Incidental Mutation 'R1859:Ercc6'
ID |
204254 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R1859 (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 32248735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 429
(S429P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
AlphaFold |
F8VPZ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066807
AA Change: S429P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066256 Gene: ENSMUSG00000054051 AA Change: S429P
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: ENSMUST00000228017
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,637,268 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,349,530 (GRCm39) |
E467G |
probably damaging |
Het |
Alkbh8 |
A |
G |
9: 3,385,499 (GRCm39) |
D597G |
probably benign |
Het |
Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
Ano5 |
G |
T |
7: 51,196,581 (GRCm39) |
V138L |
probably damaging |
Het |
Aspg |
T |
A |
12: 112,087,606 (GRCm39) |
I319K |
possibly damaging |
Het |
Atp9b |
T |
C |
18: 80,793,135 (GRCm39) |
T970A |
possibly damaging |
Het |
Brd10 |
A |
C |
19: 29,732,323 (GRCm39) |
C230G |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,954,527 (GRCm39) |
M881L |
probably benign |
Het |
Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
Cdca5 |
T |
C |
19: 6,140,124 (GRCm39) |
V95A |
possibly damaging |
Het |
Cds2 |
A |
G |
2: 132,144,115 (GRCm39) |
Y297C |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,303,946 (GRCm39) |
G2371S |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,825,341 (GRCm39) |
V1213A |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,464,980 (GRCm39) |
I1557N |
probably benign |
Het |
Cntn5 |
C |
T |
9: 9,972,839 (GRCm39) |
E266K |
probably damaging |
Het |
Crtam |
G |
A |
9: 40,884,900 (GRCm39) |
T363M |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,328,712 (GRCm39) |
S3298P |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,009,226 (GRCm39) |
Y209N |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,281,333 (GRCm39) |
D561G |
possibly damaging |
Het |
Drosha |
A |
G |
15: 12,878,804 (GRCm39) |
K710R |
probably benign |
Het |
Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,069,306 (GRCm39) |
V521E |
probably damaging |
Het |
Fbxl7 |
A |
T |
15: 26,543,279 (GRCm39) |
L456Q |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
Foxc2 |
G |
T |
8: 121,843,364 (GRCm39) |
R4L |
probably damaging |
Het |
Glyctk |
C |
T |
9: 106,034,731 (GRCm39) |
V112I |
probably benign |
Het |
Guf1 |
G |
T |
5: 69,725,803 (GRCm39) |
G481* |
probably null |
Het |
Heatr1 |
T |
C |
13: 12,418,040 (GRCm39) |
L324S |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,853,350 (GRCm39) |
L57P |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,944 (GRCm39) |
C3080S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifit1 |
T |
A |
19: 34,624,944 (GRCm39) |
F27I |
probably benign |
Het |
Ift20 |
G |
T |
11: 78,430,860 (GRCm39) |
E68* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,686,042 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,553,006 (GRCm39) |
L38Q |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,907,078 (GRCm39) |
M2361K |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map3k9 |
A |
T |
12: 81,771,256 (GRCm39) |
S800R |
possibly damaging |
Het |
Mef2a |
A |
G |
7: 66,915,766 (GRCm39) |
S179P |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,007,145 (GRCm39) |
|
probably benign |
Het |
Mpg |
A |
G |
11: 32,181,957 (GRCm39) |
|
probably null |
Het |
Mpp7 |
A |
T |
18: 7,350,967 (GRCm39) |
*577K |
probably null |
Het |
Msh4 |
G |
T |
3: 153,611,517 (GRCm39) |
H35Q |
probably benign |
Het |
Mst1 |
G |
A |
9: 107,961,545 (GRCm39) |
V601I |
probably benign |
Het |
Myh10 |
T |
A |
11: 68,636,239 (GRCm39) |
N246K |
probably benign |
Het |
Myom3 |
C |
A |
4: 135,506,707 (GRCm39) |
N493K |
probably benign |
Het |
Mypn |
T |
C |
10: 62,981,969 (GRCm39) |
D537G |
probably benign |
Het |
Ncan |
A |
T |
8: 70,567,998 (GRCm39) |
M38K |
possibly damaging |
Het |
Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
Nos1 |
A |
T |
5: 118,043,527 (GRCm39) |
N601Y |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,538,825 (GRCm39) |
V794I |
probably benign |
Het |
Or10q12 |
T |
A |
19: 13,746,088 (GRCm39) |
Y127* |
probably null |
Het |
Or13a17 |
T |
A |
7: 140,271,571 (GRCm39) |
V251E |
possibly damaging |
Het |
Or13c7b |
A |
T |
4: 43,820,779 (GRCm39) |
I194N |
possibly damaging |
Het |
Or2y17 |
T |
C |
11: 49,232,211 (GRCm39) |
L284P |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,425 (GRCm39) |
I126V |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,886,372 (GRCm39) |
V1817A |
unknown |
Het |
Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,011 (GRCm39) |
N253S |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,808,263 (GRCm39) |
I42V |
probably benign |
Het |
Prom2 |
T |
G |
2: 127,383,017 (GRCm39) |
Q75P |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,217,938 (GRCm39) |
D669G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,474,407 (GRCm39) |
D245G |
probably benign |
Het |
Rpl22l1 |
T |
A |
3: 28,860,747 (GRCm39) |
|
probably null |
Het |
Sars2 |
T |
C |
7: 28,443,737 (GRCm39) |
V113A |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 79,894,473 (GRCm39) |
K1067* |
probably null |
Het |
Sec61g |
A |
G |
11: 16,456,371 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
A |
T |
2: 130,529,932 (GRCm39) |
M282K |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
Sparc |
A |
T |
11: 55,297,334 (GRCm39) |
|
probably null |
Het |
Thra |
T |
A |
11: 98,646,977 (GRCm39) |
C33S |
probably damaging |
Het |
Trrap |
A |
T |
5: 144,767,761 (GRCm39) |
T2293S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,724,989 (GRCm39) |
|
probably benign |
Het |
Vat1l |
T |
A |
8: 114,998,041 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,549 (GRCm39) |
I184F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,825,940 (GRCm39) |
I1192T |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,446 (GRCm39) |
S737P |
possibly damaging |
Het |
Zfp553 |
A |
G |
7: 126,834,517 (GRCm39) |
E24G |
probably benign |
Het |
Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
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'- AAACCTTTGGAGCCTGAGG -3'
(R):5'- AGATCTTTAGGGTGGCCTCC -3'
Sequencing Primer
(F):5'- CCTGAGGTGAGGCCAGAG -3'
(R):5'- TCCCGTAAGCAGCAGAGC -3'
|
Posted On |
2014-06-23 |