Incidental Mutation 'R5069:Ercc6'
| ID |
388571 |
| 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 |
042659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R5069 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32292020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1128
(V1128A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: V1128A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: V1128A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228549
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,749 (GRCm39) |
S739P |
possibly damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
| Actn2 |
A |
G |
13: 12,303,408 (GRCm39) |
I464T |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,054,325 (GRCm39) |
L1060P |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,220,694 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,719,369 (GRCm39) |
|
probably null |
Het |
| Ankrd27 |
A |
T |
7: 35,327,860 (GRCm39) |
K793N |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,211,714 (GRCm39) |
T90A |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,184,959 (GRCm39) |
H670L |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,217,736 (GRCm39) |
Y412C |
probably damaging |
Het |
| Ass1 |
C |
T |
2: 31,400,185 (GRCm39) |
T301M |
probably damaging |
Het |
| Baiap3 |
A |
T |
17: 25,468,082 (GRCm39) |
C283S |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,619,527 (GRCm39) |
L354P |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,263,458 (GRCm39) |
N126S |
probably benign |
Het |
| Cfap54 |
A |
C |
10: 92,773,636 (GRCm39) |
F135L |
probably benign |
Het |
| Dlg1 |
G |
T |
16: 31,503,113 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,632,013 (GRCm39) |
H1314R |
probably benign |
Het |
| Dsp |
A |
C |
13: 38,381,099 (GRCm39) |
T2615P |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,490,897 (GRCm39) |
C636S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,450 (GRCm39) |
Y513C |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,815,243 (GRCm39) |
T93A |
possibly damaging |
Het |
| Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
| Gm1043 |
T |
G |
5: 37,344,580 (GRCm39) |
L231R |
probably damaging |
Het |
| Gpr153 |
T |
A |
4: 152,364,340 (GRCm39) |
M132K |
probably damaging |
Het |
| Hbs1l |
T |
A |
10: 21,230,546 (GRCm39) |
S496T |
probably damaging |
Het |
| Inpp5f |
A |
G |
7: 128,278,451 (GRCm39) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 23,393,149 (GRCm39) |
C209Y |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,011,953 (GRCm39) |
V178D |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,474,673 (GRCm39) |
|
probably null |
Het |
| Letm2 |
G |
A |
8: 26,083,980 (GRCm39) |
Q84* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,793,002 (GRCm39) |
E646G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,676,570 (GRCm39) |
Y372N |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,237,564 (GRCm39) |
C218R |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,893,773 (GRCm39) |
I1130N |
possibly damaging |
Het |
| Neil3 |
A |
G |
8: 54,054,076 (GRCm39) |
S318P |
possibly damaging |
Het |
| Nhlh1 |
A |
G |
1: 171,881,467 (GRCm39) |
V133A |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,863,268 (GRCm39) |
S331A |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,794,862 (GRCm39) |
T882A |
probably benign |
Het |
| Or11g2 |
T |
A |
14: 50,856,197 (GRCm39) |
C173S |
probably damaging |
Het |
| Or11h4 |
C |
A |
14: 50,974,531 (GRCm39) |
L29F |
probably benign |
Het |
| Or52ab4 |
A |
T |
7: 102,987,229 (GRCm39) |
|
probably null |
Het |
| Or9s23 |
T |
A |
1: 92,501,135 (GRCm39) |
S81T |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,177,025 (GRCm39) |
M675K |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,390,555 (GRCm39) |
S97P |
probably benign |
Het |
| Pitpnm1 |
C |
T |
19: 4,161,140 (GRCm39) |
A897V |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,942,862 (GRCm39) |
V1274E |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,627,561 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
G |
A |
7: 144,068,210 (GRCm39) |
Q446* |
probably null |
Het |
| Psma2 |
G |
A |
13: 14,790,613 (GRCm39) |
V20I |
probably benign |
Het |
| Pwwp4a |
T |
C |
X: 72,171,577 (GRCm39) |
I323T |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,711,710 (GRCm39) |
L149* |
probably null |
Het |
| Rnf17 |
T |
C |
14: 56,743,385 (GRCm39) |
V1317A |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,997,285 (GRCm39) |
V1042M |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,850,759 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,424,343 (GRCm39) |
A434T |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,324,854 (GRCm39) |
N142I |
possibly damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,097,915 (GRCm39) |
R508H |
probably benign |
Het |
| Slc5a8 |
A |
T |
10: 88,722,460 (GRCm39) |
I98F |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,692 (GRCm39) |
S169T |
possibly damaging |
Het |
| Snx33 |
A |
T |
9: 56,833,475 (GRCm39) |
I198N |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,299 (GRCm39) |
T396A |
probably benign |
Het |
| Sva |
A |
T |
6: 42,015,351 (GRCm39) |
|
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,601 (GRCm39) |
N261S |
probably benign |
Het |
| Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
| Thoc2 |
C |
T |
X: 40,895,570 (GRCm39) |
E1491K |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,083,743 (GRCm39) |
Y278C |
probably benign |
Het |
| Tph2 |
T |
A |
10: 114,987,079 (GRCm39) |
Y237F |
probably benign |
Het |
| Trim35 |
C |
T |
14: 66,546,421 (GRCm39) |
|
probably benign |
Het |
| Trpm4 |
T |
G |
7: 44,959,893 (GRCm39) |
Y667S |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,106,337 (GRCm39) |
H541Q |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,387 (GRCm39) |
H709R |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,243,166 (GRCm39) |
V615I |
probably benign |
Het |
| Wars2 |
A |
G |
3: 99,094,849 (GRCm39) |
H48R |
probably damaging |
Het |
| Xlr4c |
T |
A |
X: 72,282,290 (GRCm39) |
K121M |
probably damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,254,688 (GRCm39) |
C1427* |
probably null |
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 |
|
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 |
|
R8912:Ercc6
|
UTSW |
14 |
32,248,211 (GRCm39) |
missense |
probably benign |
0.40 |
|
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'- AATGCTGCCACCCTGATTGG -3'
(R):5'- AATGCTTGGAGTTCTTGGCC -3'
Sequencing Primer
(F):5'- CCCTGATTGGAGAAAAACCTAAGGC -3'
(R):5'- GGACGTTTCTCTGTGGTCTCTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation