Incidental Mutation 'R4016:Unc93b1'
| ID |
311965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc93b1
|
| Ensembl Gene |
ENSMUSG00000036908 |
| Gene Name |
unc-93 homolog B1, TLR signaling regulator |
| Synonyms |
|
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4016 (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 3993572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 338
(I338T)
|
| 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 damaging
Transcript: ENSMUST00000162708
AA Change: I338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: I338T
| 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 damaging
Transcript: ENSMUST00000165711
AA Change: I338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: I338T
| 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 |
0.2564 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
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 |
|
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 |
|
R9503:Unc93b1
|
UTSW |
19 |
3,986,373 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACTGCAGCTCACTTTTC -3'
(R):5'- GCATCTGAAATTCAAGTTTAGCCAG -3'
Sequencing Primer
(F):5'- CTGGAACTCTCTATGTAGACCAGG -3'
(R):5'- GACATCTTGTCTGTTCTTACCAGGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation