Incidental Mutation 'R1528:Ercc6'
| ID |
166394 |
| 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 |
039568-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R1528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32240979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 168
(N168Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066807
AA Change: N168Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: N168Y
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,530 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,186,020 (GRCm39) |
Y617C |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ano1 |
T |
G |
7: 144,149,303 (GRCm39) |
S853R |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,743 (GRCm39) |
S60R |
possibly damaging |
Het |
| Atp4b |
C |
A |
8: 13,439,693 (GRCm39) |
K176N |
possibly damaging |
Het |
| Atxn2 |
A |
T |
5: 121,940,171 (GRCm39) |
D982V |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,951,593 (GRCm39) |
F646S |
probably damaging |
Het |
| Bcl2l13 |
T |
C |
6: 120,847,755 (GRCm39) |
C136R |
possibly damaging |
Het |
| Bltp1 |
C |
T |
3: 37,106,684 (GRCm39) |
H5005Y |
unknown |
Het |
| Cacna1i |
A |
G |
15: 80,275,975 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
T |
A |
14: 77,305,379 (GRCm39) |
V11D |
possibly damaging |
Het |
| Cdnf |
A |
G |
2: 3,522,078 (GRCm39) |
D90G |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,078,965 (GRCm39) |
V323G |
probably benign |
Het |
| Chmp6 |
A |
G |
11: 119,807,541 (GRCm39) |
D128G |
probably benign |
Het |
| Clec18a |
A |
T |
8: 111,805,498 (GRCm39) |
M201K |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,644 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,952,419 (GRCm39) |
M493K |
probably damaging |
Het |
| Crygd |
A |
C |
1: 65,102,216 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
T |
C |
17: 57,373,935 (GRCm39) |
T543A |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,117,741 (GRCm39) |
C891* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,217,401 (GRCm39) |
K915* |
probably null |
Het |
| Esrp2 |
G |
T |
8: 106,863,384 (GRCm39) |
P6T |
unknown |
Het |
| Exoc1 |
A |
G |
5: 76,697,411 (GRCm39) |
K396R |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,836,387 (GRCm39) |
Y4039F |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,609,873 (GRCm39) |
L1047Q |
probably damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,738 (GRCm39) |
M35K |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,784,678 (GRCm39) |
G887D |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,269,658 (GRCm39) |
|
probably null |
Het |
| Homez |
A |
T |
14: 55,095,162 (GRCm39) |
M182K |
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,230,101 (GRCm39) |
S113N |
possibly damaging |
Het |
| Ifit3b |
T |
G |
19: 34,589,072 (GRCm39) |
S83A |
probably benign |
Het |
| Ildr2 |
A |
G |
1: 166,098,064 (GRCm39) |
|
probably null |
Het |
| Klhdc1 |
A |
T |
12: 69,309,972 (GRCm39) |
R291S |
probably benign |
Het |
| Krt77 |
T |
A |
15: 101,769,523 (GRCm39) |
I413F |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,046,070 (GRCm39) |
I14M |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,369,807 (GRCm39) |
R86S |
probably benign |
Het |
| Mroh8 |
C |
A |
2: 157,071,975 (GRCm39) |
G510V |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,470,033 (GRCm39) |
D1255E |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 125,952,659 (GRCm39) |
V1234I |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,081,723 (GRCm39) |
K668E |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,391,217 (GRCm39) |
M508T |
possibly damaging |
Het |
| Npffr1 |
A |
G |
10: 61,450,016 (GRCm39) |
M97V |
possibly damaging |
Het |
| Nsd3 |
G |
A |
8: 26,188,795 (GRCm39) |
V43M |
probably damaging |
Het |
| Nubp2 |
A |
G |
17: 25,103,388 (GRCm39) |
V163A |
probably damaging |
Het |
| Oas1e |
A |
T |
5: 120,926,054 (GRCm39) |
F338Y |
probably damaging |
Het |
| Oat |
C |
A |
7: 132,165,998 (GRCm39) |
G196C |
probably damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,897 (GRCm39) |
G194D |
probably damaging |
Het |
| Or52e8b |
A |
T |
7: 104,673,971 (GRCm39) |
L72Q |
probably damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,398 (GRCm39) |
L256P |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,710 (GRCm39) |
T23A |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,286,215 (GRCm39) |
S196P |
probably damaging |
Het |
| Pja2 |
C |
A |
17: 64,616,217 (GRCm39) |
S226I |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,390,120 (GRCm39) |
V1412A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,468,427 (GRCm39) |
S332P |
probably damaging |
Het |
| Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,268,582 (GRCm39) |
T844A |
probably damaging |
Het |
| Ripk1 |
C |
T |
13: 34,212,130 (GRCm39) |
P480L |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,064 (GRCm39) |
V363A |
probably damaging |
Het |
| Rnf19a |
A |
T |
15: 36,265,801 (GRCm39) |
S99T |
possibly damaging |
Het |
| Rnf224 |
G |
A |
2: 25,126,110 (GRCm39) |
T81I |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,349,681 (GRCm39) |
L23S |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,098,699 (GRCm39) |
F758L |
probably damaging |
Het |
| Smlr1 |
C |
A |
10: 25,411,976 (GRCm39) |
V4L |
possibly damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,825 (GRCm39) |
D34G |
probably damaging |
Het |
| Spaca5 |
A |
T |
X: 20,942,892 (GRCm39) |
T92S |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,581,540 (GRCm39) |
T161A |
|
Het |
| Swi5 |
C |
A |
2: 32,170,716 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,012,874 (GRCm39) |
D2689E |
probably benign |
Het |
| Tcof1 |
T |
A |
18: 60,948,071 (GRCm39) |
K1299* |
probably null |
Het |
| Tmprss11e |
G |
A |
5: 86,872,069 (GRCm39) |
T49I |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,555,210 (GRCm39) |
V309D |
possibly damaging |
Het |
| Trim30b |
C |
G |
7: 104,006,506 (GRCm39) |
V117L |
possibly damaging |
Het |
| Tsen2 |
C |
A |
6: 115,536,989 (GRCm39) |
H248Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,567,412 (GRCm39) |
Y19500C |
probably damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,613,696 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
C |
6: 125,585,254 (GRCm39) |
D712A |
possibly damaging |
Het |
| Wfdc2 |
A |
G |
2: 164,407,828 (GRCm39) |
K166E |
probably damaging |
Het |
| Xrcc2 |
T |
C |
5: 25,897,292 (GRCm39) |
D219G |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,858,989 (GRCm39) |
P1007S |
probably benign |
Het |
| Zdhhc17 |
A |
T |
10: 110,784,050 (GRCm39) |
|
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,439,979 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,181,411 (GRCm39) |
N423I |
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 |
|
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'- TTGTGGCTCTAAGAGGCATTCTGC -3'
(R):5'- AGAACTGCCCCTGAGTATGGATGG -3'
Sequencing Primer
(F):5'- TCTAAGAGGCATTCTGCTTCAG -3'
(R):5'- acacatactgacaaaacactcatac -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation