Incidental Mutation 'R6925:Ercc6'
ID |
541116 |
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 |
045043-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R6925 (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 32284565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 776
(I776N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
AlphaFold |
F8VPZ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066807
AA Change: I776N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066256 Gene: ENSMUSG00000054051 AA Change: I776N
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (91/91) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
T |
9: 53,503,329 (GRCm39) |
V170E |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,681 (GRCm39) |
I902F |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,773,594 (GRCm39) |
V1697A |
probably benign |
Het |
Ccdc14 |
T |
A |
16: 34,511,119 (GRCm39) |
F31Y |
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,455,407 (GRCm39) |
V250E |
probably damaging |
Het |
Cct7 |
A |
G |
6: 85,436,164 (GRCm39) |
N25S |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,824,436 (GRCm39) |
Q177R |
possibly damaging |
Het |
Cep19 |
G |
C |
16: 31,922,760 (GRCm39) |
G9R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,249,685 (GRCm39) |
|
probably null |
Het |
Chd1l |
T |
G |
3: 97,490,142 (GRCm39) |
E471A |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,855,047 (GRCm39) |
I787T |
probably damaging |
Het |
Cntnap5c |
A |
C |
17: 58,702,261 (GRCm39) |
T1194P |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,743,724 (GRCm39) |
M208L |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,446,538 (GRCm39) |
|
probably null |
Het |
Csrnp2 |
T |
C |
15: 100,379,839 (GRCm39) |
K484R |
probably benign |
Het |
Cyp2c39 |
T |
A |
19: 39,501,639 (GRCm39) |
V64E |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,701 (GRCm39) |
K300E |
probably benign |
Het |
Ddx56 |
T |
C |
11: 6,213,980 (GRCm39) |
E393G |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 37,986,732 (GRCm39) |
Y1084* |
probably null |
Het |
Disp1 |
A |
T |
1: 182,868,042 (GRCm39) |
F1459L |
probably benign |
Het |
Dnajc8 |
G |
A |
4: 132,271,424 (GRCm39) |
A80T |
probably damaging |
Het |
Elfn1 |
T |
A |
5: 139,957,440 (GRCm39) |
M148K |
probably benign |
Het |
Emcn |
T |
A |
3: 137,124,763 (GRCm39) |
I154N |
probably damaging |
Het |
Enah |
T |
A |
1: 181,733,464 (GRCm39) |
|
probably null |
Het |
Enah |
C |
G |
1: 181,733,463 (GRCm39) |
|
probably null |
Het |
Ep300 |
C |
A |
15: 81,534,182 (GRCm39) |
Q2080K |
probably benign |
Het |
Epha2 |
T |
A |
4: 141,036,068 (GRCm39) |
M168K |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat4 |
G |
T |
3: 39,050,353 (GRCm39) |
|
probably null |
Het |
G3bp1 |
A |
G |
11: 55,388,786 (GRCm39) |
R333G |
possibly damaging |
Het |
Gm3604 |
A |
G |
13: 62,517,204 (GRCm39) |
F385L |
probably benign |
Het |
Gm5800 |
T |
C |
14: 51,951,157 (GRCm39) |
I147M |
possibly damaging |
Het |
Hipk1 |
A |
G |
3: 103,685,561 (GRCm39) |
F18S |
unknown |
Het |
Ighv3-8 |
A |
T |
12: 114,285,950 (GRCm39) |
C131S |
probably benign |
Het |
Il23r |
T |
G |
6: 67,400,477 (GRCm39) |
T618P |
probably damaging |
Het |
Il31ra |
G |
A |
13: 112,664,063 (GRCm39) |
T538I |
possibly damaging |
Het |
Kcns2 |
A |
G |
15: 34,840,059 (GRCm39) |
D474G |
unknown |
Het |
Klc4 |
T |
C |
17: 46,947,155 (GRCm39) |
T407A |
possibly damaging |
Het |
Klra5 |
C |
T |
6: 129,888,420 (GRCm39) |
S2N |
probably benign |
Het |
Krt10 |
T |
C |
11: 99,279,677 (GRCm39) |
Y161C |
probably damaging |
Het |
Kxd1 |
A |
T |
8: 70,975,928 (GRCm39) |
M1K |
probably null |
Het |
Lgals1 |
A |
C |
15: 78,812,240 (GRCm39) |
D27A |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,302,251 (GRCm39) |
S308G |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,392,857 (GRCm39) |
S2736L |
probably benign |
Het |
Lrpap1 |
G |
T |
5: 35,259,880 (GRCm39) |
H73N |
probably benign |
Het |
Mcpt1 |
C |
A |
14: 56,256,522 (GRCm39) |
T86K |
probably damaging |
Het |
Megf6 |
A |
T |
4: 154,339,044 (GRCm39) |
D527V |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,936,351 (GRCm39) |
S1392T |
probably benign |
Het |
Mmp2 |
A |
T |
8: 93,566,010 (GRCm39) |
D437V |
probably damaging |
Het |
Mob4 |
T |
A |
1: 55,191,881 (GRCm39) |
Y166* |
probably null |
Het |
Mrap2 |
G |
A |
9: 87,064,527 (GRCm39) |
M89I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,858,746 (GRCm39) |
A1155T |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,084,044 (GRCm39) |
A1556S |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,845,954 (GRCm39) |
D1028G |
probably benign |
Het |
Ngef |
T |
G |
1: 87,430,985 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
A |
T |
11: 70,983,339 (GRCm39) |
L1209Q |
probably null |
Het |
Npr2 |
C |
T |
4: 43,647,553 (GRCm39) |
R819C |
probably damaging |
Het |
Nsd2 |
A |
T |
5: 34,036,454 (GRCm39) |
D646V |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,434,415 (GRCm39) |
H252R |
probably damaging |
Het |
Or2a25 |
T |
A |
6: 42,888,791 (GRCm39) |
C111* |
probably null |
Het |
Or2k2 |
A |
T |
4: 58,785,647 (GRCm39) |
I25N |
possibly damaging |
Het |
Or51a10 |
C |
T |
7: 103,698,947 (GRCm39) |
V205I |
probably benign |
Het |
Or8g32 |
A |
T |
9: 39,305,156 (GRCm39) |
Q20L |
probably benign |
Het |
Or8g32 |
G |
T |
9: 39,305,157 (GRCm39) |
Q20H |
probably benign |
Het |
Pcdhga2 |
A |
T |
18: 37,803,638 (GRCm39) |
D494V |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,655,667 (GRCm39) |
E617G |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,208,931 (GRCm39) |
I138T |
probably damaging |
Het |
Phc2 |
T |
A |
4: 128,641,927 (GRCm39) |
S750T |
probably damaging |
Het |
Pkd2l1 |
T |
A |
19: 44,179,947 (GRCm39) |
N88Y |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,445,757 (GRCm39) |
R71* |
probably null |
Het |
Prag1 |
C |
A |
8: 36,571,048 (GRCm39) |
L544M |
probably damaging |
Het |
Prkg2 |
A |
G |
5: 99,114,369 (GRCm39) |
|
probably null |
Het |
Psd2 |
G |
A |
18: 36,112,764 (GRCm39) |
S153N |
probably damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,643,000 (GRCm39) |
S600T |
probably damaging |
Het |
Rbms1 |
T |
G |
2: 60,592,648 (GRCm39) |
T222P |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,904,243 (GRCm39) |
Y382* |
probably null |
Het |
Socs4 |
T |
A |
14: 47,527,195 (GRCm39) |
C43* |
probably null |
Het |
Sorl1 |
T |
A |
9: 41,944,922 (GRCm39) |
T868S |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,174,963 (GRCm39) |
Y267C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,076,682 (GRCm39) |
V6879A |
probably benign |
Het |
Syne2 |
C |
A |
12: 75,900,906 (GRCm39) |
H22N |
possibly damaging |
Het |
Tmeff2 |
T |
A |
1: 50,967,180 (GRCm39) |
L25Q |
probably damaging |
Het |
Tmprss11g |
G |
T |
5: 86,635,285 (GRCm39) |
D396E |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,635,295 (GRCm39) |
H393L |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,681,512 (GRCm39) |
E140G |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,399,320 (GRCm39) |
S130P |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,884,541 (GRCm39) |
K982M |
probably damaging |
Het |
Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
Zfp719 |
T |
C |
7: 43,240,130 (GRCm39) |
S573P |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,999 (GRCm39) |
C237S |
possibly 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 |
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 |
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'- AGAAGACTGCCTGTGAGCAG -3'
(R):5'- ACTCCACAGATAGCAGGTGG -3'
Sequencing Primer
(F):5'- TGGAGAAAGGAAAACTCTCTTTAGC -3'
(R):5'- TGGGTGAACAACGTGGGC -3'
|
Posted On |
2018-11-28 |