Incidental Mutation 'IGL00327:Dclre1c'
| ID |
7285 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dclre1c
|
| Ensembl Gene |
ENSMUSG00000026648 |
| Gene Name |
DNA cross-link repair 1C |
| Synonyms |
9930121L06Rik, Art, Artemis |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.287)
|
| Stock # |
IGL00327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3425168-3465167 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 3434821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 95
(L95*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061852]
[ENSMUST00000100463]
[ENSMUST00000102988]
[ENSMUST00000115066]
|
| AlphaFold |
Q8K4J0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061852
AA Change: L95*
|
| SMART Domains |
Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: L95*
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
10 |
193 |
7.78e0 |
SMART |
|
Pfam:DRMBL
|
239 |
345 |
1.6e-22 |
PFAM |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
601 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100463
AA Change: L95*
|
| SMART Domains |
Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: L95*
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
10 |
193 |
7.78e0 |
SMART |
|
Pfam:DRMBL
|
239 |
345 |
6.5e-23 |
PFAM |
|
low complexity region
|
476 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102988
AA Change: L95*
|
| SMART Domains |
Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: L95*
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
10 |
193 |
7.78e0 |
SMART |
|
Pfam:DRMBL
|
239 |
345 |
8.8e-23 |
PFAM |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
518 |
534 |
4.97e-8 |
PROSPERO |
|
internal_repeat_1
|
525 |
541 |
4.97e-8 |
PROSPERO |
|
low complexity region
|
545 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115066
|
| SMART Domains |
Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
25 |
70 |
1e-19 |
BLAST |
|
Pfam:DRMBL
|
109 |
215 |
1.1e-22 |
PFAM |
|
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146027
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the SNM1 family of nucleases and is involved in V(D)J recombination and DNA repair. This protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Homozygous knockout mice for this gene exhibit severe combined immunodeficiency with sensitivity to ionizing radiation. Mutations in this gene in humans can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
A |
G |
7: 100,949,367 (GRCm39) |
L60S |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,033,390 (GRCm39) |
E267G |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,116,764 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,074,670 (GRCm39) |
Y484H |
probably benign |
Het |
| Colq |
C |
T |
14: 31,257,545 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,431,867 (GRCm39) |
D1242G |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,383,610 (GRCm39) |
E94G |
probably damaging |
Het |
| Krt6b |
T |
G |
15: 101,588,267 (GRCm39) |
Q131P |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,926,265 (GRCm39) |
L414P |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,793,920 (GRCm39) |
M328K |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,197 (GRCm39) |
L22F |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,242,514 (GRCm39) |
D388G |
probably damaging |
Het |
| Mrpl44 |
C |
T |
1: 79,758,721 (GRCm39) |
L290F |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,421 (GRCm39) |
H160R |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,773,030 (GRCm39) |
N109S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,040,700 (GRCm39) |
T553A |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,174 (GRCm39) |
T894K |
probably benign |
Het |
| Scgb2b27 |
A |
G |
7: 33,712,771 (GRCm39) |
C24R |
probably damaging |
Het |
| Sipa1l3 |
G |
T |
7: 29,053,558 (GRCm39) |
H140N |
probably damaging |
Het |
| Slc22a23 |
T |
G |
13: 34,489,228 (GRCm39) |
D219A |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 20,005,158 (GRCm39) |
Y557C |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,854,851 (GRCm39) |
I600N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,503,643 (GRCm39) |
N190S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,299,447 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,082,512 (GRCm39) |
V501A |
probably benign |
Het |
|
| Other mutations in Dclre1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02165:Dclre1c
|
APN |
2 |
3,451,418 (GRCm39) |
splice site |
probably benign |
|
|
IGL02955:Dclre1c
|
APN |
2 |
3,439,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Dclre1c
|
APN |
2 |
3,438,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chairy
|
UTSW |
2 |
3,453,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
delimited
|
UTSW |
2 |
3,425,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kiwis
|
UTSW |
2 |
3,437,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kleiner
|
UTSW |
2 |
3,425,273 (GRCm39) |
nonsense |
probably null |
|
|
pee-wee
|
UTSW |
2 |
3,438,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tyrant
|
UTSW |
2 |
3,434,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
western_woods
|
UTSW |
2 |
3,454,206 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0008:Dclre1c
|
UTSW |
2 |
3,439,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Dclre1c
|
UTSW |
2 |
3,439,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0520:Dclre1c
|
UTSW |
2 |
3,437,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Dclre1c
|
UTSW |
2 |
3,441,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1994:Dclre1c
|
UTSW |
2 |
3,439,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Dclre1c
|
UTSW |
2 |
3,453,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4420:Dclre1c
|
UTSW |
2 |
3,434,782 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4710:Dclre1c
|
UTSW |
2 |
3,441,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5789:Dclre1c
|
UTSW |
2 |
3,438,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Dclre1c
|
UTSW |
2 |
3,453,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Dclre1c
|
UTSW |
2 |
3,438,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Dclre1c
|
UTSW |
2 |
3,430,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Dclre1c
|
UTSW |
2 |
3,454,206 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7785:Dclre1c
|
UTSW |
2 |
3,425,273 (GRCm39) |
nonsense |
probably null |
|
|
R8111:Dclre1c
|
UTSW |
2 |
3,448,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8828:Dclre1c
|
UTSW |
2 |
3,444,714 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8926:Dclre1c
|
UTSW |
2 |
3,434,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9080:Dclre1c
|
UTSW |
2 |
3,458,589 (GRCm39) |
missense |
probably benign |
|
|
R9127:Dclre1c
|
UTSW |
2 |
3,439,125 (GRCm39) |
missense |
|
|
|
R9387:Dclre1c
|
UTSW |
2 |
3,425,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dclre1c
|
UTSW |
2 |
3,439,117 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-04-20 |
Incidental Mutation