Incidental Mutation 'R4811:Ercc6'
| ID |
369461 |
| 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 |
042430-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R4811 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32296886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1292
(R1292L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: R1292L
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: R1292L
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
G |
A |
15: 37,425,952 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
C |
T |
8: 25,201,740 (GRCm39) |
G208R |
probably benign |
Het |
| Arsg |
G |
T |
11: 109,424,898 (GRCm39) |
V290L |
probably benign |
Het |
| Cad |
A |
G |
5: 31,232,034 (GRCm39) |
T104A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,928,020 (GRCm39) |
N1185S |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,877 (GRCm39) |
T113A |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,133,618 (GRCm39) |
A967T |
probably damaging |
Het |
| Cyp4f16 |
A |
G |
17: 32,764,080 (GRCm39) |
T291A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,432,554 (GRCm39) |
H1300L |
probably benign |
Het |
| Ddx23 |
T |
A |
15: 98,545,352 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
G |
7: 105,363,488 (GRCm39) |
S4017A |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,293,703 (GRCm39) |
F729L |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,178,118 (GRCm39) |
V403M |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,499,628 (GRCm39) |
N576D |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,111,167 (GRCm39) |
|
probably null |
Het |
| Fbxw17 |
T |
C |
13: 50,579,669 (GRCm39) |
V162A |
probably benign |
Het |
| Gas2l1 |
A |
C |
11: 5,014,436 (GRCm39) |
I8S |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,711,781 (GRCm39) |
L195P |
probably damaging |
Het |
| Gps2 |
A |
T |
11: 69,806,754 (GRCm39) |
H233L |
probably damaging |
Het |
| Guf1 |
T |
G |
5: 69,721,852 (GRCm39) |
|
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,438,668 (GRCm39) |
L241S |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,519,988 (GRCm39) |
|
probably null |
Het |
| Ints14 |
A |
G |
9: 64,871,800 (GRCm39) |
Y46C |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,339 (GRCm39) |
Q293H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,687,043 (GRCm39) |
L593P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,174 (GRCm39) |
T297A |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,437,848 (GRCm39) |
V86A |
probably damaging |
Het |
| Lins1 |
T |
A |
7: 66,357,898 (GRCm39) |
I11K |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,683,448 (GRCm39) |
F2757L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,951,685 (GRCm39) |
I3762T |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,525,851 (GRCm39) |
S90P |
possibly damaging |
Het |
| Mfsd2a |
T |
A |
4: 122,853,175 (GRCm39) |
Q38L |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,922 (GRCm39) |
F546S |
probably damaging |
Het |
| Myo5a |
G |
A |
9: 75,048,825 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
A |
13: 100,422,299 (GRCm39) |
G1245W |
probably damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,584,645 (GRCm39) |
T107I |
probably benign |
Het |
| Nek8 |
C |
T |
11: 78,058,544 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
C |
7: 30,159,854 (GRCm39) |
V55A |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,240 (GRCm39) |
H75Q |
probably damaging |
Het |
| Oas1e |
C |
T |
5: 120,933,448 (GRCm39) |
S39N |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,166 (GRCm39) |
T52A |
probably benign |
Het |
| Or2y1e |
T |
G |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,876 (GRCm39) |
F135L |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,049 (GRCm39) |
I135F |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,868 (GRCm39) |
H632Q |
probably damaging |
Het |
| Paqr3 |
A |
C |
5: 97,243,842 (GRCm39) |
S291A |
probably benign |
Het |
| Pcdh17 |
A |
C |
14: 84,685,375 (GRCm39) |
D614A |
probably damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,606 (GRCm39) |
E422G |
possibly damaging |
Het |
| Pgr |
G |
T |
9: 8,900,844 (GRCm39) |
E126* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,936 (GRCm39) |
V532A |
possibly damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,071,738 (GRCm39) |
I186T |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,388,564 (GRCm39) |
|
probably null |
Het |
| Poc1a |
A |
G |
9: 106,226,908 (GRCm39) |
T334A |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,111 (GRCm39) |
K211* |
probably null |
Het |
| Rdh13 |
T |
C |
7: 4,445,652 (GRCm39) |
E94G |
probably benign |
Het |
| Rnf186 |
A |
G |
4: 138,694,498 (GRCm39) |
S13G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,670,584 (GRCm39) |
R3471G |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,971,742 (GRCm39) |
T831A |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,316,403 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,082,404 (GRCm39) |
N408S |
probably benign |
Het |
| Snn |
T |
C |
16: 10,890,397 (GRCm39) |
V72A |
probably benign |
Het |
| Sys1 |
T |
A |
2: 164,306,344 (GRCm39) |
H99Q |
possibly damaging |
Het |
| Syt7 |
A |
G |
19: 10,412,931 (GRCm39) |
K122R |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,396,311 (GRCm39) |
L550Q |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,681 (GRCm39) |
L184P |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,993,438 (GRCm39) |
I599T |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,281,279 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,538,507 (GRCm39) |
V379G |
possibly damaging |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,621 (GRCm39) |
E78K |
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,262,897 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,858,054 (GRCm39) |
L165P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,633,956 (GRCm39) |
Y750C |
probably damaging |
Het |
| Ttbk2 |
A |
C |
2: 120,570,551 (GRCm39) |
S1201A |
possibly damaging |
Het |
| Ust |
T |
A |
10: 8,121,705 (GRCm39) |
H301L |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,647,249 (GRCm39) |
F543L |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,971,645 (GRCm39) |
|
probably null |
Het |
| Zfp85 |
T |
C |
13: 67,897,745 (GRCm39) |
Y109C |
probably damaging |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,237,420 (GRCm39) |
C134S |
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 |
|
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'- TTTCAGTGCAGAGGAATTACTGTG -3'
(R):5'- ACAGAGAACAAGCCTTGGCC -3'
Sequencing Primer
(F):5'- CTGTGCATTGTATTATAACGCGTAG -3'
(R):5'- CTGCCTTGACTGTGCAGCTAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation