Incidental Mutation 'R9080:Dclre1c'
ID |
689934 |
Institutional Source |
Beutler Lab
|
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: 0.258)
|
Stock # |
R9080 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
3425168-3465167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3458589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 389
(M389L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027956]
[ENSMUST00000060618]
[ENSMUST00000061852]
[ENSMUST00000100463]
[ENSMUST00000102988]
[ENSMUST00000115066]
[ENSMUST00000127540]
|
AlphaFold |
Q8K4J0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027956
|
SMART Domains |
Protein: ENSMUSP00000027956 Gene: ENSMUSG00000026646
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
CHROMO
|
117 |
169 |
2.44e-11 |
SMART |
Pfam:Pre-SET
|
212 |
309 |
4.4e-18 |
PFAM |
SET
|
317 |
446 |
4.05e-41 |
SMART |
PostSET
|
461 |
477 |
7.05e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060618
|
SMART Domains |
Protein: ENSMUSP00000054169 Gene: ENSMUSG00000026646
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
SET
|
70 |
226 |
6.61e-23 |
SMART |
PostSET
|
241 |
257 |
7.05e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061852
AA Change: M506L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054300 Gene: ENSMUSG00000026648 AA Change: M506L
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 benign
Transcript: ENSMUST00000100458
|
SMART Domains |
Protein: ENSMUSP00000098026 Gene: ENSMUSG00000026646
Domain | Start | End | E-Value | Type |
CHROMO
|
6 |
67 |
2e-7 |
SMART |
Pfam:Pre-SET
|
110 |
207 |
1.3e-17 |
PFAM |
SET
|
215 |
344 |
4.05e-41 |
SMART |
PostSET
|
359 |
375 |
7.05e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100463
AA Change: M389L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098031 Gene: ENSMUSG00000026648 AA Change: M389L
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 benign
Transcript: ENSMUST00000102988
|
SMART Domains |
Protein: ENSMUSP00000100053 Gene: ENSMUSG00000026648
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
AA Change: M376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110718 Gene: ENSMUSG00000026648 AA Change: M376L
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 |
probably benign
Transcript: ENSMUST00000127540
|
SMART Domains |
Protein: ENSMUSP00000125485 Gene: ENSMUSG00000026646
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116883 Gene: ENSMUSG00000026648 AA Change: M139L
Domain | Start | End | E-Value | Type |
Pfam:DRMBL
|
1 |
96 |
1.6e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
C |
6: 52,155,973 (GRCm39) |
I13T |
unknown |
Het |
Adad1 |
G |
T |
3: 37,119,398 (GRCm39) |
V160L |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,449,427 (GRCm39) |
M279K |
probably damaging |
Het |
Adgra2 |
T |
C |
8: 27,604,529 (GRCm39) |
S535P |
probably benign |
Het |
Akr1c13 |
C |
T |
13: 4,241,172 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,464,426 (GRCm39) |
I1690T |
possibly damaging |
Het |
Ccdc138 |
A |
G |
10: 58,397,884 (GRCm39) |
M575V |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,383,183 (GRCm39) |
N330S |
unknown |
Het |
Col12a1 |
T |
C |
9: 79,517,133 (GRCm39) |
D2849G |
probably benign |
Het |
Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
Cspp1 |
G |
A |
1: 10,183,919 (GRCm39) |
S848N |
probably benign |
Het |
Cxcr5 |
A |
G |
9: 44,424,563 (GRCm39) |
S365P |
probably damaging |
Het |
Dlc1 |
T |
C |
8: 37,052,006 (GRCm39) |
D124G |
probably benign |
Het |
Dtx3 |
A |
T |
10: 127,027,137 (GRCm39) |
S346T |
possibly damaging |
Het |
Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,212 (GRCm39) |
A259V |
probably benign |
Het |
Gm11232 |
A |
T |
4: 71,676,070 (GRCm39) |
M25K |
probably benign |
Het |
Gm4950 |
A |
G |
18: 51,998,922 (GRCm39) |
V11A |
possibly damaging |
Het |
Gsap |
C |
T |
5: 21,399,410 (GRCm39) |
T37I |
possibly damaging |
Het |
Igfbp2 |
T |
A |
1: 72,891,157 (GRCm39) |
C252S |
probably damaging |
Het |
Ing2 |
T |
C |
8: 48,121,808 (GRCm39) |
T247A |
possibly damaging |
Het |
Ints1 |
C |
T |
5: 139,739,300 (GRCm39) |
V2028M |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,466,874 (GRCm39) |
F400L |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,673,633 (GRCm39) |
Y889C |
probably benign |
Het |
Kcnh3 |
A |
G |
15: 99,139,667 (GRCm39) |
E882G |
probably damaging |
Het |
Limch1 |
T |
A |
5: 67,174,992 (GRCm39) |
C515S |
probably benign |
Het |
Lrrc74a |
G |
T |
12: 86,795,908 (GRCm39) |
V294F |
possibly damaging |
Het |
Megf8 |
A |
G |
7: 25,041,131 (GRCm39) |
E1120G |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,912,516 (GRCm39) |
Y1090* |
probably null |
Het |
Nckap1 |
A |
G |
2: 80,350,726 (GRCm39) |
Y794H |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,623,754 (GRCm39) |
M25V |
|
Het |
Ogfod2 |
A |
G |
5: 124,253,007 (GRCm39) |
E339G |
probably damaging |
Het |
Olah |
T |
A |
2: 3,349,389 (GRCm39) |
E64V |
probably damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,830 (GRCm39) |
V197D |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,548,563 (GRCm39) |
L81H |
probably damaging |
Het |
Pdcd6ip |
T |
A |
9: 113,520,624 (GRCm39) |
K120M |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,655,476 (GRCm39) |
I134V |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,359,039 (GRCm39) |
H576R |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,637,494 (GRCm39) |
H127Q |
probably damaging |
Het |
Rmnd5b |
C |
T |
11: 51,515,055 (GRCm39) |
|
probably null |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Sec16b |
C |
A |
1: 157,393,300 (GRCm39) |
Q995K |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,107 (GRCm39) |
S260R |
probably benign |
Het |
Slc47a1 |
C |
T |
11: 61,264,219 (GRCm39) |
G67S |
possibly damaging |
Het |
Slco6d1 |
T |
C |
1: 98,348,983 (GRCm39) |
V18A |
probably benign |
Het |
Tfcp2 |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
15: 100,395,968 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
G |
17: 3,464,519 (GRCm39) |
C83G |
probably benign |
Het |
Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,253,843 (GRCm39) |
G743R |
probably damaging |
Het |
Tnks |
CCCGCCGCCGCCGCCGCCGCCG |
CCCGCCGCCGCCGCCGCCG |
8: 35,432,466 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,536,843 (GRCm39) |
T34994I |
probably benign |
Het |
Ube2q2l |
T |
A |
6: 136,377,720 (GRCm39) |
D370V |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,017 (GRCm39) |
E536D |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,612,308 (GRCm39) |
E836G |
probably damaging |
Het |
Vmn1r41 |
C |
T |
6: 89,724,138 (GRCm39) |
T63M |
unknown |
Het |
Vmn2r72 |
A |
C |
7: 85,387,464 (GRCm39) |
I700S |
probably damaging |
Het |
Xrcc4 |
T |
C |
13: 90,149,097 (GRCm39) |
N141S |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,844,155 (GRCm39) |
V6A |
unknown |
Het |
|
Other mutations in Dclre1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Dclre1c
|
APN |
2 |
3,434,821 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCCCATGAAGGTGATTTTG -3'
(R):5'- CATGCCCTTTTGAACAGATACTTG -3'
Sequencing Primer
(F):5'- ATACTGTAGCTTCTCTCAAACCAGG -3'
(R):5'- CTTGGCCAGAGTTATGTC -3'
|
Posted On |
2021-11-19 |