Incidental Mutation 'IGL01088:Unc93b1'
| ID |
53239 |
| 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 # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 3985356 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: ENSMUST00000162193
|
| Predicted Effect |
probably null
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 null
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Unc93b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9503:Unc93b1
|
UTSW |
19 |
3,986,373 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2013-06-21 |
Incidental Mutation