Incidental Mutation 'R6805:Tollip'
ID 533532
Institutional Source Beutler Lab
Gene Symbol Tollip
Ensembl Gene ENSMUSG00000025139
Gene Name toll interacting protein
Synonyms 4930403G24Rik, Toll interacting protein, 4931428G15Rik
MMRRC Submission 044918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6805 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 141874813-141918507 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141890845 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000118336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001950] [ENSMUST00000055819] [ENSMUST00000130439] [ENSMUST00000151890]
AlphaFold Q9QZ06
Predicted Effect probably benign
Transcript: ENSMUST00000001950
AA Change: S126P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: S126P

low complexity region 28 44 N/A INTRINSIC
C2 54 151 1.32e-6 SMART
low complexity region 175 190 N/A INTRINSIC
low complexity region 213 225 N/A INTRINSIC
CUE 229 271 1.43e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055819
AA Change: S126P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: S126P

low complexity region 28 44 N/A INTRINSIC
C2 54 151 1.32e-6 SMART
low complexity region 175 190 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000130439
AA Change: S122P
SMART Domains Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: S122P

low complexity region 24 40 N/A INTRINSIC
Pfam:C2 51 115 6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151890
AA Change: S57P

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: S57P

Pfam:C2 1 66 1.9e-8 PFAM
low complexity region 106 121 N/A INTRINSIC
low complexity region 144 156 N/A INTRINSIC
CUE 160 202 1.43e-15 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,244,306 (GRCm38) V2591A probably benign Het
4930407I10Rik A G 15: 82,062,543 (GRCm38) T214A possibly damaging Het
A930009A15Rik G T 10: 115,579,905 (GRCm38) probably benign Het
Aadac A C 3: 60,037,336 (GRCm38) D143A probably benign Het
Acot10 T G 15: 20,665,366 (GRCm38) T430P probably benign Het
Adgrb3 T C 1: 25,826,172 (GRCm38) T197A possibly damaging Het
B230118H07Rik T C 2: 101,566,459 (GRCm38) K192E probably benign Het
Bbs1 A G 19: 4,900,615 (GRCm38) I200T probably damaging Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
Cadps G A 14: 12,467,103 (GRCm38) A943V probably damaging Het
Cc2d2a A G 5: 43,681,331 (GRCm38) E48G probably damaging Het
Clca1 A T 3: 145,018,667 (GRCm38) C211S probably damaging Het
Col18a1 A G 10: 77,054,239 (GRCm38) L1429P probably damaging Het
Cul2 T G 18: 3,421,263 (GRCm38) Y196D probably damaging Het
D630023F18Rik T C 1: 65,117,206 (GRCm38) S43G probably benign Het
Ddx39 G A 8: 83,723,137 (GRCm38) R427Q probably damaging Het
Def6 A G 17: 28,223,717 (GRCm38) T285A probably damaging Het
Defb21 T A 2: 152,574,869 (GRCm38) D88E probably benign Het
Defb6 A G 8: 19,228,101 (GRCm38) K63R probably benign Het
Dnph1 T C 17: 46,498,744 (GRCm38) S112P probably damaging Het
Dock10 T A 1: 80,586,690 (GRCm38) I467L probably benign Het
Dspp C A 5: 104,175,850 (GRCm38) H286Q probably benign Het
Eya1 T A 1: 14,183,277 (GRCm38) T459S probably benign Het
Faf1 T C 4: 109,861,852 (GRCm38) L385P probably damaging Het
Fbxw21 C A 9: 109,157,565 (GRCm38) R82L probably damaging Het
Fryl A G 5: 73,065,094 (GRCm38) V2048A probably benign Het
Galnt5 A T 2: 58,035,299 (GRCm38) D864V possibly damaging Het
Gata6 T G 18: 11,054,460 (GRCm38) S130A possibly damaging Het
Gbf1 G T 19: 46,262,507 (GRCm38) R434L probably damaging Het
Gga3 A G 11: 115,585,762 (GRCm38) F709L probably damaging Het
Hcar1 A G 5: 123,879,130 (GRCm38) V166A probably benign Het
Hexa T A 9: 59,563,937 (GRCm38) N491K possibly damaging Het
Hpse2 A T 19: 43,294,321 (GRCm38) C164* probably null Het
Ifi202b T C 1: 173,974,989 (GRCm38) Y93C probably damaging Het
Iscu T A 5: 113,775,243 (GRCm38) I79N probably damaging Het
Jmjd7 T A 2: 120,031,323 (GRCm38) Y182* probably null Het
Jup A T 11: 100,383,458 (GRCm38) D135E probably benign Het
Kit T A 5: 75,652,808 (GRCm38) I881N probably damaging Het
Llgl1 T A 11: 60,702,865 (GRCm38) S55T probably benign Het
Lonp2 G A 8: 86,709,096 (GRCm38) M653I probably benign Het
Lrp8 T C 4: 107,854,320 (GRCm38) Y307H probably damaging Het
Med13 A T 11: 86,278,796 (GRCm38) M1914K possibly damaging Het
Ms4a1 A G 19: 11,253,173 (GRCm38) probably null Het
Naip1 A G 13: 100,427,341 (GRCm38) S439P probably benign Het
Nrg1 T C 8: 31,821,264 (GRCm38) R476G probably damaging Het
Olfr1129 T A 2: 87,574,918 (GRCm38) probably null Het
Olfr835 G T 9: 19,035,301 (GRCm38) M59I probably damaging Het
Pds5b T A 5: 150,805,561 (GRCm38) probably null Het
Phf12 G A 11: 78,027,373 (GRCm38) G804R probably damaging Het
Pou6f2 T C 13: 18,239,489 (GRCm38) T234A Het
Prune2 A T 19: 17,120,590 (GRCm38) I1153L probably benign Het
Ptprc C T 1: 138,067,885 (GRCm38) probably null Het
Qpctl T C 7: 19,149,154 (GRCm38) Q11R probably benign Het
Rfx4 A G 10: 84,840,228 (GRCm38) K103E possibly damaging Het
Srcin1 T A 11: 97,551,980 (GRCm38) probably null Het
St6galnac1 G T 11: 116,768,944 (GRCm38) A181D probably damaging Het
Stk36 T C 1: 74,622,239 (GRCm38) V475A probably benign Het
Tbc1d21 T C 9: 58,361,288 (GRCm38) T263A possibly damaging Het
Tex24 A T 8: 27,345,000 (GRCm38) K185N probably damaging Het
Tnxb T A 17: 34,698,153 (GRCm38) V2174E possibly damaging Het
Zbtb49 A G 5: 38,213,241 (GRCm38) probably benign Het
Zfp758 A G 17: 22,361,669 (GRCm38) T30A probably benign Het
Other mutations in Tollip
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1404:Tollip UTSW 7 141,884,555 (GRCm38) missense probably benign 0.00
R1404:Tollip UTSW 7 141,884,555 (GRCm38) missense probably benign 0.00
R1742:Tollip UTSW 7 141,892,855 (GRCm38) missense probably damaging 1.00
R2443:Tollip UTSW 7 141,890,823 (GRCm38) nonsense probably null
R4092:Tollip UTSW 7 141,884,443 (GRCm38) missense probably damaging 1.00
R5192:Tollip UTSW 7 141,892,117 (GRCm38) missense probably damaging 1.00
R5614:Tollip UTSW 7 141,892,088 (GRCm38) missense probably damaging 1.00
R6132:Tollip UTSW 7 141,889,597 (GRCm38) missense probably benign 0.37
R6830:Tollip UTSW 7 141,898,714 (GRCm38) start codon destroyed probably null 0.00
R7366:Tollip UTSW 7 141,889,597 (GRCm38) missense probably benign 0.37
R7509:Tollip UTSW 7 141,892,141 (GRCm38) missense probably benign 0.36
R7759:Tollip UTSW 7 141,884,539 (GRCm38) missense probably benign
R8024:Tollip UTSW 7 141,892,826 (GRCm38) missense probably benign
R9574:Tollip UTSW 7 141,891,994 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-09-12