122G probably damaging Het
Fam161b T A 12: 84,395,413 (GRCm39) E510V probably damaging Het
Gabrd T C 4: 155,469,880 (GRCm39) Y443C probably damaging Het
Gcn1 T G 5: 115,733,118 (GRCm39) S1052A probably benign Het
Gnptab A G 10: 88,264,419 (GRCm39) E279G possibly damaging Het
Hoxa6 T A 6: 52,185,163 (GRCm39) probably null Het
Ibtk T A 9: 85,590,234 (GRCm39) probably benign Het
Il6ra A T 3: 89,785,149 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,032 (GRCm39) probably benign Het
Kcnk2 A C 1: 189,071,998 (GRCm39) L110R probably damaging Het
Knl1 T A 2: 118,927,916 (GRCm39) V1919D possibly damaging Het
Lrp1b A T 2: 40,779,251 (GRCm39) L2597Q probably benign Het
Magi3 A G 3: 103,923,358 (GRCm39) S1120P probably benign Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mcat C T 15: 83,433,449 (GRCm39) R198H probably benign Het
Mnd1 A G 3: 84,012,286 (GRCm39) V141A probably benign Het
Morc1 T C 16: 48,407,485 (GRCm39) L667P probably benign Het
Mrps6 A G 16: 91,908,808 (GRCm39) K125E possibly damaging Het
Mst1 T C 9: 107,959,500 (GRCm39) F262S probably damaging Het
Or5j3 T G 2: 86,128,941 (GRCm39) I260M probably damaging Het
Or7e178 T A 9: 20,225,875 (GRCm39) I114F probably damaging Het
Pbsn C G X: 76,897,046 (GRCm39) G15A possibly damaging Het
Pcnx1 T C 12: 82,038,804 (GRCm39) I2023T probably benign Het
Pds5a T G 5: 65,813,744 (GRCm39) N247T probably damaging Het
Peak1 T C 9: 56,167,373 (GRCm39) Y185C probably damaging Het
Phkb T A 8: 86,744,031 (GRCm39) I560N probably damaging Het
Plekhn1 T C 4: 156,309,658 (GRCm39) I160V probably damaging Het
Rabgap1 T G 2: 37,379,729 (GRCm39) probably benign Het
Rdh10 T G 1: 16,199,517 (GRCm39) V241G probably damaging Het
Selenow A T 7: 15,654,042 (GRCm39) C37S probably benign Het
Sema6a A T 18: 47,403,872 (GRCm39) probably null Het
Slc12a3 T C 8: 95,057,153 (GRCm39) probably null Het
Slc22a21 T G 11: 53,842,636 (GRCm39) M498L probably benign Het
Spink5 A T 18: 44,122,486 (GRCm39) N317I probably damaging Het
Srek1 A G 13: 103,885,370 (GRCm39) probably benign Het
Syt11 A G 3: 88,655,230 (GRCm39) V357A probably benign Het
Tcof1 T A 18: 60,962,107 (GRCm39) K707N possibly damaging Het
Trim39 T C 17: 36,574,623 (GRCm39) K260E probably benign Het
Ttn T C 2: 76,553,663 (GRCm39) T22658A possibly damaging Het
Unc45b C T 11: 82,827,638 (GRCm39) probably benign Het
Vmn1r236 A G 17: 21,507,172 (GRCm39) I97V probably benign Het
Vps13c T C 9: 67,881,001 (GRCm39) V657A probably damaging Het
Zkscan2 A G 7: 123,097,898 (GRCm39) V166A probably benign Het
Other mutations in Tfip11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Tfip11 APN 5 112,477,369 (GRCm39) missense possibly damaging 0.51
IGL02627:Tfip11 APN 5 112,477,679 (GRCm39) missense possibly damaging 0.69
R0023:Tfip11 UTSW 5 112,479,875 (GRCm39) missense possibly damaging 0.47
R0254:Tfip11 UTSW 5 112,483,521 (GRCm39) missense probably benign 0.06
R0465:Tfip11 UTSW 5 112,481,130 (GRCm39) missense probably benign 0.32
R1411:Tfip11 UTSW 5 112,480,899 (GRCm39) missense probably benign 0.00
R1751:Tfip11 UTSW 5 112,482,298 (GRCm39) missense probably damaging 1.00
R1767:Tfip11 UTSW 5 112,482,298 (GRCm39) missense probably damaging 1.00
R1792:Tfip11 UTSW 5 112,477,263 (GRCm39) missense possibly damaging 0.95
R2125:Tfip11 UTSW 5 112,483,529 (GRCm39) missense possibly damaging 0.46
R4781:Tfip11 UTSW 5 112,481,265 (GRCm39) missense probably damaging 0.99
R4975:Tfip11 UTSW 5 112,483,613 (GRCm39) unclassified probably benign
R5348:Tfip11 UTSW 5 112,483,534 (GRCm39) missense probably benign 0.01
R5385:Tfip11 UTSW 5 112,479,086 (GRCm39) critical splice donor site probably null
R5469:Tfip11 UTSW 5 112,482,191 (GRCm39) nonsense probably null
R6540:Tfip11 UTSW 5 112,482,263 (GRCm39) splice site probably null
R6810:Tfip11 UTSW 5 112,481,463 (GRCm39) missense probably benign 0.07
R7199:Tfip11 UTSW 5 112,479,044 (GRCm39) missense probably benign 0.16
R7342:Tfip11 UTSW 5 112,475,838 (GRCm39) start codon destroyed probably null 0.99
R7352:Tfip11 UTSW 5 112,481,134 (GRCm39) missense probably benign
R7921:Tfip11 UTSW 5 112,483,442 (GRCm39) missense probably benign 0.03
R8070:Tfip11 UTSW 5 112,482,796 (GRCm39) missense possibly damaging 0.94
R8987:Tfip11 UTSW 5 112,484,921 (GRCm39) missense possibly damaging 0.49
R9038:Tfip11 UTSW 5 112,481,214 (GRCm39) missense possibly damaging 0.69
R9567:Tfip11 UTSW 5 112,479,029 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCACGGAGCTGGTCATTTTGCC -3'
(R):5'- CATCACACAGTAACTGCTGAGGGG -3'

Sequencing Primer
(F):5'- GGATCATGAGGCTCATTAATAGC -3'
(R):5'- GCTCAACAACACATAGCAAGATG -3'
Posted On 2013-06-11