Incidental Mutation 'IGL02942:Unc93b1'
| ID |
364561 |
| 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 # |
IGL02942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3998686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 535
(M535K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124272
(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: M535K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: M535K
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
C |
15: 91,033,378 (GRCm39) |
D679E |
probably damaging |
Het |
| Adh6a |
A |
T |
3: 138,030,642 (GRCm39) |
D88V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,809,707 (GRCm39) |
V1123I |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,922,335 (GRCm39) |
V801A |
possibly damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,839,095 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
A |
G |
18: 34,743,680 (GRCm39) |
V215A |
possibly damaging |
Het |
| Cdk17 |
G |
A |
10: 93,074,830 (GRCm39) |
V454I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,470,182 (GRCm39) |
G1876D |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,768,356 (GRCm39) |
E125G |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,247,420 (GRCm39) |
G1602D |
probably damaging |
Het |
| Depdc7 |
A |
C |
2: 104,558,439 (GRCm39) |
L194R |
probably damaging |
Het |
| Dgke |
T |
G |
11: 88,946,195 (GRCm39) |
N202H |
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,883,798 (GRCm39) |
C233S |
probably damaging |
Het |
| Dmpk |
A |
C |
7: 18,826,166 (GRCm39) |
D542A |
probably damaging |
Het |
| Epb41l4a |
G |
A |
18: 34,007,254 (GRCm39) |
R246W |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,493 (GRCm39) |
Q1438L |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,643 (GRCm39) |
|
probably null |
Het |
| Gm10295 |
T |
C |
7: 71,000,250 (GRCm39) |
K110R |
unknown |
Het |
| Ifrd1 |
A |
G |
12: 40,267,375 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,296,624 (GRCm39) |
T365A |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,559,383 (GRCm39) |
K551R |
probably benign |
Het |
| Lama2 |
A |
T |
10: 26,917,216 (GRCm39) |
N2236K |
probably damaging |
Het |
| Larp7 |
A |
T |
3: 127,337,844 (GRCm39) |
I405N |
possibly damaging |
Het |
| Meltf |
C |
A |
16: 31,709,596 (GRCm39) |
Y432* |
probably null |
Het |
| Mst1r |
C |
A |
9: 107,790,352 (GRCm39) |
T655K |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,093,308 (GRCm39) |
P133L |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or52r1c |
A |
T |
7: 102,735,405 (GRCm39) |
M222L |
probably benign |
Het |
| Or5b102 |
A |
T |
19: 13,041,552 (GRCm39) |
Q259L |
probably benign |
Het |
| Or6a2 |
A |
G |
7: 106,600,561 (GRCm39) |
S169P |
possibly damaging |
Het |
| Pfkl |
A |
T |
10: 77,835,967 (GRCm39) |
|
probably null |
Het |
| Plekhb2 |
T |
C |
1: 34,916,073 (GRCm39) |
M204T |
probably damaging |
Het |
| Ptp4a2 |
G |
A |
4: 129,738,986 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
G |
16: 23,431,704 (GRCm39) |
T79A |
probably benign |
Het |
| Senp3 |
T |
C |
11: 69,568,815 (GRCm39) |
D410G |
probably benign |
Het |
| Slc16a5 |
T |
C |
11: 115,360,176 (GRCm39) |
F120L |
possibly damaging |
Het |
| Snrpe |
T |
C |
1: 133,536,669 (GRCm39) |
E37G |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,463,875 (GRCm39) |
T192A |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,668,960 (GRCm39) |
H742L |
possibly damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,858 (GRCm39) |
S375G |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,657 (GRCm39) |
L265P |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,597,318 (GRCm39) |
D158E |
probably damaging |
Het |
| Tesk2 |
A |
T |
4: 116,629,017 (GRCm39) |
H122L |
probably damaging |
Het |
| Tut7 |
T |
G |
13: 59,959,335 (GRCm39) |
N378H |
probably damaging |
Het |
| Vangl1 |
C |
A |
3: 102,091,347 (GRCm39) |
R246S |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,519,059 (GRCm39) |
T166I |
probably damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,349,500 (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 |
|
|
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 |
2015-12-18 |
Incidental Mutation