Incidental Mutation 'R5499:Ercc6'
| ID |
430537 |
| 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 |
043060-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R5499 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
G to A
at 32238916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066807
AA Change: M1I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: M1I
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,137 (GRCm39) |
E74K |
unknown |
Het |
| Adam10 |
A |
T |
9: 70,647,399 (GRCm39) |
H176L |
probably benign |
Het |
| Anapc5 |
C |
T |
5: 122,926,476 (GRCm39) |
E621K |
probably damaging |
Het |
| Asf1a |
T |
A |
10: 53,482,266 (GRCm39) |
L26Q |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,264 (GRCm39) |
L666P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,373,515 (GRCm39) |
R1265H |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,441,888 (GRCm39) |
|
probably null |
Het |
| Ctse |
T |
A |
1: 131,600,251 (GRCm39) |
Y333* |
probably null |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,070,209 (GRCm39) |
V1532D |
possibly damaging |
Het |
| Dnai7 |
A |
T |
6: 145,123,157 (GRCm39) |
W570R |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,386,017 (GRCm39) |
E208G |
probably damaging |
Het |
| Fstl4 |
G |
T |
11: 52,959,374 (GRCm39) |
M138I |
probably benign |
Het |
| Galnt17 |
T |
A |
5: 130,929,466 (GRCm39) |
Q447L |
probably benign |
Het |
| H2-Q7 |
T |
A |
17: 35,658,916 (GRCm39) |
C122* |
probably null |
Het |
| Herpud1 |
C |
T |
8: 95,116,041 (GRCm39) |
L69F |
probably damaging |
Het |
| Hnrnpa3 |
A |
G |
2: 75,495,584 (GRCm39) |
Y365C |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,128 (GRCm39) |
V553E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,986,212 (GRCm39) |
Y38H |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,755,100 (GRCm39) |
I132V |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,365,001 (GRCm39) |
S1252P |
possibly damaging |
Het |
| Lct |
T |
A |
1: 128,214,414 (GRCm39) |
D1786V |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,368,873 (GRCm39) |
M572L |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,408,813 (GRCm39) |
V1710I |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,353,000 (GRCm39) |
S250R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,479,615 (GRCm39) |
D1226G |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,069,575 (GRCm39) |
I755T |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,081,677 (GRCm39) |
L1003P |
probably damaging |
Het |
| Or11h23 |
G |
A |
14: 50,948,324 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,109,777 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or52e8b |
A |
T |
7: 104,674,184 (GRCm39) |
M1K |
probably null |
Het |
| Palmd |
T |
A |
3: 116,717,481 (GRCm39) |
M339L |
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,898,491 (GRCm39) |
N307K |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,335,411 (GRCm39) |
I243V |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,646 (GRCm39) |
E12G |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,042 (GRCm39) |
N463K |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,801,748 (GRCm39) |
N39S |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,700 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn8 |
C |
A |
11: 82,895,042 (GRCm39) |
S588I |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,913,202 (GRCm39) |
V77I |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,018,024 (GRCm39) |
K98E |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,322 (GRCm39) |
T931I |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,246,598 (GRCm39) |
L895H |
probably damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,318 (GRCm39) |
E108G |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,137 (GRCm39) |
V942A |
probably benign |
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 |
|
|
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'- GGATTGGGCCACTGTCTTTC -3'
(R):5'- AGCTTCAGCAGATGTGGATG -3'
Sequencing Primer
(F):5'- GGGCCACTGTCTTTCTCAGGAC -3'
(R):5'- TGGATGGCCCATACTCACAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation