Incidental Mutation 'R7396:Ercc6'
| ID |
573853 |
| 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 |
045478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.422)
|
| Stock # |
R7396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32235478-32302947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32291762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1042
(T1042I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066807]
|
| AlphaFold |
F8VPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066807
AA Change: T1042I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: T1042I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (79/79) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830403N18Rik |
G |
T |
X: 55,184,140 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,831,609 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,351,722 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,373,052 (GRCm39) |
L185H |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,368,068 (GRCm39) |
T293I |
probably benign |
Het |
| Adig |
T |
C |
2: 158,347,836 (GRCm39) |
L50P |
unknown |
Het |
| Ankrd28 |
A |
G |
14: 31,424,159 (GRCm39) |
S994P |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,590,813 (GRCm39) |
D366E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,950,427 (GRCm39) |
Y927* |
probably null |
Het |
| Asxl2 |
T |
A |
12: 3,492,529 (GRCm39) |
I38N |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,780,057 (GRCm39) |
I1092V |
|
Het |
| B4galnt1 |
A |
G |
10: 127,007,485 (GRCm39) |
E462G |
possibly damaging |
Het |
| BC048671 |
T |
A |
6: 90,280,273 (GRCm39) |
V63E |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,988,889 (GRCm39) |
V406A |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,645,668 (GRCm39) |
I234L |
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,928,432 (GRCm39) |
S436A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,870,374 (GRCm39) |
|
probably null |
Het |
| Ces1b |
G |
T |
8: 93,789,757 (GRCm39) |
N390K |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,927 (GRCm39) |
Q671R |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,524 (GRCm39) |
S523R |
|
Het |
| Dbr1 |
C |
A |
9: 99,465,443 (GRCm39) |
N340K |
probably damaging |
Het |
| Dram1 |
T |
A |
10: 88,176,507 (GRCm39) |
T73S |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,817,501 (GRCm39) |
R39S |
possibly damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,324,887 (GRCm39) |
I515S |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,094,111 (GRCm39) |
N434I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,803,449 (GRCm39) |
P1057L |
possibly damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,278,091 (GRCm39) |
N29I |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,954 (GRCm39) |
D344G |
probably benign |
Het |
| Fgf15 |
G |
T |
7: 144,453,542 (GRCm39) |
V172L |
probably benign |
Het |
| Fmod |
T |
C |
1: 133,967,978 (GRCm39) |
V6A |
probably benign |
Het |
| Furin |
C |
A |
7: 80,047,862 (GRCm39) |
R86L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,160,207 (GRCm39) |
V297A |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,476 (GRCm39) |
D967G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,439,382 (GRCm39) |
T5601A |
possibly damaging |
Het |
| Hsbp1l1 |
G |
T |
18: 80,276,634 (GRCm39) |
P70Q |
not run |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,033 (GRCm39) |
V155A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,617 (GRCm39) |
M97K |
possibly damaging |
Het |
| Kcnj6 |
C |
A |
16: 94,563,306 (GRCm39) |
L397F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 46,014,801 (GRCm39) |
|
probably null |
Het |
| Lgi2 |
A |
T |
5: 52,695,753 (GRCm39) |
I402N |
probably damaging |
Het |
| Lrat |
T |
A |
3: 82,810,590 (GRCm39) |
R144* |
probably null |
Het |
| Mfhas1 |
G |
T |
8: 36,057,353 (GRCm39) |
L609F |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,495,994 (GRCm39) |
I398K |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,362,152 (GRCm39) |
D1821V |
unknown |
Het |
| Myh2 |
T |
C |
11: 67,085,554 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,234,044 (GRCm39) |
E386G |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,443,802 (GRCm39) |
V76M |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,891 (GRCm39) |
T128A |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,765,615 (GRCm39) |
D59E |
probably benign |
Het |
| Or2j6 |
C |
T |
7: 139,980,476 (GRCm39) |
R161H |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,477 (GRCm39) |
V205A |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,558 (GRCm39) |
S315N |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,522 (GRCm39) |
V1513D |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,589,902 (GRCm39) |
T734K |
unknown |
Het |
| Phc2 |
A |
G |
4: 128,641,954 (GRCm39) |
R759G |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,375 (GRCm39) |
N1176K |
probably benign |
Het |
| Plec |
T |
A |
15: 76,059,089 (GRCm39) |
Y3616F |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,282,707 (GRCm39) |
T426N |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,462 (GRCm39) |
T1245A |
not run |
Het |
| Rilp |
T |
C |
11: 75,401,712 (GRCm39) |
V164A |
probably damaging |
Het |
| Rnf39 |
A |
T |
17: 37,257,971 (GRCm39) |
T168S |
probably damaging |
Het |
| Rptor |
C |
G |
11: 119,763,181 (GRCm39) |
Q922E |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,396 (GRCm39) |
L236Q |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,845,324 (GRCm39) |
T379A |
probably benign |
Het |
| Spata22 |
C |
A |
11: 73,236,702 (GRCm39) |
T336N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,547 (GRCm39) |
S232P |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,110,722 (GRCm39) |
C98S |
possibly damaging |
Het |
| Stard6 |
T |
C |
18: 70,633,506 (GRCm39) |
V171A |
possibly damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,072 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,728,519 (GRCm39) |
D621G |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,277,973 (GRCm39) |
T353M |
possibly damaging |
Het |
| Trim68 |
A |
T |
7: 102,327,569 (GRCm39) |
Y461* |
probably null |
Het |
| Usp1 |
A |
G |
4: 98,814,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,641 (GRCm39) |
I502F |
probably benign |
Het |
| Wbp4 |
C |
A |
14: 79,714,261 (GRCm39) |
G84C |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp787 |
A |
G |
7: 6,135,106 (GRCm39) |
*382Q |
probably null |
Het |
| Zfp831 |
G |
T |
2: 174,487,002 (GRCm39) |
C559F |
possibly damaging |
Het |
| Zgpat |
G |
C |
2: 181,007,882 (GRCm39) |
A140P |
probably benign |
Het |
| Zscan4e |
T |
A |
7: 11,041,002 (GRCm39) |
Y290F |
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 |
|
|
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 |
|
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'- GTTCACTCTGACCAGTCCTG -3'
(R):5'- CTGAGAGATGCTCCAGTGTG -3'
Sequencing Primer
(F):5'- TGACCAGTCCTGACGCCTC -3'
(R):5'- AGTGTGGACCCTGCATCTGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation