Incidental Mutation 'R5098:Dclre1b'
| ID |
388119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1b
|
| Ensembl Gene |
ENSMUSG00000027845 |
| Gene Name |
DNA cross-link repair 1B |
| Synonyms |
mSNM1B, SNMIB, Apollo |
| MMRRC Submission |
042687-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 103716452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000200377]
[ENSMUST00000198752]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000199710]
|
| 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: ENSMUST00000047285
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
525 |
7e-94 |
PFAM |
|
Pfam:Cnd1
|
98 |
269 |
2.4e-11 |
PFAM |
|
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
| 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 benign
Transcript: ENSMUST00000076599
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
525 |
1e-93 |
PFAM |
|
Pfam:Cnd1
|
98 |
286 |
3.9e-10 |
PFAM |
|
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106823
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
374 |
2e-68 |
PFAM |
|
Pfam:Cnd1
|
98 |
285 |
1.4e-10 |
PFAM |
|
Pfam:Adaptin_N
|
371 |
497 |
5.2e-16 |
PFAM |
|
B2-adapt-app_C
|
591 |
703 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106824
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
|
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
|
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000147894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200377
|
| SMART Domains |
Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
7 |
357 |
2.9e-45 |
PFAM |
|
B2-adapt-app_C
|
451 |
563 |
2.8e-46 |
SMART |
|
| 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 |
|
| 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 |
probably benign
Transcript: ENSMUST00000199710
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
|
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
|
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
| Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
| Cd72 |
C |
T |
4: 43,452,610 (GRCm39) |
G74R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
| Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
| Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
| Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
| Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
| Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
| Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
| Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,906,891 (GRCm39) |
|
probably benign |
Het |
| Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
| Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,047 (GRCm39) |
D330E |
probably benign |
Het |
| Ugt2a2 |
T |
C |
5: 87,612,040 (GRCm39) |
E290G |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,643,762 (GRCm39) |
V140A |
probably 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGACAAACCCACCGTGTG -3'
(R):5'- GCGAGCTTTGACAATGTGG -3'
Sequencing Primer
(F):5'- CCGTGTGGTCACAGTGCATG -3'
(R):5'- TGTGAGTGATGCTCTCCCGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation