Incidental Mutation 'R5441:Unc93b1'
ID 427207
Institutional Source Beutler Lab
Gene Symbol Unc93b1
Ensembl Gene ENSMUSG00000036908
Gene Name unc-93 homolog B1, TLR signaling regulator
Synonyms
MMRRC Submission 043006-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5441 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3985222-3999340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3993703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 382 (F382L)
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: ENSMUST00000161415
Predicted Effect probably benign
Transcript: ENSMUST00000162708
AA Change: F382L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: F382L

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: F382L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: F382L

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: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Aspa A T 11: 73,196,420 (GRCm39) F261I probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Car1 G C 3: 14,841,364 (GRCm39) R90G probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or6ae1 T C 7: 139,742,564 (GRCm39) T100A probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Pramel34 A T 5: 93,784,456 (GRCm39) M139K possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ptpn14 T C 1: 189,530,767 (GRCm39) L78P probably damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q probably damaging 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
R4479:Unc93b1 UTSW 19 3,985,236 (GRCm39) missense probably benign 0.16
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
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'- GGGATGCCTGTTATAGTCCCTTC -3'
(R):5'- AAGGGTGAAAGCATCTCCATTC -3'

Sequencing Primer
(F):5'- TTCTGCAGGTGCTGGGCC -3'
(R):5'- GGTGAAAGCATCTCCATTCTAACTAC -3'
Posted On 2016-09-01