Incidental Mutation 'R9503:Unc93b1'
ID |
717714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc93b1
|
Ensembl Gene |
ENSMUSG00000036908 |
Gene Name |
unc-93 homolog B1, TLR signaling regulator |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9503 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3986373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 136
(I136V)
|
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 |
possibly damaging
Transcript: ENSMUST00000162708
AA Change: I136V
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124272 Gene: ENSMUSG00000036908 AA Change: I136V
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 |
possibly damaging
Transcript: ENSMUST00000165711
AA Change: I136V
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128751 Gene: ENSMUSG00000036908 AA Change: I136V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,987,458 (GRCm39) |
V2914E |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Cc2d2b |
C |
T |
19: 40,804,275 (GRCm39) |
T934M |
unknown |
Het |
Ciao1 |
T |
C |
2: 127,084,916 (GRCm39) |
D274G |
probably damaging |
Het |
Cpne9 |
G |
T |
6: 113,271,732 (GRCm39) |
R364L |
possibly damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,171,313 (GRCm39) |
Y2150C |
probably damaging |
Het |
Hdac4 |
A |
T |
1: 91,929,956 (GRCm39) |
F177I |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,865,440 (GRCm39) |
V2906A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,468 (GRCm39) |
D94G |
probably benign |
Het |
Nudt14 |
A |
G |
12: 112,898,566 (GRCm39) |
L178P |
probably damaging |
Het |
Or14a258 |
C |
T |
7: 86,035,228 (GRCm39) |
M213I |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,882 (GRCm39) |
W361R |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,588,561 (GRCm39) |
S123I |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,423 (GRCm39) |
N199S |
probably benign |
Het |
Prr12 |
G |
T |
7: 44,693,020 (GRCm39) |
P1504Q |
unknown |
Het |
Pus7l |
T |
A |
15: 94,438,666 (GRCm39) |
I60L |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,656,894 (GRCm39) |
F795I |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,710,911 (GRCm39) |
L327P |
probably damaging |
Het |
Themis2 |
A |
G |
4: 132,510,657 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,049,781 (GRCm39) |
Q260* |
probably null |
Het |
Usp9y |
T |
A |
Y: 1,316,045 (GRCm39) |
Q2030L |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGGAGTCTTGTTCTTATCC -3'
(R):5'- AACAAGCAAGGCCTCTCTGC -3'
Sequencing Primer
(F):5'- ATCCTGGTCCTGATGAATACAG -3'
(R):5'- AGCAAGGCCTCTCTGCAGTTC -3'
|
Posted On |
2022-07-18 |