Incidental Mutation 'R4016:Unc93b1'
| ID |
311965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc93b1
|
| Ensembl Gene |
ENSMUSG00000036908 |
| Gene Name |
unc-93 homolog B1 (C. elegans) |
| Synonyms |
unc-93 homolog B, unc-93 related protein |
| 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 |
3935186-3949340 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3943572 bp (GRCm38)
|
| 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: 21,395,571 (GRCm38) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,983,906 (GRCm38) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,768,856 (GRCm38) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,653,756 (GRCm38) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 127,257,113 (GRCm38) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,649,631 (GRCm38) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,606,569 (GRCm38) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,191,171 (GRCm38) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,544,582 (GRCm38) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,004,606 (GRCm38) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 22,063,676 (GRCm38) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,394,106 (GRCm38) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 125,911,185 (GRCm38) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 47,188,715 (GRCm38) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,061 (GRCm38) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,173,085 (GRCm38) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,371,716 (GRCm38) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,462,947 (GRCm38) |
|
probably benign |
Het |
| Olfr1474 |
A |
T |
19: 13,471,197 (GRCm38) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 73,009,973 (GRCm38) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,399,749 (GRCm38) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,687,460 (GRCm38) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 (GRCm38) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,386,991 (GRCm38) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,955,390 (GRCm38) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,914,332 (GRCm38) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,142,792 (GRCm38) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,912,507 (GRCm38) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,683,927 (GRCm38) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,562,489 (GRCm38) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,135,190 (GRCm38) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,538,623 (GRCm38) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,285,904 (GRCm38) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,437,940 (GRCm38) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,026,433 (GRCm38) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,476,690 (GRCm38) |
N284K |
possibly damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,378,570 (GRCm38) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,415,639 (GRCm38) |
Q415* |
probably null |
Het |
|
| Other mutations in Unc93b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Unc93b1
|
APN |
19 |
3,935,356 (GRCm38) |
splice site |
probably null |
|
|
IGL02631:Unc93b1
|
APN |
19 |
3,942,026 (GRCm38) |
splice site |
probably benign |
|
|
IGL02942:Unc93b1
|
APN |
19 |
3,948,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Unc93b1
|
APN |
19 |
3,944,041 (GRCm38) |
missense |
probably benign |
|
|
3d
|
UTSW |
19 |
3,944,168 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
novelty
|
UTSW |
19 |
3,943,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
speciality
|
UTSW |
19 |
3,941,910 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0680:Unc93b1
|
UTSW |
19 |
3,947,093 (GRCm38) |
missense |
probably benign |
|
|
R1237:Unc93b1
|
UTSW |
19 |
3,935,228 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1557:Unc93b1
|
UTSW |
19 |
3,942,403 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1992:Unc93b1
|
UTSW |
19 |
3,944,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2435:Unc93b1
|
UTSW |
19 |
3,936,373 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4080:Unc93b1
|
UTSW |
19 |
3,941,959 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4479:Unc93b1
|
UTSW |
19 |
3,935,236 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4829:Unc93b1
|
UTSW |
19 |
3,944,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4947:Unc93b1
|
UTSW |
19 |
3,935,871 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4964:Unc93b1
|
UTSW |
19 |
3,942,023 (GRCm38) |
splice site |
probably null |
|
|
R4966:Unc93b1
|
UTSW |
19 |
3,942,023 (GRCm38) |
splice site |
probably null |
|
|
R5056:Unc93b1
|
UTSW |
19 |
3,942,762 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R5166:Unc93b1
|
UTSW |
19 |
3,944,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5441:Unc93b1
|
UTSW |
19 |
3,943,703 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5892:Unc93b1
|
UTSW |
19 |
3,943,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6382:Unc93b1
|
UTSW |
19 |
3,935,297 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6556:Unc93b1
|
UTSW |
19 |
3,944,105 (GRCm38) |
missense |
probably benign |
|
|
R6962:Unc93b1
|
UTSW |
19 |
3,936,303 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7143:Unc93b1
|
UTSW |
19 |
3,935,204 (GRCm38) |
missense |
unknown |
|
|
R7748:Unc93b1
|
UTSW |
19 |
3,935,250 (GRCm38) |
missense |
unknown |
|
|
R7866:Unc93b1
|
UTSW |
19 |
3,935,243 (GRCm38) |
missense |
not run |
|
|
R8198:Unc93b1
|
UTSW |
19 |
3,941,910 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R9212:Unc93b1
|
UTSW |
19 |
3,943,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9503:Unc93b1
|
UTSW |
19 |
3,936,373 (GRCm38) |
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