Incidental Mutation 'R1506:Ercc6'
ID |
167952 |
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 |
039554-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R1506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32291821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1062
(I1062F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
AlphaFold |
F8VPZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: I1062F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000066256 Gene: ENSMUSG00000054051 AA Change: I1062F
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
G |
T |
11: 94,248,144 (GRCm39) |
T1152K |
possibly damaging |
Het |
Acp3 |
T |
A |
9: 104,201,373 (GRCm39) |
T82S |
probably damaging |
Het |
Adam23 |
C |
T |
1: 63,586,973 (GRCm39) |
P445S |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,582,651 (GRCm39) |
|
probably benign |
Het |
Artn |
A |
G |
4: 117,784,058 (GRCm39) |
V136A |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,965,806 (GRCm39) |
T2403A |
probably damaging |
Het |
Bbof1 |
G |
T |
12: 84,470,273 (GRCm39) |
V120L |
probably damaging |
Het |
Boc |
A |
G |
16: 44,323,928 (GRCm39) |
Y158H |
probably damaging |
Het |
Casp8 |
A |
G |
1: 58,863,355 (GRCm39) |
E105G |
probably damaging |
Het |
Cers4 |
T |
C |
8: 4,570,557 (GRCm39) |
F206L |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,126,479 (GRCm39) |
T78A |
probably benign |
Het |
Creb3 |
A |
T |
4: 43,566,193 (GRCm39) |
T263S |
possibly damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,766,443 (GRCm39) |
V384A |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,080,994 (GRCm39) |
V879M |
probably damaging |
Het |
Dnah17 |
C |
A |
11: 118,016,213 (GRCm39) |
V14F |
possibly damaging |
Het |
Epb41l4b |
T |
A |
4: 57,088,824 (GRCm39) |
K144N |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat2 |
C |
A |
11: 55,175,090 (GRCm39) |
E1874D |
probably benign |
Het |
Fbxw21 |
T |
A |
9: 108,977,257 (GRCm39) |
I151F |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,357,007 (GRCm39) |
I33V |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,256,761 (GRCm39) |
|
probably benign |
Het |
Gpr63 |
G |
A |
4: 25,008,227 (GRCm39) |
R317H |
probably damaging |
Het |
Grip1 |
C |
A |
10: 119,814,356 (GRCm39) |
H296N |
probably damaging |
Het |
Gtdc1 |
A |
T |
2: 44,465,506 (GRCm39) |
M288K |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,724,509 (GRCm39) |
D488E |
possibly damaging |
Het |
Gvin3 |
C |
T |
7: 106,200,788 (GRCm39) |
D819N |
probably benign |
Het |
Heatr5b |
C |
A |
17: 79,060,576 (GRCm39) |
R2033L |
probably damaging |
Het |
Hsd17b2 |
T |
A |
8: 118,429,004 (GRCm39) |
|
probably null |
Het |
Ino80 |
A |
T |
2: 119,255,746 (GRCm39) |
L913* |
probably null |
Het |
Inppl1 |
A |
C |
7: 101,473,174 (GRCm39) |
S1159A |
probably benign |
Het |
Kcnk7 |
G |
A |
19: 5,756,140 (GRCm39) |
C122Y |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,620,962 (GRCm39) |
|
probably benign |
Het |
Muc4 |
A |
T |
16: 32,574,033 (GRCm39) |
S704C |
possibly damaging |
Het |
Nckap5 |
A |
T |
1: 125,953,650 (GRCm39) |
C967* |
probably null |
Het |
Nek10 |
T |
C |
14: 14,999,078 (GRCm38) |
|
probably benign |
Het |
Oas1h |
A |
T |
5: 121,009,951 (GRCm39) |
D342V |
possibly damaging |
Het |
Or10j2 |
A |
G |
1: 173,098,336 (GRCm39) |
N198S |
probably benign |
Het |
Or2ak7 |
T |
A |
11: 58,575,014 (GRCm39) |
L105Q |
probably benign |
Het |
Or2n1 |
A |
T |
17: 38,486,091 (GRCm39) |
M39L |
probably benign |
Het |
Or4m1 |
A |
G |
14: 50,557,941 (GRCm39) |
V117A |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,439 (GRCm39) |
M34T |
probably benign |
Het |
Prex1 |
A |
T |
2: 166,429,001 (GRCm39) |
V694E |
probably damaging |
Het |
Rad50 |
G |
A |
11: 53,570,312 (GRCm39) |
A810V |
probably damaging |
Het |
Rcor1 |
T |
C |
12: 111,076,271 (GRCm39) |
S410P |
probably damaging |
Het |
Rps14 |
A |
T |
18: 60,909,551 (GRCm39) |
N26I |
probably benign |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Slc5a1 |
T |
A |
5: 33,312,052 (GRCm39) |
N481K |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,009,683 (GRCm39) |
|
probably null |
Het |
Spart |
T |
C |
3: 55,024,992 (GRCm39) |
S196P |
probably damaging |
Het |
Speg |
A |
G |
1: 75,394,307 (GRCm39) |
T1701A |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,862,365 (GRCm39) |
N271S |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,228 (GRCm39) |
L366F |
possibly damaging |
Het |
Tnc |
G |
A |
4: 63,925,921 (GRCm39) |
T953I |
possibly damaging |
Het |
Uqcc1 |
A |
G |
2: 155,753,738 (GRCm39) |
S46P |
probably damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,499,099 (GRCm39) |
|
probably null |
Het |
Vmn2r7 |
T |
A |
3: 64,614,500 (GRCm39) |
Y438F |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,398,419 (GRCm39) |
K520N |
probably benign |
Het |
Vps52 |
T |
C |
17: 34,176,868 (GRCm39) |
L74P |
probably damaging |
Het |
Xpo5 |
G |
T |
17: 46,538,814 (GRCm39) |
M673I |
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,508,129 (GRCm39) |
V457A |
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 |
|
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'- TGTTCACTCTGACCAGTCCTGACG -3'
(R):5'- TCCACTCATCACTGAGAGATGCTCC -3'
Sequencing Primer
(F):5'- CACTGAGACAAGTGCTATTTTTGC -3'
(R):5'- CACTGAGAGATGCTCCAGTGTG -3'
|
Posted On |
2014-04-13 |