Incidental Mutation 'R6296:Ercc6'
| ID |
508798 |
| 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 |
044407-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R6296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 32248360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 304
(E304*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066807
AA Change: E304*
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: E304*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,086,580 (GRCm39) |
K277R |
probably damaging |
Het |
| Aatf |
T |
C |
11: 84,363,926 (GRCm39) |
Y267C |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,124,080 (GRCm39) |
Y1253C |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,561 (GRCm39) |
T26A |
probably benign |
Het |
| Ahnak |
T |
G |
19: 8,980,669 (GRCm39) |
V651G |
probably damaging |
Het |
| Akr7a5 |
G |
A |
4: 139,045,532 (GRCm39) |
V358I |
probably benign |
Het |
| Ankar |
T |
G |
1: 72,682,417 (GRCm39) |
T1383P |
probably damaging |
Het |
| Bpifb6 |
G |
C |
2: 153,748,812 (GRCm39) |
K269N |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,575,684 (GRCm39) |
E1927G |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,629,675 (GRCm39) |
T1249S |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,602,053 (GRCm39) |
R1596C |
probably damaging |
Het |
| Cbll1 |
A |
G |
12: 31,537,507 (GRCm39) |
V415A |
probably benign |
Het |
| Cd300lf |
C |
T |
11: 115,015,195 (GRCm39) |
V132I |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,902,708 (GRCm39) |
Y148C |
probably damaging |
Het |
| Coa5 |
A |
G |
1: 37,467,428 (GRCm39) |
S60P |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,883 (GRCm39) |
N342D |
probably damaging |
Het |
| Cyp2c29 |
T |
G |
19: 39,318,705 (GRCm39) |
I434S |
possibly damaging |
Het |
| Ddx11 |
G |
A |
17: 66,457,724 (GRCm39) |
|
probably null |
Het |
| Dgke |
C |
T |
11: 88,931,575 (GRCm39) |
V560I |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,697,456 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
G |
T |
17: 44,413,371 (GRCm39) |
N54K |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,093,122 (GRCm39) |
A145T |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,802,112 (GRCm39) |
K764M |
probably damaging |
Het |
| Fam117a |
T |
A |
11: 95,254,971 (GRCm39) |
C115S |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,163 (GRCm39) |
S21P |
probably benign |
Het |
| Gm6358 |
T |
C |
16: 88,937,970 (GRCm39) |
S70P |
unknown |
Het |
| Grip1 |
C |
T |
10: 119,911,369 (GRCm39) |
Q696* |
probably null |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,351 (GRCm39) |
H62L |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,385,187 (GRCm39) |
I258V |
unknown |
Het |
| Igkv13-71-1 |
G |
T |
6: 69,212,783 (GRCm39) |
|
noncoding transcript |
Het |
| Inava |
C |
T |
1: 136,148,809 (GRCm39) |
|
probably null |
Het |
| Irx1 |
A |
C |
13: 72,107,787 (GRCm39) |
S298R |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,539 (GRCm39) |
Y443N |
possibly damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,084,740 (GRCm39) |
A555T |
probably benign |
Het |
| Krtap4-6 |
T |
A |
11: 99,556,245 (GRCm39) |
R161* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,757,737 (GRCm39) |
D244G |
probably benign |
Het |
| Lmo2 |
T |
G |
2: 103,800,946 (GRCm39) |
V39G |
possibly damaging |
Het |
| Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
| Macf1 |
A |
T |
4: 123,326,668 (GRCm39) |
I4943N |
probably damaging |
Het |
| Mkx |
A |
T |
18: 7,000,591 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
T |
8: 61,525,343 (GRCm39) |
Q594* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,330,379 (GRCm39) |
M2349V |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,182,639 (GRCm39) |
C1201S |
probably damaging |
Het |
| Or2y8 |
C |
A |
11: 52,035,423 (GRCm39) |
R311S |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,975 (GRCm39) |
T89I |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,769 (GRCm39) |
K271E |
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 12,952,560 (GRCm39) |
|
probably null |
Het |
| Pbx1 |
T |
C |
1: 168,011,184 (GRCm39) |
D372G |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,302,112 (GRCm39) |
S1668T |
probably damaging |
Het |
| Pitpnc1 |
T |
C |
11: 107,117,092 (GRCm39) |
H193R |
probably damaging |
Het |
| Plag1 |
G |
T |
4: 3,904,499 (GRCm39) |
H231N |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,688,767 (GRCm39) |
I201T |
probably damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,222,894 (GRCm39) |
N54K |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,581,655 (GRCm39) |
|
probably null |
Het |
| Rassf9 |
T |
A |
10: 102,381,614 (GRCm39) |
I332N |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,159,813 (GRCm39) |
N173S |
probably benign |
Het |
| Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,779,119 (GRCm39) |
S389P |
probably benign |
Het |
| Rxfp1 |
A |
C |
3: 79,575,155 (GRCm39) |
L181R |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,899 (GRCm39) |
T208I |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,827 (GRCm39) |
M668I |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,211 (GRCm39) |
S686R |
probably damaging |
Het |
| Spata31d1d |
G |
A |
13: 59,876,278 (GRCm39) |
T419I |
possibly damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,497 (GRCm39) |
D441G |
probably benign |
Het |
| Spink5 |
T |
C |
18: 44,147,824 (GRCm39) |
S857P |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,986,138 (GRCm39) |
S339R |
probably damaging |
Het |
| Stk35 |
T |
A |
2: 129,652,808 (GRCm39) |
Y436* |
probably null |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,904,217 (GRCm39) |
E402V |
possibly damaging |
Het |
| Tmem183a |
T |
C |
1: 134,289,349 (GRCm39) |
D27G |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,103 (GRCm39) |
T56A |
probably damaging |
Het |
| Tnrc18 |
A |
C |
5: 142,719,331 (GRCm39) |
L1985R |
unknown |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Ufl1 |
G |
T |
4: 25,270,572 (GRCm39) |
Q215K |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,450,839 (GRCm39) |
*232R |
probably null |
Het |
| Wnk4 |
A |
T |
11: 101,164,824 (GRCm39) |
N718Y |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,793 (GRCm39) |
T466A |
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,808,898 (GRCm39) |
K988* |
probably null |
Het |
| Zfp503 |
G |
C |
14: 22,035,868 (GRCm39) |
Y349* |
probably null |
Het |
| Zfp990 |
T |
A |
4: 145,264,673 (GRCm39) |
F557Y |
possibly 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 |
|
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 |
|
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'- TGGCCAGATGACACCGTTTG -3'
(R):5'- CATCAGAAGACAGGCTGGCTAC -3'
Sequencing Primer
(F):5'- CGTTTGGTACCCCAGCC -3'
(R):5'- ACAGGCTGGCTACCCCTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation