Incidental Mutation 'IGL02311:Dclre1b'
| ID |
287817 |
| 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 # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 103715409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 30
(F30V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000198752]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
| AlphaFold |
Q8C7W7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029435
AA Change: F112V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: F112V
| 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 |
possibly damaging
Transcript: ENSMUST00000106832
AA Change: F112V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845
AA Change: F112V
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198752
AA Change: F30V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845
AA Change: F30V
| 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 damaging
Transcript: ENSMUST00000106834
AA Change: F112V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: F112V
| 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 |
silent
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: ENSMUST00000198835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation