Incidental Mutation 'R0591:Ercc6'
| ID |
56001 |
| 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 |
038781-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R0591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 32279973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.7%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,774,704 (GRCm39) |
E1298* |
probably null |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,659,550 (GRCm39) |
Y334* |
probably null |
Het |
| Adam19 |
T |
C |
11: 46,012,238 (GRCm39) |
|
probably benign |
Het |
| Agt |
A |
T |
8: 125,283,678 (GRCm39) |
S480R |
possibly damaging |
Het |
| Anapc1 |
G |
T |
2: 128,461,252 (GRCm39) |
D1769E |
probably benign |
Het |
| Aox4 |
T |
C |
1: 58,278,261 (GRCm39) |
|
probably benign |
Het |
| Apol9b |
G |
A |
15: 77,619,830 (GRCm39) |
V209I |
possibly damaging |
Het |
| Appl2 |
A |
T |
10: 83,460,509 (GRCm39) |
I116K |
possibly damaging |
Het |
| BC051665 |
A |
G |
13: 60,932,422 (GRCm39) |
|
probably benign |
Het |
| Cactin |
G |
T |
10: 81,159,837 (GRCm39) |
E89* |
probably null |
Het |
| Carf |
G |
T |
1: 60,165,073 (GRCm39) |
|
probably benign |
Het |
| Ccdc167 |
A |
G |
17: 29,924,235 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,885,808 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,621,353 (GRCm39) |
K574* |
probably null |
Het |
| Crabp1 |
T |
A |
9: 54,672,887 (GRCm39) |
I64N |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,825,777 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,518,936 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
A |
T |
14: 104,060,710 (GRCm39) |
|
probably null |
Het |
| Golga3 |
A |
C |
5: 110,336,609 (GRCm39) |
Q416P |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,445 (GRCm39) |
V159A |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,956,884 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,873,909 (GRCm39) |
I2195T |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,569,295 (GRCm39) |
N76K |
possibly damaging |
Het |
| Hsd11b1 |
T |
C |
1: 192,911,984 (GRCm39) |
|
probably benign |
Het |
| Iftap |
A |
T |
2: 101,406,462 (GRCm39) |
D155E |
probably benign |
Het |
| Inhba |
A |
T |
13: 16,201,405 (GRCm39) |
K322N |
probably damaging |
Het |
| Katnal1 |
A |
T |
5: 148,829,326 (GRCm39) |
F291L |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,150,665 (GRCm39) |
E316G |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,823,935 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
G |
8: 13,068,751 (GRCm39) |
S1075A |
probably benign |
Het |
| Mios |
T |
C |
6: 8,215,470 (GRCm39) |
V222A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,433,827 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
T |
18: 64,633,638 (GRCm39) |
I544N |
probably damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,245,034 (GRCm39) |
L63P |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,768,387 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,796,932 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,138 (GRCm39) |
D213G |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,136,634 (GRCm39) |
N538D |
possibly damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,120,714 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
A |
10: 117,654,522 (GRCm39) |
|
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,244,520 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,804,220 (GRCm39) |
T550I |
possibly damaging |
Het |
| Samm50 |
G |
A |
15: 84,095,369 (GRCm39) |
G452R |
probably benign |
Het |
| Scin |
A |
G |
12: 40,130,929 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,854 (GRCm39) |
L81S |
probably damaging |
Het |
| Skint6 |
A |
C |
4: 112,715,366 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,527,160 (GRCm39) |
L411H |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,939,782 (GRCm39) |
|
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,525,665 (GRCm39) |
A255V |
probably damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,088,593 (GRCm39) |
N318S |
possibly damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,440,458 (GRCm39) |
H287L |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,849,962 (GRCm39) |
Y605N |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,227,037 (GRCm39) |
N1490K |
probably benign |
Het |
| Ube4b |
T |
G |
4: 149,442,034 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,225,228 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,500 (GRCm39) |
D82V |
probably damaging |
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 |
|
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 |
|
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'- GACTAACCAAATGCGAAGTGCCG -3'
(R):5'- TCTGTCTTGTTCAAGTTAACCAGCACC -3'
Sequencing Primer
(F):5'- TAGGTGCTCTCATGATAACCCAAG -3'
(R):5'- CAAGTTAACCAGCACCTATTAGAGTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation