Incidental Mutation 'R5861:Ercc2'
| ID |
453907 |
| 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 |
044073-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5861 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19115942-19129619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 19128066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 696
(A696P)
|
| 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: A717P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: A717P
| 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 |
possibly damaging
Transcript: ENSMUST00000108460
AA Change: A696P
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: A696P
| 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: A465P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
AA Change: A465P
| 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 |
noncoding transcript
Transcript: ENSMUST00000135693
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129249
AA Change: A640P
|
| SMART Domains |
Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: A640P
| 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: ENSMUST00000125246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
| Meta Mutation Damage Score |
0.8852 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
98% (81/83) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,218,644 (GRCm39) |
T246N |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,446,626 (GRCm39) |
D143G |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 78,037,393 (GRCm39) |
A612T |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,454,014 (GRCm39) |
F407I |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,241,310 (GRCm39) |
A620D |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,093,682 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,359 (GRCm39) |
V92I |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,264,617 (GRCm39) |
F332S |
probably damaging |
Het |
| Crhbp |
G |
A |
13: 95,580,333 (GRCm39) |
A82V |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,434,040 (GRCm39) |
V90A |
possibly damaging |
Het |
| Dennd4c |
A |
T |
4: 86,709,589 (GRCm39) |
M397L |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,088 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ecm1 |
G |
C |
3: 95,643,909 (GRCm39) |
L230V |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm13035 |
A |
G |
4: 146,009,859 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,865,116 (GRCm39) |
V247A |
probably damaging |
Het |
| Gm28455 |
T |
A |
7: 39,148,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr150 |
A |
T |
13: 76,204,192 (GRCm39) |
V251D |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,765,875 (GRCm39) |
S69L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,265 (GRCm39) |
I147V |
possibly damaging |
Het |
| Il5 |
G |
A |
11: 53,614,743 (GRCm39) |
E102K |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,594,621 (GRCm39) |
F94L |
probably damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,344,806 (GRCm39) |
E427G |
possibly damaging |
Het |
| Man1b1 |
A |
G |
2: 25,238,066 (GRCm39) |
T384A |
probably benign |
Het |
| Mapk15 |
C |
A |
15: 75,868,208 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
T |
C |
5: 34,791,588 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,315,129 (GRCm39) |
A285E |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,478,456 (GRCm39) |
|
probably benign |
Het |
| Myf5 |
A |
T |
10: 107,320,069 (GRCm39) |
C194S |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,226,347 (GRCm39) |
V431A |
possibly damaging |
Het |
| Nadsyn1 |
A |
C |
7: 143,364,964 (GRCm39) |
M247R |
possibly damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,021,177 (GRCm39) |
D166G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,156,413 (GRCm39) |
L42F |
probably damaging |
Het |
| Nt5dc3 |
A |
T |
10: 86,651,738 (GRCm39) |
D180V |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,658,494 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,052 (GRCm39) |
L328Q |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,700,953 (GRCm39) |
Y171C |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,922 (GRCm39) |
N138K |
probably benign |
Het |
| Or7a37 |
A |
T |
10: 78,805,765 (GRCm39) |
Y94F |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,992 (GRCm39) |
N217S |
possibly damaging |
Het |
| Pcmtd2 |
C |
A |
2: 181,484,268 (GRCm39) |
T26K |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,917,571 (GRCm39) |
N59H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,202,674 (GRCm39) |
S126P |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,937 (GRCm39) |
L727P |
probably damaging |
Het |
| Pramel20 |
G |
T |
4: 143,297,810 (GRCm39) |
V77L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Rara |
T |
A |
11: 98,858,987 (GRCm39) |
C148* |
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,386,481 (GRCm39) |
I83N |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,203 (GRCm39) |
R4501G |
probably damaging |
Het |
| Rps5 |
T |
A |
7: 12,659,501 (GRCm39) |
F97L |
probably damaging |
Het |
| Sigirr |
G |
A |
7: 140,671,292 (GRCm39) |
R397W |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,014 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,570 (GRCm39) |
T174A |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,632,116 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,337 (GRCm39) |
E348G |
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,120,644 (GRCm39) |
T209A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,492,424 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,576,104 (GRCm39) |
S461T |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,454 (GRCm39) |
N460I |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,095 (GRCm39) |
Y180C |
unknown |
Het |
| Zfp941 |
A |
G |
7: 140,392,052 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,697,966 (GRCm39) |
Q248* |
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
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'- CATGGTCTTTGCTGACAAGGTG -3'
(R):5'- TAAAGGGCAGGAGTCAGCTCAC -3'
Sequencing Primer
(F):5'- AGTCCAGGTAGCCCGACTTC -3'
(R):5'- AGGAGTCAGCTCACACGGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation