Incidental Mutation 'R4458:Ercc2'
| ID |
330003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc2
|
| Ensembl Gene |
ENSMUSG00000030400 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
| Synonyms |
RCO015, Ercc-2, Mhdarco15, XPD |
| MMRRC Submission |
041718-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4458 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19115942-19129619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19127771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 406
(R406L)
|
| 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: R658L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: R658L
| 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: R637L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: R637L
| 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: R406L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
AA Change: R406L
| 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: R581L
|
| SMART Domains |
Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: R581L
| 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: ENSMUST00000180691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,550 (GRCm39) |
I56N |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
| Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
| Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
| Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,258,630 (GRCm39) |
E822K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
| Lias |
T |
C |
5: 65,551,383 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
| Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,885,052 (GRCm39) |
I419V |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
| Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
| Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
| Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
| Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
| Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,032,071 (GRCm39) |
I19T |
probably damaging |
Het |
| Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGCACTGTAATCCTGCTC -3'
(R):5'- ACATTAGAGCCCAGGTTGGAG -3'
Sequencing Primer
(F):5'- GGAGTTCCCTATGTCTATACCCAGAG -3'
(R):5'- CAGGTTGGAGCCCAGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation