Incidental Mutation 'R6267:Ercc6'
ID |
507107 |
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 |
044405-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R6267 (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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
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: 84 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 |
Abi3bp |
A |
G |
16: 56,414,860 (GRCm39) |
T341A |
probably damaging |
Het |
Acer2 |
T |
C |
4: 86,792,823 (GRCm39) |
F33S |
probably damaging |
Het |
Actr1b |
A |
G |
1: 36,740,244 (GRCm39) |
V299A |
possibly damaging |
Het |
Ampd3 |
T |
A |
7: 110,390,387 (GRCm39) |
|
probably null |
Het |
Atm |
A |
C |
9: 53,355,300 (GRCm39) |
I2898R |
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 |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
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 |
Chd2 |
T |
C |
7: 73,113,419 (GRCm39) |
E1187G |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,019,805 (GRCm39) |
L544P |
probably damaging |
Het |
Cryga |
A |
C |
1: 65,142,169 (GRCm39) |
S75A |
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,195,576 (GRCm39) |
Y261* |
probably null |
Het |
Ddx11 |
G |
A |
17: 66,457,724 (GRCm39) |
|
probably null |
Het |
Dgke |
C |
T |
11: 88,931,575 (GRCm39) |
V560I |
probably benign |
Het |
Dst |
A |
C |
1: 34,267,753 (GRCm39) |
D5065A |
probably damaging |
Het |
Dusp16 |
C |
A |
6: 134,697,456 (GRCm39) |
|
probably null |
Het |
Eif4enif1 |
T |
A |
11: 3,177,793 (GRCm39) |
V395E |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,815,204 (GRCm39) |
T121A |
probably damaging |
Het |
Enpp4 |
G |
T |
17: 44,413,371 (GRCm39) |
N54K |
probably benign |
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 |
Fcrl5 |
G |
A |
3: 87,355,631 (GRCm39) |
G448E |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,163 (GRCm39) |
S21P |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,994,892 (GRCm39) |
D39G |
probably benign |
Het |
Gm14295 |
C |
T |
2: 176,500,782 (GRCm39) |
Q91* |
probably null |
Het |
Grb10 |
T |
A |
11: 11,920,639 (GRCm39) |
|
probably benign |
Het |
Grip1 |
C |
T |
10: 119,911,369 (GRCm39) |
Q696* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,802,914 (GRCm39) |
C2112* |
probably null |
Het |
Herc2 |
T |
G |
7: 55,854,466 (GRCm39) |
L3797R |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,385,187 (GRCm39) |
I258V |
unknown |
Het |
Jarid2 |
T |
A |
13: 45,056,539 (GRCm39) |
Y443N |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,976,083 (GRCm39) |
Y466C |
probably damaging |
Het |
Krtap4-6 |
T |
A |
11: 99,556,245 (GRCm39) |
R161* |
probably null |
Het |
Lingo4 |
G |
A |
3: 94,310,697 (GRCm39) |
G545E |
probably benign |
Het |
Lmo2 |
T |
G |
2: 103,800,946 (GRCm39) |
V39G |
possibly damaging |
Het |
Loricrin |
C |
A |
3: 91,989,119 (GRCm39) |
G56* |
probably null |
Het |
Lrfn1 |
A |
G |
7: 28,159,169 (GRCm39) |
R363G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,547,537 (GRCm39) |
D446G |
probably benign |
Het |
Ltbp1 |
G |
T |
17: 75,312,984 (GRCm39) |
G35V |
possibly damaging |
Het |
Magel2 |
G |
A |
7: 62,028,427 (GRCm39) |
V444M |
probably damaging |
Het |
Mkx |
A |
T |
18: 7,000,591 (GRCm39) |
|
probably null |
Het |
Ms4a7 |
A |
T |
19: 11,310,659 (GRCm39) |
I20N |
possibly damaging |
Het |
Myo5b |
A |
G |
18: 74,750,062 (GRCm39) |
Y173C |
probably damaging |
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 |
Nmnat2 |
A |
T |
1: 152,952,717 (GRCm39) |
H102L |
probably 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 |
Or52x1 |
G |
A |
7: 104,852,599 (GRCm39) |
T317I |
probably damaging |
Het |
Osbpl1a |
A |
G |
18: 12,952,560 (GRCm39) |
|
probably null |
Het |
Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
Pitpnc1 |
T |
C |
11: 107,117,092 (GRCm39) |
H193R |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,160,522 (GRCm39) |
L781P |
probably damaging |
Het |
Prdm14 |
A |
T |
1: 13,189,160 (GRCm39) |
C395S |
probably damaging |
Het |
Prmt8 |
A |
G |
6: 127,688,767 (GRCm39) |
I201T |
probably damaging |
Het |
Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,581,655 (GRCm39) |
|
probably null |
Het |
Rgs9 |
T |
C |
11: 109,159,813 (GRCm39) |
N173S |
probably benign |
Het |
Rorb |
C |
A |
19: 18,955,221 (GRCm39) |
V47L |
possibly damaging |
Het |
Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
Sdr16c5 |
C |
T |
4: 4,016,162 (GRCm39) |
G88E |
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 |
Slc52a3 |
G |
T |
2: 151,849,529 (GRCm39) |
|
probably null |
Het |
Smco1 |
A |
T |
16: 32,092,832 (GRCm39) |
M168L |
probably benign |
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 |
Stk35 |
T |
A |
2: 129,652,808 (GRCm39) |
Y436* |
probably null |
Het |
Tmem225 |
T |
A |
9: 40,059,731 (GRCm39) |
I37N |
probably damaging |
Het |
Unkl |
T |
C |
17: 25,450,839 (GRCm39) |
*232R |
probably null |
Het |
Usp16 |
A |
G |
16: 87,280,079 (GRCm39) |
N813S |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,084,221 (GRCm39) |
*308C |
probably null |
Het |
Vmn2r45 |
A |
G |
7: 8,475,207 (GRCm39) |
V607A |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,578,059 (GRCm39) |
|
probably null |
Het |
Wnk4 |
A |
T |
11: 101,164,824 (GRCm39) |
N718Y |
probably damaging |
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 |
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'- TTATCCGCACTGGCCAGATG -3'
(R):5'- TCAGAAGACAGGCTGGCTAC -3'
Sequencing Primer
(F):5'- TGGCCAGATGACACCGTTTG -3'
(R):5'- ACAGGCTGGCTACCCCTTC -3'
|
Posted On |
2018-03-15 |