Incidental Mutation 'R8198:Unc93b1'
| ID |
635566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc93b1
|
| Ensembl Gene |
ENSMUSG00000036908 |
| Gene Name |
unc-93 homolog B1, TLR signaling regulator |
| Synonyms |
|
| MMRRC Submission |
067621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3991910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 215
(S215P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162708]
[ENSMUST00000165711]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162708
AA Change: S215P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: S215P
| 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 |
possibly damaging
Transcript: ENSMUST00000165711
AA Change: S215P
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: S215P
| 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 |
0.1110 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
| Aoah |
C |
T |
13: 21,101,290 (GRCm39) |
P270L |
probably damaging |
Het |
| AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,525,946 (GRCm39) |
V808A |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
| Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
| H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
| Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
| Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
| Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
| Leng8 |
C |
A |
7: 4,147,170 (GRCm39) |
R523S |
possibly damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
| Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
| Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
| Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
| Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
| Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,065,174 (GRCm39) |
I814V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
| Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
| Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
| Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,646,352 (GRCm39) |
F72I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
| Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
| Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
| Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
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 |
|
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 |
|
|
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'- ACTTCTTTGCCAACTTTAGCTAAGG -3'
(R):5'- TGGAAGGGAAGAGGTCTCTC -3'
Sequencing Primer
(F):5'- GCTAAGGTTCTTTAGGCAAACC -3'
(R):5'- AGAGGTCTCTCTCCATCACTAGAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation