Incidental Mutation 'R1600:Ercc2'
| ID |
176090 |
| 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 |
039637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1600 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19115942-19129619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19119866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 176
(Y176H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062831]
[ENSMUST00000108460]
[ENSMUST00000108461]
|
| AlphaFold |
O08811 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062831
AA Change: Y197H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: Y197H
| 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: ENSMUST00000108460
AA Change: Y176H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: Y176H
| 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 benign
Transcript: ENSMUST00000108461
|
| SMART Domains |
Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
| 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: ENSMUST00000127363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129249
|
| SMART Domains |
Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
| 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: ENSMUST00000129291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180691
|
| Meta Mutation Damage Score |
0.0724 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
85% (41/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
| Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,173,954 (GRCm39) |
R64G |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
| Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,303,708 (GRCm39) |
|
probably null |
Het |
| Grk1 |
A |
G |
8: 13,455,406 (GRCm39) |
T97A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
| Mtnr1b |
T |
C |
9: 15,774,615 (GRCm39) |
Y148C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,537 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
| Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
| Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATGAGGTACAGGGAAGAGCCTAGAA -3'
(R):5'- ACGGAGACAGACGATCCAGACAA -3'
Sequencing Primer
(F):5'- GAGCCTAGAACTGGTGAGC -3'
(R):5'- ATAAAGACGTAACAGCACAGAGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation