Incidental Mutation 'R2914:Dclre1b'
ID |
254791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dclre1b
|
Ensembl Gene |
ENSMUSG00000027845 |
Gene Name |
DNA cross-link repair 1B |
Synonyms |
mSNM1B, SNMIB, Apollo |
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103715430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 105
(M105V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000106834]
[ENSMUST00000198752]
[ENSMUST00000199710]
[ENSMUST00000200377]
[ENSMUST00000128716]
|
AlphaFold |
Q8C7W7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029435
AA Change: M105V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029435 Gene: ENSMUSG00000027845 AA Change: M105V
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 damaging
Transcript: ENSMUST00000106832
AA Change: M105V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102445 Gene: ENSMUSG00000027845 AA Change: M105V
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106834
AA Change: M105V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102447 Gene: ENSMUSG00000027845 AA Change: M105V
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 damaging
Transcript: ENSMUST00000198752
AA Change: M23V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143067 Gene: ENSMUSG00000027845 AA Change: M23V
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 |
noncoding transcript
Transcript: ENSMUST00000145893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
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 |
|
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: 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 |
|
Meta Mutation Damage Score |
0.4906 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAAATGTCTCTTTCCCACTCTTGG -3'
(R):5'- TCAGAACTCGGTCAGCTTTCC -3'
Sequencing Primer
(F):5'- CTGGGTGTCCTAGAACTCACTAAG -3'
(R):5'- GAACTCGGTCAGCTTTCCTTGATG -3'
|
Posted On |
2014-12-29 |