Incidental Mutation 'R4389:Ercc6'
ID | 326341 |
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 |
041126-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly non essential (E-score: 0.347)
|
Stock # | R4389 (G1)
|
Quality Score | 225 |
Status |
Validated
|
Chromosome | 14 |
Chromosomal Location | 32513521-32580990 bp(+) (GRCm38) |
Type of Mutation | nonsense |
DNA Base Change (assembly) |
T to A
at 32574908 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 1285
(L1285*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000066807
AA Change: L1285*
|
SMART Domains |
Protein: ENSMUSP00000066256 Gene: ENSMUSG00000054051 AA Change: L1285*
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 |
0.9755
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
Validation Efficiency |
87% (26/30) |
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,297,878 |
T2542P |
probably damaging |
Het |
Adprm |
C |
T |
11: 67,038,193 |
R324K |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 |
|
probably benign |
Het |
Cd209b |
A |
G |
8: 3,925,960 |
L67P |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,967,500 |
K1560M |
probably benign |
Het |
Ctps |
T |
C |
4: 120,558,790 |
D212G |
probably damaging |
Het |
Gzma |
G |
T |
13: 113,098,388 |
|
probably null |
Het |
Kng2 |
T |
C |
16: 23,024,868 |
I120M |
possibly damaging |
Het |
Lhx3 |
C |
T |
2: 26,201,090 |
|
probably benign |
Het |
Mtfr1l |
T |
C |
4: 134,532,642 |
|
probably benign |
Het |
Ndufb4 |
T |
C |
16: 37,647,670 |
N126S |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,321,227 |
I380V |
probably benign |
Het |
Nptn |
A |
G |
9: 58,643,772 |
K361E |
probably damaging |
Het |
Olfr262 |
A |
G |
19: 12,241,139 |
V174A |
probably damaging |
Het |
Orc2 |
T |
C |
1: 58,474,861 |
D332G |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 36,954,789 |
V675A |
probably benign |
Het |
Rpl7a-ps3 |
G |
A |
15: 36,308,283 |
|
noncoding transcript |
Het |
Slc13a1 |
A |
T |
6: 24,092,398 |
|
probably null |
Het |
Tec |
A |
G |
5: 72,782,007 |
Y222H |
probably benign |
Het |
Ttll2 |
T |
A |
17: 7,351,200 |
R443* |
probably null |
Het |
Vmn1r66 |
A |
T |
7: 10,274,788 |
L106* |
probably null |
Het |
Zfp189 |
A |
G |
4: 49,529,934 |
R346G |
probably damaging |
Het |
|
Other mutations in Ercc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Ercc6
|
APN |
14 |
32568072 |
missense |
probably damaging |
1.00 |
IGL00796:Ercc6
|
APN |
14 |
32570002 |
missense |
probably benign |
0.01 |
IGL00916:Ercc6
|
APN |
14 |
32562655 |
intron |
probably benign |
|
IGL01743:Ercc6
|
APN |
14 |
32552604 |
missense |
probably damaging |
1.00 |
IGL01802:Ercc6
|
APN |
14 |
32562574 |
missense |
probably damaging |
0.99 |
IGL01886:Ercc6
|
APN |
14 |
32569580 |
missense |
possibly damaging |
0.90 |
IGL02100:Ercc6
|
APN |
14 |
32517095 |
missense |
probably benign |
0.00 |
IGL02115:Ercc6
|
APN |
14 |
32576993 |
missense |
probably damaging |
1.00 |
IGL02755:Ercc6
|
APN |
14 |
32575748 |
splice site |
probably benign |
|
IGL02964:Ercc6
|
APN |
14 |
32570103 |
missense |
probably benign |
0.00 |
IGL02998:Ercc6
|
APN |
14 |
32557857 |
missense |
probably benign |
0.05 |
IGL03150:Ercc6
|
APN |
14 |
32558574 |
missense |
probably damaging |
0.96 |
R0152:Ercc6
|
UTSW |
14 |
32546905 |
critical splice donor site |
probably benign |
|
R0519:Ercc6
|
UTSW |
14 |
32526842 |
missense |
probably damaging |
1.00 |
R0591:Ercc6
|
UTSW |
14 |
32558016 |
splice site |
probably benign |
|
R0894:Ercc6
|
UTSW |
14 |
32517028 |
missense |
probably benign |
0.05 |
R0946:Ercc6
|
UTSW |
14 |
32552621 |
missense |
probably benign |
0.08 |
R1313:Ercc6
|
UTSW |
14 |
32552720 |
splice site |
probably benign |
|
R1506:Ercc6
|
UTSW |
14 |
32569864 |
missense |
probably benign |
0.01 |
R1528:Ercc6
|
UTSW |
14 |
32519022 |
missense |
probably damaging |
0.98 |
R1711:Ercc6
|
UTSW |
14 |
32526176 |
missense |
probably damaging |
1.00 |
R1753:Ercc6
|
UTSW |
14 |
32576999 |
missense |
probably benign |
|
R1795:Ercc6
|
UTSW |
14 |
32517028 |
missense |
probably benign |
0.05 |
R1843:Ercc6
|
UTSW |
14 |
32546820 |
missense |
probably damaging |
0.99 |
R1853:Ercc6
|
UTSW |
14 |
32576816 |
missense |
possibly damaging |
0.86 |
R1859:Ercc6
|
UTSW |
14 |
32526778 |
missense |
probably damaging |
1.00 |
R1912:Ercc6
|
UTSW |
14 |
32576803 |
missense |
probably damaging |
1.00 |
R2308:Ercc6
|
UTSW |
14 |
32566409 |
missense |
possibly damaging |
0.70 |
R2322:Ercc6
|
UTSW |
14 |
32526317 |
missense |
probably damaging |
1.00 |
R2386:Ercc6
|
UTSW |
14 |
32541359 |
splice site |
probably null |
|
R4170:Ercc6
|
UTSW |
14 |
32566797 |
missense |
probably damaging |
1.00 |
R4369:Ercc6
|
UTSW |
14 |
32517207 |
missense |
probably damaging |
0.96 |
R4747:Ercc6
|
UTSW |
14 |
32569907 |
missense |
probably benign |
0.00 |
R4811:Ercc6
|
UTSW |
14 |
32574929 |
missense |
probably benign |
0.20 |
R4840:Ercc6
|
UTSW |
14 |
32541296 |
missense |
probably damaging |
1.00 |
R4973:Ercc6
|
UTSW |
14 |
32574902 |
missense |
probably damaging |
1.00 |
R5068:Ercc6
|
UTSW |
14 |
32570063 |
missense |
probably benign |
0.01 |
R5069:Ercc6
|
UTSW |
14 |
32570063 |
missense |
probably benign |
0.01 |
R5070:Ercc6
|
UTSW |
14 |
32570063 |
missense |
probably benign |
0.01 |
R5093:Ercc6
|
UTSW |
14 |
32567522 |
missense |
probably damaging |
1.00 |
R5265:Ercc6
|
UTSW |
14 |
32569623 |
missense |
probably benign |
0.01 |
R5272:Ercc6
|
UTSW |
14 |
32519028 |
nonsense |
probably null |
|
R5499:Ercc6
|
UTSW |
14 |
32516959 |
start codon destroyed |
probably null |
0.98 |
R5795:Ercc6
|
UTSW |
14 |
32526352 |
missense |
probably damaging |
0.98 |
R6258:Ercc6
|
UTSW |
14 |
32557856 |
missense |
probably benign |
0.00 |
R6260:Ercc6
|
UTSW |
14 |
32557856 |
missense |
probably benign |
0.00 |
R6267:Ercc6
|
UTSW |
14 |
32526403 |
nonsense |
probably null |
|
R6291:Ercc6
|
UTSW |
14 |
32569986 |
missense |
probably benign |
0.01 |
R6296:Ercc6
|
UTSW |
14 |
32526403 |
nonsense |
probably null |
|
R6361:Ercc6
|
UTSW |
14 |
32517110 |
missense |
probably benign |
0.00 |
R6500:Ercc6
|
UTSW |
14 |
32526823 |
missense |
probably damaging |
0.96 |
R6555:Ercc6
|
UTSW |
14 |
32517107 |
missense |
probably benign |
0.15 |
R6724:Ercc6
|
UTSW |
14 |
32566331 |
missense |
probably benign |
0.01 |
R6925:Ercc6
|
UTSW |
14 |
32562608 |
missense |
probably damaging |
0.99 |
R7143:Ercc6
|
UTSW |
14 |
32570305 |
missense |
probably damaging |
1.00 |
R7327:Ercc6
|
UTSW |
14 |
32526404 |
missense |
probably benign |
0.19 |
R7396:Ercc6
|
UTSW |
14 |
32569805 |
missense |
probably benign |
0.00 |
R7529:Ercc6
|
UTSW |
14 |
32560729 |
nonsense |
probably null |
|
R7609:Ercc6
|
UTSW |
14 |
32566361 |
missense |
probably benign |
0.11 |
R7802:Ercc6
|
UTSW |
14 |
32517303 |
missense |
probably damaging |
1.00 |
R7854:Ercc6
|
UTSW |
14 |
32566292 |
missense |
probably damaging |
1.00 |
R7995:Ercc6
|
UTSW |
14 |
32562569 |
missense |
probably damaging |
0.99 |
R8181:Ercc6
|
UTSW |
14 |
32557948 |
missense |
probably damaging |
1.00 |
R8320:Ercc6
|
UTSW |
14 |
32521015 |
missense |
probably benign |
0.01 |
R8388:Ercc6
|
UTSW |
14 |
32570340 |
utr 3 prime |
probably benign |
|
R8479:Ercc6
|
UTSW |
14 |
32526406 |
missense |
probably benign |
0.00 |
Z1176:Ercc6
|
UTSW |
14 |
32526487 |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAGTGCAGAGGAATTACTGTG -3'
(R):5'- ACAGAGAACAAGCCTTGGC -3'
Sequencing Primer
(F):5'- CTGTGCATTGTATTATAACGCGTAG -3'
(R):5'- AAGCCTTGGCCTGCCTTG -3'
|
Posted On | 2015-07-06 |