Incidental Mutation 'R7143:Ercc6'
| ID |
553572 |
| 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 |
045222-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R7143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32292262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1209
(E1209K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066807
AA Change: E1209K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: E1209K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
C |
T |
7: 103,708,422 (GRCm39) |
C129Y |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 111,474,333 (GRCm39) |
N374S |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,585,670 (GRCm39) |
S153P |
probably damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Ankrd17 |
C |
A |
5: 90,433,820 (GRCm39) |
A650S |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,739,893 (GRCm39) |
R16G |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,165 (GRCm39) |
L570P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,063,377 (GRCm39) |
F101L |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,198,992 (GRCm39) |
I89N |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,491,838 (GRCm38) |
V771I |
probably benign |
Het |
| Cenph |
A |
G |
13: 100,898,285 (GRCm39) |
V206A |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,663,966 (GRCm39) |
T253A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,816,457 (GRCm39) |
G939R |
probably benign |
Het |
| Cfap57 |
G |
A |
4: 118,477,906 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,791,673 (GRCm39) |
I166V |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,476,961 (GRCm39) |
V144E |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,300 (GRCm39) |
H357L |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,151 (GRCm39) |
V12E |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,806,331 (GRCm39) |
I289V |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,133,625 (GRCm39) |
C527R |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,976,956 (GRCm39) |
W1879G |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,645,076 (GRCm39) |
T504A |
possibly damaging |
Het |
| Efl1 |
C |
T |
7: 82,411,888 (GRCm39) |
P759L |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,821,627 (GRCm39) |
I351L |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,351,000 (GRCm39) |
M292K |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,244 (GRCm39) |
V468L |
probably benign |
Het |
| Fhl2 |
G |
T |
1: 43,181,011 (GRCm39) |
H60N |
probably damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Gata4 |
C |
A |
14: 63,442,066 (GRCm39) |
R252L |
probably damaging |
Het |
| Glt8d1 |
T |
A |
14: 30,728,602 (GRCm39) |
I10N |
probably damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,304 (GRCm39) |
Y25* |
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,591,759 (GRCm39) |
F108S |
unknown |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Gprc6a |
C |
T |
10: 51,490,986 (GRCm39) |
R921H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,940,450 (GRCm39) |
H129Q |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 52,008,251 (GRCm39) |
R31G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,972,106 (GRCm39) |
K945E |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,884,230 (GRCm39) |
M237I |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,519 (GRCm39) |
S361T |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,568,436 (GRCm39) |
F427L |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,683,609 (GRCm39) |
M430K |
possibly damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 192,986,873 (GRCm39) |
E53G |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,202,655 (GRCm39) |
I1266K |
|
Het |
| Nat8 |
A |
T |
6: 85,807,485 (GRCm39) |
I216K |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,156,524 (GRCm39) |
I454V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,120 (GRCm39) |
V153E |
probably damaging |
Het |
| Nlrp4f |
G |
C |
13: 65,347,166 (GRCm39) |
Q9E |
possibly damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,250 (GRCm39) |
I175N |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or1l4b |
A |
G |
2: 37,036,886 (GRCm39) |
T221A |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,363 (GRCm39) |
M28V |
probably benign |
Het |
| Or52n3 |
C |
T |
7: 104,530,393 (GRCm39) |
P160S |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,708 (GRCm39) |
N154S |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,934 (GRCm39) |
E302D |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,908,836 (GRCm39) |
V5048E |
unknown |
Het |
| Pcnt |
A |
G |
10: 76,224,894 (GRCm39) |
L1870S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,161 (GRCm39) |
Y48H |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,895,846 (GRCm39) |
V241I |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,033 (GRCm39) |
M3464L |
possibly damaging |
Het |
| Pofut2 |
T |
A |
10: 77,095,260 (GRCm39) |
I35N |
probably benign |
Het |
| Prss27 |
A |
G |
17: 24,264,632 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prss56 |
T |
A |
1: 87,115,875 (GRCm39) |
I583K |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,211,487 (GRCm39) |
E87G |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,007,338 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,955,848 (GRCm39) |
I62N |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,703,051 (GRCm39) |
I355F |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,488,752 (GRCm39) |
I868V |
possibly damaging |
Het |
| Spatc1l |
T |
A |
10: 76,405,765 (GRCm39) |
L323Q |
probably damaging |
Het |
| Speer4a2 |
T |
A |
5: 26,290,674 (GRCm39) |
I166F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,428,814 (GRCm39) |
V962A |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 133,032,482 (GRCm39) |
I92T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,856,010 (GRCm39) |
Y22* |
probably null |
Het |
| Tti1 |
T |
A |
2: 157,849,596 (GRCm39) |
M548L |
probably benign |
Het |
| Unc93b1 |
T |
C |
19: 3,985,204 (GRCm39) |
V4A |
unknown |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,646 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,648 (GRCm39) |
I30N |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,846 (GRCm39) |
M152L |
probably benign |
Het |
| Wdr20rt |
T |
G |
12: 65,272,692 (GRCm39) |
F52V |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,159,306 (GRCm39) |
H422Q |
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 |
|
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 |
|
R6925:Ercc6
|
UTSW |
14 |
32,284,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGAAGCAGGGTTCTTCCTATG -3'
(R):5'- AAGATTACCATGCTAGTCACGG -3'
Sequencing Primer
(F):5'- TTCTTCCTATGCAGGGGCGC -3'
(R):5'- ATGCTAGTCACGGCTCCCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation