Incidental Mutation 'R0448:Ercc5'
| ID |
39420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc5
|
| Ensembl Gene |
ENSMUSG00000026048 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 5 |
| Synonyms |
Xpg |
| MMRRC Submission |
038648-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0448 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44186904-44220420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44213100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 742
(L742P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027214]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027214
AA Change: L742P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: L742P
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
98 |
3.49e-50 |
SMART |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
XPGI
|
776 |
845 |
1.02e-33 |
SMART |
|
HhH2
|
847 |
880 |
2.94e-11 |
SMART |
|
low complexity region
|
1130 |
1140 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131177
|
| Meta Mutation Damage Score |
0.5778 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
| Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,847,974 (GRCm39) |
G461S |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
| Arsi |
T |
C |
18: 61,050,374 (GRCm39) |
I419T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
| Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
| Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
| Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
| Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,326 (GRCm39) |
S330P |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
| Hephl1 |
C |
T |
9: 14,988,222 (GRCm39) |
G629S |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
| Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
| Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
| Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
| Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
| Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
| Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
| Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,205,628 (GRCm39) |
L474P |
probably damaging |
Het |
| Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
| S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
| Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
| Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
| Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
| Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
| Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
probably benign |
Het |
|
| Other mutations in Ercc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Ercc5
|
APN |
1 |
44,203,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00782:Ercc5
|
APN |
1 |
44,203,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Ercc5
|
APN |
1 |
44,206,440 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01710:Ercc5
|
APN |
1 |
44,203,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Ercc5
|
APN |
1 |
44,206,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02589:Ercc5
|
APN |
1 |
44,203,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Ercc5
|
APN |
1 |
44,196,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Ercc5
|
APN |
1 |
44,206,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02999:Ercc5
|
APN |
1 |
44,206,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Ercc5
|
APN |
1 |
44,206,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03246:Ercc5
|
APN |
1 |
44,206,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Ercc5
|
UTSW |
1 |
44,215,136 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1120:Ercc5
|
UTSW |
1 |
44,201,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Ercc5
|
UTSW |
1 |
44,203,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Ercc5
|
UTSW |
1 |
44,217,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1462:Ercc5
|
UTSW |
1 |
44,219,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Ercc5
|
UTSW |
1 |
44,219,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1528:Ercc5
|
UTSW |
1 |
44,217,401 (GRCm39) |
nonsense |
probably null |
|
|
R1637:Ercc5
|
UTSW |
1 |
44,206,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1668:Ercc5
|
UTSW |
1 |
44,206,193 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1714:Ercc5
|
UTSW |
1 |
44,206,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1780:Ercc5
|
UTSW |
1 |
44,206,956 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1800:Ercc5
|
UTSW |
1 |
44,212,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1835:Ercc5
|
UTSW |
1 |
44,220,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1836:Ercc5
|
UTSW |
1 |
44,220,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1886:Ercc5
|
UTSW |
1 |
44,215,136 (GRCm39) |
nonsense |
probably null |
|
|
R2344:Ercc5
|
UTSW |
1 |
44,206,329 (GRCm39) |
missense |
probably benign |
|
|
R2680:Ercc5
|
UTSW |
1 |
44,196,133 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3033:Ercc5
|
UTSW |
1 |
44,219,734 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3919:Ercc5
|
UTSW |
1 |
44,201,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Ercc5
|
UTSW |
1 |
44,207,016 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4444:Ercc5
|
UTSW |
1 |
44,197,369 (GRCm39) |
frame shift |
probably null |
|
|
R4578:Ercc5
|
UTSW |
1 |
44,187,308 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4585:Ercc5
|
UTSW |
1 |
44,198,017 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4586:Ercc5
|
UTSW |
1 |
44,198,017 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4911:Ercc5
|
UTSW |
1 |
44,206,031 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4912:Ercc5
|
UTSW |
1 |
44,196,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Ercc5
|
UTSW |
1 |
44,215,125 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5155:Ercc5
|
UTSW |
1 |
44,219,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Ercc5
|
UTSW |
1 |
44,212,566 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5991:Ercc5
|
UTSW |
1 |
44,219,990 (GRCm39) |
nonsense |
probably null |
|
|
R6161:Ercc5
|
UTSW |
1 |
44,206,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6250:Ercc5
|
UTSW |
1 |
44,203,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Ercc5
|
UTSW |
1 |
44,213,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Ercc5
|
UTSW |
1 |
44,200,969 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7183:Ercc5
|
UTSW |
1 |
44,200,968 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7235:Ercc5
|
UTSW |
1 |
44,217,363 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7349:Ercc5
|
UTSW |
1 |
44,220,068 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7369:Ercc5
|
UTSW |
1 |
44,220,020 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7486:Ercc5
|
UTSW |
1 |
44,187,224 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7586:Ercc5
|
UTSW |
1 |
44,215,011 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7904:Ercc5
|
UTSW |
1 |
44,214,998 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7994:Ercc5
|
UTSW |
1 |
44,217,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8432:Ercc5
|
UTSW |
1 |
44,206,841 (GRCm39) |
nonsense |
probably null |
|
|
R8795:Ercc5
|
UTSW |
1 |
44,203,089 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9144:Ercc5
|
UTSW |
1 |
44,213,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Ercc5
|
UTSW |
1 |
44,217,503 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9295:Ercc5
|
UTSW |
1 |
44,198,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Ercc5
|
UTSW |
1 |
44,207,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Ercc5
|
UTSW |
1 |
44,219,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Ercc5
|
UTSW |
1 |
44,213,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGGAAATCCCAAGTGGAAAAC -3'
(R):5'- TGAGGTCCAACATGGCACACTG -3'
Sequencing Primer
(F):5'- GGAAAACACTGTAAGGCTTATTGGTC -3'
(R):5'- CTGGATGTAGGGAACGCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation