Incidental Mutation 'R6258:Ercc6'
| ID |
506500 |
| 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 |
044375-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R6258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32279813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 609
(D609E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: D609E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: D609E
| 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 |
noncoding transcript
Transcript: ENSMUST00000227434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228549
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (74/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
| Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
| AU041133 |
A |
G |
10: 81,986,992 (GRCm39) |
E215G |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,737,889 (GRCm39) |
L815Q |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,337,971 (GRCm39) |
C60R |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,117,093 (GRCm39) |
K84E |
probably damaging |
Het |
| Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,580,624 (GRCm39) |
V313I |
possibly damaging |
Het |
| Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
| Egflam |
T |
A |
15: 7,263,773 (GRCm39) |
T726S |
probably damaging |
Het |
| Eml2 |
T |
G |
7: 18,913,289 (GRCm39) |
|
probably null |
Het |
| Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,114,513 (GRCm39) |
I125M |
possibly damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,702,825 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
T |
A |
10: 93,880,161 (GRCm39) |
N338K |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm32742 |
T |
A |
9: 51,068,862 (GRCm39) |
I200F |
probably damaging |
Het |
| Gm4924 |
T |
G |
10: 82,213,307 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
G |
A |
19: 11,488,973 (GRCm39) |
A87T |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
| Ighv5-8 |
A |
G |
12: 113,618,611 (GRCm39) |
T9A |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jakmip1 |
G |
T |
5: 37,299,104 (GRCm39) |
E775* |
probably null |
Het |
| Klhl40 |
T |
C |
9: 121,607,026 (GRCm39) |
F62S |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,572 (GRCm39) |
R84W |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,360,496 (GRCm39) |
|
probably null |
Het |
| Magi3 |
A |
G |
3: 103,996,912 (GRCm39) |
L211P |
probably damaging |
Het |
| Map2k5 |
T |
A |
9: 63,124,647 (GRCm39) |
I359F |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
| Mef2c |
T |
A |
13: 83,801,057 (GRCm39) |
D252E |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,422 (GRCm39) |
V111A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,456,581 (GRCm39) |
|
probably null |
Het |
| Nisch |
T |
A |
14: 30,899,085 (GRCm39) |
|
probably benign |
Het |
| Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,758,181 (GRCm39) |
N300D |
probably damaging |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,316,546 (GRCm39) |
D168G |
possibly damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
| Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
| Samm50 |
C |
G |
15: 84,084,512 (GRCm39) |
P150A |
probably damaging |
Het |
| Samm50 |
C |
A |
15: 84,084,513 (GRCm39) |
P150H |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,818,164 (GRCm39) |
C284* |
probably null |
Het |
| Smc3 |
T |
A |
19: 53,616,162 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,778 (GRCm39) |
L102P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,145 (GRCm39) |
W76R |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
| Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,813,208 (GRCm39) |
|
probably null |
Het |
| Ung |
A |
T |
5: 114,275,361 (GRCm39) |
Y250F |
probably benign |
Het |
| Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
| Wdr97 |
C |
A |
15: 76,239,895 (GRCm39) |
S277* |
probably null |
Het |
| Zfp1007 |
T |
C |
5: 109,824,433 (GRCm39) |
H339R |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zscan4-ps1 |
C |
A |
7: 10,799,829 (GRCm39) |
E353D |
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 |
|
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'- GACTGCCTTACTTGAGGGTTCC -3'
(R):5'- GAAACTCCCCTCTTTGTAAGCAAC -3'
Sequencing Primer
(F):5'- TCCACTTTAGGGTGCTAACTG -3'
(R):5'- CCATACCTGTTTGCAAGCAAGGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation