Incidental Mutation 'IGL03010:Ercc2'
| ID |
407714 |
| 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 # |
IGL03010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19115942-19129619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19125491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 486
(K486E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104100
(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 |
possibly damaging
Transcript: ENSMUST00000062831
AA Change: K507E
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: K507E
| 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 |
noncoding transcript
Transcript: ENSMUST00000102360
|
| 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 |
possibly damaging
Transcript: ENSMUST00000108460
AA Change: K486E
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: K486E
| 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 |
possibly damaging
Transcript: ENSMUST00000108461
AA Change: K255E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
AA Change: K255E
| 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: K430E
|
| SMART Domains |
Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: K430E
| 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: ENSMUST00000128167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
| Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
| Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
| Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
| Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
| Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
| Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
| Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
| Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
| Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
| Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
| Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
| Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
| Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
probably damaging |
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 |
|
IGL01810:Ercc2
|
APN |
7 |
19,127,374 (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 |
|
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 |
2016-08-02 |
Incidental Mutation