Incidental Mutation 'R3620:Rad23a'
| ID |
268599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad23a
|
| Ensembl Gene |
ENSMUSG00000003813 |
| Gene Name |
RAD23 homolog A, nucleotide excision repair protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.282)
|
| Stock # |
R3620 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85561540-85567361 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 85567193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003911]
[ENSMUST00000003912]
[ENSMUST00000109761]
[ENSMUST00000128035]
|
| AlphaFold |
P54726 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003911
AA Change: M1T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
3 |
77 |
3.28e-23 |
SMART |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
UBA
|
163 |
200 |
8.76e-11 |
SMART |
|
STI1
|
229 |
272 |
5.7e-8 |
SMART |
|
low complexity region
|
296 |
307 |
N/A |
INTRINSIC |
|
UBA
|
319 |
356 |
9.11e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003912
|
| SMART Domains |
Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Calreticulin
|
23 |
258 |
2.7e-64 |
PFAM |
|
Pfam:Calreticulin
|
257 |
332 |
3.3e-24 |
PFAM |
|
low complexity region
|
358 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109761
AA Change: M1T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105383
Gene: ENSMUSG00000003813
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
3 |
77 |
3.28e-23 |
SMART |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
UBA
|
163 |
200 |
8.76e-11 |
SMART |
|
STI1
|
230 |
273 |
5.7e-8 |
SMART |
|
low complexity region
|
297 |
308 |
N/A |
INTRINSIC |
|
UBA
|
320 |
357 |
9.11e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128028
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128035
AA Change: M1T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115664
Gene: ENSMUSG00000003813
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
3 |
77 |
3.28e-23 |
SMART |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
UBA
|
163 |
200 |
8.76e-11 |
SMART |
|
STI1
|
230 |
273 |
5.7e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144675
|
| SMART Domains |
Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ifya_
|
2 |
18 |
3e-3 |
SMART |
|
STI1
|
44 |
87 |
5.7e-8 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9130 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice with a targeted disruption of this gene show no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
|
| Other mutations in Rad23a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Rad23a
|
APN |
8 |
85,562,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01974:Rad23a
|
APN |
8 |
85,565,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Rad23a
|
APN |
8 |
85,564,108 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5967:Rad23a
|
UTSW |
8 |
85,565,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Rad23a
|
UTSW |
8 |
85,564,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Rad23a
|
UTSW |
8 |
85,565,108 (GRCm39) |
missense |
probably benign |
|
|
R9630:Rad23a
|
UTSW |
8 |
85,564,919 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0028:Rad23a
|
UTSW |
8 |
85,565,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGTGCCACCTGAGCAG -3'
(R):5'- TGCGCATGTCTAAGGTAAGGTG -3'
Sequencing Primer
(F):5'- AGCTTGCAGGCTGGGAAC -3'
(R):5'- CATGTCTAAGGTAAGGTGCAGCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation