Incidental Mutation 'IGL02631:Unc93b1'
| ID |
301325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc93b1
|
| Ensembl Gene |
ENSMUSG00000036908 |
| Gene Name |
unc-93 homolog B1, TLR signaling regulator |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 3992026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably 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 |
|
|
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 |
|
R9503:Unc93b1
|
UTSW |
19 |
3,986,373 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation