Incidental Mutation 'R0022:Dclre1b'
| ID |
15233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1b
|
| Ensembl Gene |
ENSMUSG00000027845 |
| Gene Name |
DNA cross-link repair 1B |
| Synonyms |
mSNM1B, SNMIB, Apollo |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103710464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 482
(H482Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000063502]
[ENSMUST00000106832]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000198752]
|
| AlphaFold |
Q8C7W7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029435
AA Change: H482Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: H482Q
| 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
AA Change: H356Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845
AA Change: H356Q
| 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 benign
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
AA Change: H482Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: H482Q
| 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 |
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
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 |
|
IGL03250:Dclre1b
|
APN |
3 |
103,711,380 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
2012-12-12 |
Incidental Mutation