Incidental Mutation 'R5796:Dclre1b'
| ID |
447214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1b
|
| Ensembl Gene |
ENSMUSG00000027845 |
| Gene Name |
DNA cross-link repair 1B |
| Synonyms |
mSNM1B, SNMIB, Apollo |
| MMRRC Submission |
043387-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5796 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103707921-103716703 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 103714773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 77
(Q77*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000106834]
[ENSMUST00000198752]
[ENSMUST00000200377]
[ENSMUST00000199710]
[ENSMUST00000128716]
|
| AlphaFold |
Q8C7W7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029435
AA Change: Q159*
|
| SMART Domains |
Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: Q159*
| 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 null
Transcript: ENSMUST00000063502
AA Change: Q33*
|
| SMART Domains |
Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845
AA Change: Q33*
| 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 null
Transcript: ENSMUST00000106832
AA Change: Q159*
|
| SMART Domains |
Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845
AA Change: Q159*
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106834
AA Change: Q159*
|
| SMART Domains |
Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: Q159*
| 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 null
Transcript: ENSMUST00000198752
AA Change: Q77*
|
| SMART Domains |
Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845
AA Change: Q77*
| 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: ENSMUST00000198835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
| 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: 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: 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
93% (51/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,215,077 (GRCm39) |
T9A |
possibly damaging |
Het |
| Abcd3 |
G |
A |
3: 121,578,147 (GRCm39) |
R160W |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,549,871 (GRCm39) |
T758K |
possibly damaging |
Het |
| Ate1 |
T |
C |
7: 130,068,998 (GRCm39) |
Y423C |
probably damaging |
Het |
| Bsn |
C |
T |
9: 108,003,223 (GRCm39) |
G394D |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,788,073 (GRCm39) |
D1599G |
probably damaging |
Het |
| Cd33 |
A |
G |
7: 43,182,480 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,064,101 (GRCm39) |
T81A |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,611,111 (GRCm39) |
N154D |
possibly damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,716,517 (GRCm39) |
Y40N |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,823 (GRCm39) |
N1197D |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,104,558 (GRCm39) |
M590L |
probably benign |
Het |
| Efcab14 |
A |
T |
4: 115,603,780 (GRCm39) |
I153F |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,927,100 (GRCm39) |
V460A |
probably benign |
Het |
| Fgl1 |
T |
G |
8: 41,652,796 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,782 (GRCm39) |
S1697P |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm15056 |
C |
A |
8: 21,391,998 (GRCm39) |
|
probably benign |
Het |
| Gm17409 |
T |
A |
2: 58,361,034 (GRCm39) |
|
probably benign |
Het |
| Gm20730 |
A |
G |
6: 43,058,464 (GRCm39) |
L116P |
probably damaging |
Het |
| Grb2 |
T |
G |
11: 115,536,698 (GRCm39) |
H184P |
probably benign |
Het |
| Hepacam2 |
G |
C |
6: 3,466,200 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
A |
T |
3: 98,354,168 (GRCm39) |
D110E |
probably benign |
Het |
| Igkv4-55 |
T |
A |
6: 69,584,432 (GRCm39) |
K60M |
possibly damaging |
Het |
| Itfg1 |
T |
A |
8: 86,445,522 (GRCm39) |
H603L |
probably damaging |
Het |
| Katna1 |
C |
A |
10: 7,636,575 (GRCm39) |
D366E |
probably damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,665,752 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,722 (GRCm39) |
T464A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,411,133 (GRCm39) |
S1360P |
unknown |
Het |
| Nckipsd |
T |
G |
9: 108,688,813 (GRCm39) |
V116G |
probably benign |
Het |
| Nhsl1 |
C |
T |
10: 18,399,998 (GRCm39) |
S374L |
probably benign |
Het |
| Oxt |
G |
A |
2: 130,418,533 (GRCm39) |
G48D |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,341,778 (GRCm39) |
N69S |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,259,571 (GRCm39) |
T337I |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,615,446 (GRCm39) |
D818V |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,168 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
T |
A |
11: 115,818,691 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,322,970 (GRCm39) |
D830V |
probably benign |
Het |
| Rps6kb1 |
C |
T |
11: 86,402,677 (GRCm39) |
G339S |
probably benign |
Het |
| Rtel1 |
G |
A |
2: 180,982,299 (GRCm39) |
E350K |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,832 (GRCm39) |
S368P |
possibly damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,645 (GRCm39) |
H80R |
probably damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,619 (GRCm39) |
M473K |
probably benign |
Het |
| Tbrg1 |
A |
G |
9: 37,563,871 (GRCm39) |
|
probably benign |
Het |
| Tcf7 |
A |
G |
11: 52,152,354 (GRCm39) |
I65T |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,960,824 (GRCm39) |
D618G |
probably benign |
Het |
| Tuba3b |
C |
T |
6: 145,565,408 (GRCm39) |
T292I |
probably damaging |
Het |
| Vmn1r63 |
G |
A |
7: 5,806,140 (GRCm39) |
S164L |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,832,774 (GRCm39) |
K142E |
probably damaging |
Het |
| Zmym3 |
G |
A |
X: 100,459,406 (GRCm39) |
P308L |
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 |
|
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 |
|
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'- AGGATGGTGGGCAAGTTCAC -3'
(R):5'- AATCTCCATCTGCTACTGAAGG -3'
Sequencing Primer
(F):5'- TTGGAACTCACTATGTAGACCAGGC -3'
(R):5'- TACTGAAGGTAGAAGAGGCTTGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation