Incidental Mutation 'IGL01810:Ercc2'
ID |
155803 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ercc2
|
Ensembl Gene |
ENSMUSG00000030400 |
Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Synonyms |
RCO015, Ercc-2, Mhdarco15, XPD |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01810
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
19115942-19129619 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 19127374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 340
(R340L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047170]
[ENSMUST00000062831]
[ENSMUST00000108457]
[ENSMUST00000108458]
[ENSMUST00000108459]
[ENSMUST00000108460]
[ENSMUST00000108461]
|
AlphaFold |
O08811 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047170
|
SMART Domains |
Protein: ENSMUSP00000038091 Gene: ENSMUSG00000040714
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.1e-56 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
1.7e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062831
AA Change: R592L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054380 Gene: ENSMUSG00000030400 AA Change: R592L
Domain | Start | End | E-Value | Type |
DEXDc
|
8 |
280 |
1.62e-144 |
SMART |
Blast:DEXDc2
|
340 |
369 |
3e-10 |
BLAST |
Blast:DEXDc
|
412 |
467 |
9e-27 |
BLAST |
HELICc
|
542 |
686 |
1.32e-76 |
SMART |
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108457
|
SMART Domains |
Protein: ENSMUSP00000104097 Gene: ENSMUSG00000040714
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.7e-57 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
3.2e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108458
|
SMART Domains |
Protein: ENSMUSP00000104098 Gene: ENSMUSG00000040714
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.1e-56 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
1.7e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108459
|
SMART Domains |
Protein: ENSMUSP00000104099 Gene: ENSMUSG00000040714
Domain | Start | End | E-Value | Type |
coiled coil region
|
88 |
150 |
N/A |
INTRINSIC |
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
Pfam:TPR_10
|
206 |
247 |
5.6e-7 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108460
AA Change: R571L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104100 Gene: ENSMUSG00000030400 AA Change: R571L
Domain | Start | End | E-Value | Type |
DEXDc
|
8 |
259 |
1.7e-120 |
SMART |
Blast:DEXDc2
|
319 |
348 |
3e-10 |
BLAST |
Blast:DEXDc
|
391 |
446 |
8e-27 |
BLAST |
HELICc
|
521 |
665 |
1.32e-76 |
SMART |
low complexity region
|
712 |
730 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108461
AA Change: R340L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104101 Gene: ENSMUSG00000030400 AA Change: R340L
Domain | Start | End | E-Value | Type |
Pfam:DUF1227
|
16 |
161 |
4.5e-60 |
PFAM |
Blast:HELICc2
|
193 |
262 |
1e-40 |
BLAST |
HELICc
|
290 |
434 |
1.32e-76 |
SMART |
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129249
AA Change: R515L
|
SMART Domains |
Protein: ENSMUSP00000117840 Gene: ENSMUSG00000030400 AA Change: R515L
Domain | Start | End | E-Value | Type |
DEXDc
|
10 |
204 |
1.14e-71 |
SMART |
Blast:DEXDc2
|
264 |
293 |
2e-10 |
BLAST |
Blast:DEXDc
|
336 |
391 |
5e-27 |
BLAST |
HELICc
|
466 |
610 |
1.32e-76 |
SMART |
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135693
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] PHENOTYPE: Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
G |
T |
11: 101,308,185 (GRCm39) |
Y10* |
probably null |
Het |
Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,793,425 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,795 (GRCm39) |
Q309R |
probably benign |
Het |
Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,969,521 (GRCm39) |
V549A |
possibly damaging |
Het |
Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
Stxbp3 |
T |
C |
3: 108,707,468 (GRCm39) |
E420G |
probably benign |
Het |
Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
Het |
|
Other mutations in Ercc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01294:Ercc2
|
APN |
7 |
19,124,342 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01767:Ercc2
|
APN |
7 |
19,124,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02485:Ercc2
|
APN |
7 |
19,127,970 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02891:Ercc2
|
APN |
7 |
19,127,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03010:Ercc2
|
APN |
7 |
19,125,491 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0304:Ercc2
|
UTSW |
7 |
19,120,633 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0512:Ercc2
|
UTSW |
7 |
19,127,812 (GRCm39) |
missense |
probably damaging |
0.99 |
R1467:Ercc2
|
UTSW |
7 |
19,119,811 (GRCm39) |
missense |
probably benign |
0.05 |
R1467:Ercc2
|
UTSW |
7 |
19,119,811 (GRCm39) |
missense |
probably benign |
0.05 |
R1600:Ercc2
|
UTSW |
7 |
19,119,866 (GRCm39) |
missense |
probably benign |
0.00 |
R1636:Ercc2
|
UTSW |
7 |
19,121,049 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2156:Ercc2
|
UTSW |
7 |
19,120,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2446:Ercc2
|
UTSW |
7 |
19,120,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R4458:Ercc2
|
UTSW |
7 |
19,127,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Ercc2
|
UTSW |
7 |
19,120,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Ercc2
|
UTSW |
7 |
19,128,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6960:Ercc2
|
UTSW |
7 |
19,127,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R7301:Ercc2
|
UTSW |
7 |
19,128,060 (GRCm39) |
missense |
probably benign |
0.09 |
R7354:Ercc2
|
UTSW |
7 |
19,127,579 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8485:Ercc2
|
UTSW |
7 |
19,122,165 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9521:Ercc2
|
UTSW |
7 |
19,125,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R9574:Ercc2
|
UTSW |
7 |
19,124,060 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Ercc2
|
UTSW |
7 |
19,119,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-02-04 |