Incidental Mutation 'R1478:Xpc'
| ID |
165619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpc
|
| Ensembl Gene |
ENSMUSG00000030094 |
| Gene Name |
xeroderma pigmentosum, complementation group C |
| Synonyms |
|
| MMRRC Submission |
039531-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
R1478 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91466287-91492870 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91485510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 122
(D122N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032182]
[ENSMUST00000206476]
|
| AlphaFold |
P51612 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032182
AA Change: D122N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: D122N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
439 |
N/A |
INTRINSIC |
|
Pfam:Rad4
|
485 |
619 |
6.4e-26 |
PFAM |
|
BHD_1
|
623 |
675 |
4.09e-25 |
SMART |
|
BHD_2
|
677 |
737 |
4.96e-24 |
SMART |
|
BHD_3
|
744 |
818 |
4.83e-45 |
SMART |
|
low complexity region
|
826 |
835 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150279
AA Change: D120N
|
| Predicted Effect |
silent
Transcript: ENSMUST00000206476
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,270,065 (GRCm39) |
E319V |
probably damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
| Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,171,404 (GRCm39) |
V501A |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,671 (GRCm39) |
V114A |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
| Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
| Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
| Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
| Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
| Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
| Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
| Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
| Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
| Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
| Qrich1 |
T |
C |
9: 108,436,531 (GRCm39) |
V743A |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
| Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
probably damaging |
Het |
|
| Other mutations in Xpc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Xpc
|
APN |
6 |
91,469,246 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01108:Xpc
|
APN |
6 |
91,469,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Xpc
|
APN |
6 |
91,467,089 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01323:Xpc
|
APN |
6 |
91,469,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01350:Xpc
|
APN |
6 |
91,476,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01656:Xpc
|
APN |
6 |
91,482,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01922:Xpc
|
APN |
6 |
91,482,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Xpc
|
APN |
6 |
91,476,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02448:Xpc
|
APN |
6 |
91,492,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02571:Xpc
|
APN |
6 |
91,481,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Xpc
|
APN |
6 |
91,477,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Xpc
|
APN |
6 |
91,483,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Xpc
|
APN |
6 |
91,468,297 (GRCm39) |
splice site |
probably null |
|
|
IGL03248:Xpc
|
APN |
6 |
91,481,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03046:Xpc
|
UTSW |
6 |
91,487,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Xpc
|
UTSW |
6 |
91,468,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0173:Xpc
|
UTSW |
6 |
91,481,717 (GRCm39) |
unclassified |
probably benign |
|
|
R0285:Xpc
|
UTSW |
6 |
91,475,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0454:Xpc
|
UTSW |
6 |
91,468,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0535:Xpc
|
UTSW |
6 |
91,481,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0554:Xpc
|
UTSW |
6 |
91,468,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0759:Xpc
|
UTSW |
6 |
91,475,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1426:Xpc
|
UTSW |
6 |
91,470,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Xpc
|
UTSW |
6 |
91,469,929 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1969:Xpc
|
UTSW |
6 |
91,478,007 (GRCm39) |
splice site |
probably null |
|
|
R2138:Xpc
|
UTSW |
6 |
91,475,104 (GRCm39) |
nonsense |
probably null |
|
|
R2237:Xpc
|
UTSW |
6 |
91,475,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Xpc
|
UTSW |
6 |
91,476,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5318:Xpc
|
UTSW |
6 |
91,469,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Xpc
|
UTSW |
6 |
91,475,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Xpc
|
UTSW |
6 |
91,481,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Xpc
|
UTSW |
6 |
91,476,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6791:Xpc
|
UTSW |
6 |
91,483,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6794:Xpc
|
UTSW |
6 |
91,483,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6983:Xpc
|
UTSW |
6 |
91,481,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7214:Xpc
|
UTSW |
6 |
91,469,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Xpc
|
UTSW |
6 |
91,481,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Xpc
|
UTSW |
6 |
91,476,513 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7581:Xpc
|
UTSW |
6 |
91,474,999 (GRCm39) |
splice site |
probably benign |
|
|
R8002:Xpc
|
UTSW |
6 |
91,469,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8992:Xpc
|
UTSW |
6 |
91,477,956 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCAGGCAAGCAAACAGCTATG -3'
(R):5'- TGCCAGGGTAACCTTACACTGGAG -3'
Sequencing Primer
(F):5'- CACTGGGCTGAAGTTAGGACTC -3'
(R):5'- AGACTTTTGCGAGCCAGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation