Incidental Mutation 'R4479:Unc93b1'
ID 331414
Institutional Source Beutler Lab
Gene Symbol Unc93b1
Ensembl Gene ENSMUSG00000036908
Gene Name unc-93 homolog B1, TLR signaling regulator
Synonyms
MMRRC Submission 041736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3985222-3999340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3985236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 15 (A15T)
Ref Sequence ENSEMBL: ENSMUSP00000128751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162708] [ENSMUST00000165711]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162193
Predicted Effect unknown
Transcript: ENSMUST00000162708
AA Change: A15T
SMART Domains Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: A15T

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
Pfam:UNC-93 135 214 1.6e-8 PFAM
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 306 328 N/A INTRINSIC
transmembrane domain 364 386 N/A INTRINSIC
transmembrane domain 396 418 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
transmembrane domain 494 513 N/A INTRINSIC
transmembrane domain 518 535 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165711
AA Change: A15T

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: A15T

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
Pfam:UNC-93 135 214 5.1e-9 PFAM
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 305 327 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adamts20 C T 15: 94,301,326 (GRCm39) R66H probably damaging Het
Anks1b A G 10: 89,885,754 (GRCm39) E150G probably damaging Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cnbd2 T C 2: 156,175,573 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dusp15 A G 2: 152,786,102 (GRCm39) L135P probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Erlin2 G T 8: 27,515,127 (GRCm39) V10L probably benign Het
F830104G03Rik A G 3: 56,797,634 (GRCm39) S98P unknown Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,710,283 (GRCm39) A15E possibly damaging Het
Ints4 T C 7: 97,134,178 (GRCm39) S37P probably damaging Het
Irs1 G A 1: 82,265,015 (GRCm39) T1067I probably damaging Het
Lrrc28 C T 7: 67,181,362 (GRCm39) probably null Het
Or10v1 A G 19: 11,873,922 (GRCm39) Y179C probably damaging Het
Or4a71 A G 2: 89,358,514 (GRCm39) I80T possibly damaging Het
Or5ac24 G A 16: 59,165,230 (GRCm39) T278I probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Psma3 T C 12: 71,031,555 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,372,412 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,495 (GRCm39) D152G probably damaging Het
Tti1 A T 2: 157,850,315 (GRCm39) L308Q possibly damaging Het
Usp43 G A 11: 67,747,233 (GRCm39) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zkscan5 T C 5: 145,147,984 (GRCm39) probably benign Het
Other mutations in Unc93b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Unc93b1 APN 19 3,985,356 (GRCm39) splice site probably null
IGL02631:Unc93b1 APN 19 3,992,026 (GRCm39) splice site probably benign
IGL02942:Unc93b1 APN 19 3,998,686 (GRCm39) missense probably damaging 1.00
IGL03149:Unc93b1 APN 19 3,994,041 (GRCm39) missense probably benign
3d UTSW 19 3,994,168 (GRCm39) missense possibly damaging 0.96
novelty UTSW 19 3,993,632 (GRCm39) missense probably damaging 1.00
speciality UTSW 19 3,991,910 (GRCm39) missense possibly damaging 0.51
R0680:Unc93b1 UTSW 19 3,997,093 (GRCm39) missense probably benign
R1237:Unc93b1 UTSW 19 3,985,228 (GRCm39) missense possibly damaging 0.72
R1557:Unc93b1 UTSW 19 3,992,403 (GRCm39) missense probably benign 0.13
R1992:Unc93b1 UTSW 19 3,994,062 (GRCm39) missense probably benign 0.00
R2435:Unc93b1 UTSW 19 3,986,373 (GRCm39) missense possibly damaging 0.89
R4016:Unc93b1 UTSW 19 3,993,572 (GRCm39) missense probably damaging 1.00
R4080:Unc93b1 UTSW 19 3,991,959 (GRCm39) missense probably damaging 0.99
R4829:Unc93b1 UTSW 19 3,994,293 (GRCm39) missense probably damaging 1.00
R4947:Unc93b1 UTSW 19 3,985,871 (GRCm39) missense probably benign 0.05
R4964:Unc93b1 UTSW 19 3,992,023 (GRCm39) splice site probably null
R4966:Unc93b1 UTSW 19 3,992,023 (GRCm39) splice site probably null
R5056:Unc93b1 UTSW 19 3,992,762 (GRCm39) missense possibly damaging 0.45
R5166:Unc93b1 UTSW 19 3,994,027 (GRCm39) missense probably damaging 1.00
R5441:Unc93b1 UTSW 19 3,993,703 (GRCm39) missense probably benign 0.01
R5892:Unc93b1 UTSW 19 3,993,632 (GRCm39) missense probably damaging 1.00
R6382:Unc93b1 UTSW 19 3,985,297 (GRCm39) missense probably benign 0.19
R6556:Unc93b1 UTSW 19 3,994,105 (GRCm39) missense probably benign
R6962:Unc93b1 UTSW 19 3,986,303 (GRCm39) missense possibly damaging 0.57
R7143:Unc93b1 UTSW 19 3,985,204 (GRCm39) missense unknown
R7748:Unc93b1 UTSW 19 3,985,250 (GRCm39) missense unknown
R7866:Unc93b1 UTSW 19 3,985,243 (GRCm39) missense not run
R8198:Unc93b1 UTSW 19 3,991,910 (GRCm39) missense possibly damaging 0.51
R9212:Unc93b1 UTSW 19 3,993,557 (GRCm39) missense probably damaging 1.00
R9503:Unc93b1 UTSW 19 3,986,373 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AAAAGCCCACCTTCTGCTT -3'
(R):5'- CCATCCCAGGGACCTTCC -3'

Sequencing Primer
(F):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
(R):5'- CCATCAGGAACTCCGTG -3'
Posted On 2015-07-21