Incidental Mutation 'IGL03250:Dclre1b'
ID |
414542 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dclre1b
|
Ensembl Gene |
ENSMUSG00000027845 |
Gene Name |
DNA cross-link repair 1B |
Synonyms |
mSNM1B, SNMIB, Apollo |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03250
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
Type of Mutation |
splice site (1870 bp from exon) |
DNA Base Change (assembly) |
T to C
at 103711380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000063502]
[ENSMUST00000106832]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000198752]
|
AlphaFold |
Q8C7W7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029435
|
SMART Domains |
Protein: ENSMUSP00000029435 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
Pfam:DRMBL
|
215 |
301 |
1e-13 |
PFAM |
PDB:3BUA|H
|
492 |
526 |
1e-10 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063502
|
SMART Domains |
Protein: ENSMUSP00000067695 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
49 |
4e-24 |
BLAST |
Pfam:DRMBL
|
89 |
176 |
7.4e-20 |
PFAM |
PDB:3BUA|H
|
366 |
400 |
8e-11 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106832
|
SMART Domains |
Protein: ENSMUSP00000102445 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106834
|
SMART Domains |
Protein: ENSMUSP00000102447 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
Pfam:DRMBL
|
215 |
302 |
7.9e-20 |
PFAM |
PDB:3BUA|H
|
492 |
526 |
1e-10 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128716
|
SMART Domains |
Protein: ENSMUSP00000121063 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
63 |
3e-40 |
BLAST |
PDB:3ZDK|A
|
1 |
63 |
3e-34 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198752
|
SMART Domains |
Protein: ENSMUSP00000143067 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
93 |
2e-64 |
BLAST |
PDB:3ZDK|A
|
1 |
97 |
1e-62 |
PDB |
SCOP:d1a7ta_
|
3 |
93 |
5e-6 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size and neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
Het |
Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
possibly damaging |
Het |
|
Other mutations in Dclre1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:Dclre1b
|
APN |
3 |
103,710,442 (GRCm39) |
missense |
probably benign |
|
IGL01411:Dclre1b
|
APN |
3 |
103,710,639 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02311:Dclre1b
|
APN |
3 |
103,715,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03410:Dclre1b
|
APN |
3 |
103,715,456 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Dclre1b
|
UTSW |
3 |
103,710,597 (GRCm39) |
missense |
probably benign |
0.00 |
R0022:Dclre1b
|
UTSW |
3 |
103,710,464 (GRCm39) |
missense |
probably benign |
0.03 |
R0022:Dclre1b
|
UTSW |
3 |
103,710,464 (GRCm39) |
missense |
probably benign |
0.03 |
R1173:Dclre1b
|
UTSW |
3 |
103,711,192 (GRCm39) |
missense |
probably benign |
0.00 |
R1997:Dclre1b
|
UTSW |
3 |
103,710,672 (GRCm39) |
missense |
probably benign |
0.02 |
R2051:Dclre1b
|
UTSW |
3 |
103,716,356 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2914:Dclre1b
|
UTSW |
3 |
103,715,430 (GRCm39) |
missense |
probably damaging |
0.98 |
R3420:Dclre1b
|
UTSW |
3 |
103,715,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R4247:Dclre1b
|
UTSW |
3 |
103,711,400 (GRCm39) |
splice site |
probably null |
|
R4250:Dclre1b
|
UTSW |
3 |
103,711,400 (GRCm39) |
splice site |
probably null |
|
R4474:Dclre1b
|
UTSW |
3 |
103,714,559 (GRCm39) |
unclassified |
probably benign |
|
R4866:Dclre1b
|
UTSW |
3 |
103,715,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R5098:Dclre1b
|
UTSW |
3 |
103,716,452 (GRCm39) |
unclassified |
probably benign |
|
R5375:Dclre1b
|
UTSW |
3 |
103,711,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5796:Dclre1b
|
UTSW |
3 |
103,714,773 (GRCm39) |
nonsense |
probably null |
|
R5888:Dclre1b
|
UTSW |
3 |
103,711,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R6189:Dclre1b
|
UTSW |
3 |
103,710,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R6356:Dclre1b
|
UTSW |
3 |
103,715,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R6443:Dclre1b
|
UTSW |
3 |
103,710,504 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7471:Dclre1b
|
UTSW |
3 |
103,710,430 (GRCm39) |
missense |
probably benign |
0.00 |
R7994:Dclre1b
|
UTSW |
3 |
103,710,702 (GRCm39) |
missense |
probably damaging |
0.99 |
R8683:Dclre1b
|
UTSW |
3 |
103,711,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R8868:Dclre1b
|
UTSW |
3 |
103,710,654 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |