Incidental Mutation 'R5789:Dclre1c'
| ID |
448189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1c
|
| Ensembl Gene |
ENSMUSG00000026648 |
| Gene Name |
DNA cross-link repair 1C |
| Synonyms |
9930121L06Rik, Art, Artemis |
| MMRRC Submission |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3425168-3465167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3438993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 51
(Q51L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061852]
[ENSMUST00000100463]
[ENSMUST00000102988]
[ENSMUST00000115066]
|
| AlphaFold |
Q8K4J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061852
AA Change: Q181L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: Q181L
| 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: ENSMUST00000100463
AA Change: Q181L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: Q181L
| 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
AA Change: Q181L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: Q181L
| 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 damaging
Transcript: ENSMUST00000115066
AA Change: Q51L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: Q51L
| 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: ENSMUST00000129657
|
| SMART Domains |
Protein: ENSMUSP00000116883
Gene: ENSMUSG00000026648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DRMBL
|
1 |
96 |
1.6e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146027
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATATGCCTGGGGTGATG -3'
(R):5'- TGTGTCTAGGCAAGCTGCTC -3'
Sequencing Primer
(F):5'- CCTGGGGTGATGAGTCTCC -3'
(R):5'- CACATCCCTGGTTTCGGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation