Incidental Mutation 'R8912:Ercc6'
| ID |
678714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc6
|
| Ensembl Gene |
ENSMUSG00000054051 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 6 |
| Synonyms |
CS group B correcting gene, C130058G22Rik, CSB |
| MMRRC Submission |
068765-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R8912 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32248211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 254
(P254L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: P254L
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: P254L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CVO|A
|
82 |
160 |
1e-36 |
PDB |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
DEXDc
|
499 |
699 |
8.34e-33 |
SMART |
|
Blast:DEXDc
|
720 |
821 |
7e-56 |
BLAST |
|
HELICc
|
865 |
948 |
1.41e-21 |
SMART |
|
low complexity region
|
1364 |
1377 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
C |
T |
5: 113,861,767 (GRCm39) |
W34* |
probably null |
Het |
| Adck5 |
T |
C |
15: 76,477,435 (GRCm39) |
S90P |
probably damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,273 (GRCm39) |
A1092S |
possibly damaging |
Het |
| Arhgap33 |
A |
T |
7: 30,232,467 (GRCm39) |
|
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,979 (GRCm39) |
|
probably null |
Het |
| Brd2 |
A |
T |
17: 34,332,458 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,097 (GRCm39) |
|
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,599 (GRCm39) |
V108A |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,323 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,689,869 (GRCm39) |
H22L |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,468,513 (GRCm39) |
Y251C |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,878 (GRCm39) |
N273K |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,531,164 (GRCm39) |
V137A |
possibly damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,240,420 (GRCm39) |
E789G |
possibly damaging |
Het |
| Fbxl13 |
T |
G |
5: 21,727,184 (GRCm39) |
D571A |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,717 (GRCm39) |
E159V |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 8,019,778 (GRCm39) |
I134V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,938 (GRCm39) |
D2419G |
probably benign |
Het |
| Gm3371 |
T |
C |
14: 44,641,238 (GRCm39) |
K109E |
|
Het |
| Gm5414 |
A |
G |
15: 101,536,620 (GRCm39) |
S2P |
possibly damaging |
Het |
| Igkv1-110 |
G |
T |
6: 68,247,950 (GRCm39) |
D20Y |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,603,513 (GRCm39) |
D422G |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,655 (GRCm39) |
D592E |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,159,368 (GRCm39) |
I215T |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,424 (GRCm39) |
L590Q |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,680,929 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
G |
18: 86,479,173 (GRCm39) |
D159G |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,220,030 (GRCm38) |
K104E |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,366 (GRCm39) |
V1256A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Or13e8 |
T |
A |
4: 43,697,017 (GRCm39) |
D52V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Or9m1b |
C |
T |
2: 87,836,661 (GRCm39) |
A145T |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,385,565 (GRCm39) |
H444R |
|
Het |
| Pclo |
T |
C |
5: 14,825,335 (GRCm39) |
L1356P |
|
Het |
| Pde4dip |
A |
G |
3: 97,617,633 (GRCm39) |
S1732P |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,230 (GRCm39) |
I25N |
|
Het |
| Pira13 |
A |
T |
7: 3,825,818 (GRCm39) |
D350E |
unknown |
Het |
| Pou2f3 |
C |
A |
9: 43,110,336 (GRCm39) |
V30L |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
A |
4: 43,938,802 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,475,323 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
C |
10: 57,400,075 (GRCm39) |
S191A |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,056,560 (GRCm39) |
S915P |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,486 (GRCm39) |
T79A |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,069,919 (GRCm39) |
V207A |
possibly damaging |
Het |
| Skap1 |
A |
T |
11: 96,644,902 (GRCm39) |
I338F |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,305,361 (GRCm39) |
|
probably benign |
Het |
| Sowahc |
G |
T |
10: 59,057,813 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,875,136 (GRCm39) |
K800E |
possibly damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,433 (GRCm39) |
W151R |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,623,686 (GRCm39) |
T438A |
possibly damaging |
Het |
| Srrm2 |
A |
G |
17: 24,038,575 (GRCm39) |
T1740A |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,534,014 (GRCm39) |
S347C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,566,860 (GRCm39) |
S185P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,758,153 (GRCm39) |
T638I |
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,478 (GRCm39) |
Y472H |
probably damaging |
Het |
| Trav4-2 |
C |
G |
14: 53,656,266 (GRCm39) |
Y89* |
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,918,628 (GRCm39) |
R1540L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,770,367 (GRCm39) |
|
probably null |
Het |
| Tti1 |
A |
G |
2: 157,851,188 (GRCm39) |
V17A |
probably benign |
Het |
| Vamp8 |
A |
G |
6: 72,365,276 (GRCm39) |
L44P |
probably benign |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,131 (GRCm39) |
S167Y |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,891,913 (GRCm39) |
V710A |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,374,655 (GRCm39) |
D453G |
probably benign |
Het |
|
| Other mutations in Ercc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Ercc6
|
APN |
14 |
32,290,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Ercc6
|
APN |
14 |
32,291,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00916:Ercc6
|
APN |
14 |
32,284,612 (GRCm39) |
intron |
probably benign |
|
|
IGL01743:Ercc6
|
APN |
14 |
32,274,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01802:Ercc6
|
APN |
14 |
32,284,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01886:Ercc6
|
APN |
14 |
32,291,537 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02100:Ercc6
|
APN |
14 |
32,239,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02115:Ercc6
|
APN |
14 |
32,298,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Ercc6
|
APN |
14 |
32,297,705 (GRCm39) |
splice site |
probably benign |
|
|
IGL02964:Ercc6
|
APN |
14 |
32,292,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02998:Ercc6
|
APN |
14 |
32,279,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03150:Ercc6
|
APN |
14 |
32,280,531 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0152:Ercc6
|
UTSW |
14 |
32,268,862 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0519:Ercc6
|
UTSW |
14 |
32,248,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Ercc6
|
UTSW |
14 |
32,279,973 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Ercc6
|
UTSW |
14 |
32,238,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0946:Ercc6
|
UTSW |
14 |
32,274,578 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1313:Ercc6
|
UTSW |
14 |
32,274,677 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Ercc6
|
UTSW |
14 |
32,291,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1528:Ercc6
|
UTSW |
14 |
32,240,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1711:Ercc6
|
UTSW |
14 |
32,248,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Ercc6
|
UTSW |
14 |
32,298,956 (GRCm39) |
missense |
probably benign |
|
|
R1795:Ercc6
|
UTSW |
14 |
32,238,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1843:Ercc6
|
UTSW |
14 |
32,268,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1853:Ercc6
|
UTSW |
14 |
32,298,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1859:Ercc6
|
UTSW |
14 |
32,248,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Ercc6
|
UTSW |
14 |
32,298,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Ercc6
|
UTSW |
14 |
32,288,366 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2322:Ercc6
|
UTSW |
14 |
32,248,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2386:Ercc6
|
UTSW |
14 |
32,263,316 (GRCm39) |
splice site |
probably null |
|
|
R4170:Ercc6
|
UTSW |
14 |
32,288,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Ercc6
|
UTSW |
14 |
32,239,164 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4389:Ercc6
|
UTSW |
14 |
32,296,865 (GRCm39) |
nonsense |
probably null |
|
|
R4747:Ercc6
|
UTSW |
14 |
32,291,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Ercc6
|
UTSW |
14 |
32,296,886 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4840:Ercc6
|
UTSW |
14 |
32,263,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Ercc6
|
UTSW |
14 |
32,296,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Ercc6
|
UTSW |
14 |
32,292,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5069:Ercc6
|
UTSW |
14 |
32,292,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5070:Ercc6
|
UTSW |
14 |
32,292,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5093:Ercc6
|
UTSW |
14 |
32,289,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Ercc6
|
UTSW |
14 |
32,291,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5272:Ercc6
|
UTSW |
14 |
32,240,985 (GRCm39) |
nonsense |
probably null |
|
|
R5499:Ercc6
|
UTSW |
14 |
32,238,916 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5795:Ercc6
|
UTSW |
14 |
32,248,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6258:Ercc6
|
UTSW |
14 |
32,279,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Ercc6
|
UTSW |
14 |
32,279,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6267:Ercc6
|
UTSW |
14 |
32,248,360 (GRCm39) |
nonsense |
probably null |
|
|
R6291:Ercc6
|
UTSW |
14 |
32,291,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6296:Ercc6
|
UTSW |
14 |
32,248,360 (GRCm39) |
nonsense |
probably null |
|
|
R6361:Ercc6
|
UTSW |
14 |
32,239,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6500:Ercc6
|
UTSW |
14 |
32,248,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6555:Ercc6
|
UTSW |
14 |
32,239,064 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6724:Ercc6
|
UTSW |
14 |
32,288,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6925:Ercc6
|
UTSW |
14 |
32,284,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7143:Ercc6
|
UTSW |
14 |
32,292,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Ercc6
|
UTSW |
14 |
32,248,361 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7396:Ercc6
|
UTSW |
14 |
32,291,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7529:Ercc6
|
UTSW |
14 |
32,282,686 (GRCm39) |
nonsense |
probably null |
|
|
R7609:Ercc6
|
UTSW |
14 |
32,288,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7802:Ercc6
|
UTSW |
14 |
32,239,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Ercc6
|
UTSW |
14 |
32,288,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Ercc6
|
UTSW |
14 |
32,284,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8181:Ercc6
|
UTSW |
14 |
32,279,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Ercc6
|
UTSW |
14 |
32,242,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8388:Ercc6
|
UTSW |
14 |
32,292,297 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8479:Ercc6
|
UTSW |
14 |
32,248,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Ercc6
|
UTSW |
14 |
32,282,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8849:Ercc6
|
UTSW |
14 |
32,291,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Ercc6
|
UTSW |
14 |
32,291,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9309:Ercc6
|
UTSW |
14 |
32,240,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Ercc6
|
UTSW |
14 |
32,284,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Ercc6
|
UTSW |
14 |
32,284,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Ercc6
|
UTSW |
14 |
32,296,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Ercc6
|
UTSW |
14 |
32,297,755 (GRCm39) |
missense |
probably benign |
|
|
R9699:Ercc6
|
UTSW |
14 |
32,282,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:Ercc6
|
UTSW |
14 |
32,298,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ercc6
|
UTSW |
14 |
32,248,444 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGAGAGAGTGATTGC -3'
(R):5'- GCTTGTCTGTCTGAGAGAGC -3'
Sequencing Primer
(F):5'- ACCTGTGAGAGAGTGATTGCTTTCC -3'
(R):5'- CTGTCTGAGAGAGCACTTGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation