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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |