Incidental Mutation 'R6566:Uvssa'
| ID |
522663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uvssa
|
| Ensembl Gene |
ENSMUSG00000037355 |
| Gene Name |
UV stimulated scaffold protein A |
| Synonyms |
D330017J19Rik, 4933407H18Rik |
| MMRRC Submission |
044690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33535893-33577098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33549520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 394
(R394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087864]
[ENSMUST00000202046]
[ENSMUST00000202816]
|
| AlphaFold |
Q9D479 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087864
AA Change: R394G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: R394G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
169 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
388 |
N/A |
INTRINSIC |
|
Pfam:DUF2043
|
504 |
610 |
6e-43 |
PFAM |
|
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
648 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202046
AA Change: R394G
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355
AA Change: R394G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
169 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202816
AA Change: R394G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: R394G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
169 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
388 |
N/A |
INTRINSIC |
|
Pfam:DUF2043
|
504 |
610 |
6e-43 |
PFAM |
|
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
648 |
662 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1032 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
| Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,210 (GRCm39) |
M131T |
probably damaging |
Het |
| Dcstamp |
T |
C |
15: 39,617,732 (GRCm39) |
F47S |
possibly damaging |
Het |
| Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
| Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
| Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
| Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
| Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
| Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
| Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
| Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,912,966 (GRCm39) |
V614A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,247,067 (GRCm39) |
S524P |
probably damaging |
Het |
| Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
| Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
| Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
| Zfp944 |
T |
G |
17: 22,558,726 (GRCm39) |
K174Q |
possibly damaging |
Het |
|
| Other mutations in Uvssa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Uvssa
|
APN |
5 |
33,566,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02136:Uvssa
|
APN |
5 |
33,549,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02339:Uvssa
|
APN |
5 |
33,572,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03096:Uvssa
|
APN |
5 |
33,568,268 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03130:Uvssa
|
APN |
5 |
33,549,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03248:Uvssa
|
APN |
5 |
33,549,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blinkered
|
UTSW |
5 |
33,547,096 (GRCm39) |
missense |
probably benign |
0.04 |
|
lowbrow
|
UTSW |
5 |
33,571,228 (GRCm39) |
splice site |
probably benign |
|
|
BB001:Uvssa
|
UTSW |
5 |
33,568,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Uvssa
|
UTSW |
5 |
33,568,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Uvssa
|
UTSW |
5 |
33,559,914 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
PIT4142001:Uvssa
|
UTSW |
5 |
33,549,428 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0326:Uvssa
|
UTSW |
5 |
33,566,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0443:Uvssa
|
UTSW |
5 |
33,546,168 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1438:Uvssa
|
UTSW |
5 |
33,571,228 (GRCm39) |
splice site |
probably benign |
|
|
R1474:Uvssa
|
UTSW |
5 |
33,546,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1521:Uvssa
|
UTSW |
5 |
33,571,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Uvssa
|
UTSW |
5 |
33,545,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Uvssa
|
UTSW |
5 |
33,547,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2223:Uvssa
|
UTSW |
5 |
33,549,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Uvssa
|
UTSW |
5 |
33,547,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3405:Uvssa
|
UTSW |
5 |
33,547,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3406:Uvssa
|
UTSW |
5 |
33,547,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3892:Uvssa
|
UTSW |
5 |
33,547,096 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4624:Uvssa
|
UTSW |
5 |
33,547,300 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4898:Uvssa
|
UTSW |
5 |
33,571,257 (GRCm39) |
nonsense |
probably null |
|
|
R5413:Uvssa
|
UTSW |
5 |
33,568,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Uvssa
|
UTSW |
5 |
33,547,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Uvssa
|
UTSW |
5 |
33,547,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Uvssa
|
UTSW |
5 |
33,566,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Uvssa
|
UTSW |
5 |
33,566,461 (GRCm39) |
splice site |
probably null |
|
|
R7924:Uvssa
|
UTSW |
5 |
33,568,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Uvssa
|
UTSW |
5 |
33,566,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8196:Uvssa
|
UTSW |
5 |
33,568,311 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8252:Uvssa
|
UTSW |
5 |
33,549,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9104:Uvssa
|
UTSW |
5 |
33,571,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9208:Uvssa
|
UTSW |
5 |
33,571,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9276:Uvssa
|
UTSW |
5 |
33,572,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9320:Uvssa
|
UTSW |
5 |
33,547,365 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9658:Uvssa
|
UTSW |
5 |
33,568,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Uvssa
|
UTSW |
5 |
33,547,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAATGAGCATTCTCCCTC -3'
(R):5'- AGCAGATGGGTCCTCTCTTG -3'
Sequencing Primer
(F):5'- TCCTACAGGAAGGGGCATG -3'
(R):5'- CTCTTGGGAGAGGCTGATCTGAAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation