Incidental Mutation 'R4250:Dclre1b'
ID 321296
Institutional Source Beutler Lab
Gene Symbol Dclre1b
Ensembl Gene ENSMUSG00000027845
Gene Name DNA cross-link repair 1B
Synonyms mSNM1B, SNMIB, Apollo
MMRRC Submission 041066-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4250 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103707921-103716703 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 103711400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000063502] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752]
AlphaFold Q8C7W7
Predicted Effect probably null
Transcript: ENSMUST00000029435
SMART Domains Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000063502
SMART Domains Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Lactamase_B 1 175 2.06e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106834
SMART Domains Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
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: ENSMUST00000106834
SMART Domains Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000198752
SMART Domains Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2a1d C T 9: 88,613,706 (GRCm39) V23I probably benign Het
Birc2 A T 9: 7,818,936 (GRCm39) L552M probably benign Het
Chst3 A T 10: 60,021,890 (GRCm39) L319Q probably damaging Het
Col19a1 T C 1: 24,564,726 (GRCm39) T296A unknown Het
Colgalt2 A T 1: 152,365,638 (GRCm39) I313L probably benign Het
Ezr A T 17: 7,022,196 (GRCm39) I94N probably damaging Het
Fry T G 5: 150,233,825 (GRCm39) I99S probably damaging Het
Hba-x T C 11: 32,228,000 (GRCm39) Y155H probably damaging Het
Herc3 T A 6: 58,893,501 (GRCm39) V921D probably damaging Het
Hoxb5 T C 11: 96,194,854 (GRCm39) S139P possibly damaging Het
Icam5 A G 9: 20,949,035 (GRCm39) T796A probably damaging Het
Igkv8-26 G A 6: 70,170,230 (GRCm39) V7I probably benign Het
Ikzf1 C T 11: 11,704,166 (GRCm39) T194M probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Or5b97 T C 19: 12,878,368 (GRCm39) M259V probably benign Het
Padi2 A G 4: 140,633,857 (GRCm39) Y38C probably damaging Het
Pilra A T 5: 137,821,814 (GRCm39) S274T probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Rreb1 T C 13: 38,077,869 (GRCm39) V27A possibly damaging Het
Rxfp1 A G 3: 79,559,579 (GRCm39) V414A probably benign Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Sirt1 T A 10: 63,172,877 (GRCm39) probably null Het
Slc5a6 A G 5: 31,195,062 (GRCm39) S512P probably benign Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sp7 T A 15: 102,267,327 (GRCm39) T160S possibly damaging Het
Tcte1 A G 17: 45,850,617 (GRCm39) I298V probably benign Het
Trmt9b C A 8: 36,979,366 (GRCm39) T323K probably benign Het
Ttc4 G A 4: 106,522,880 (GRCm39) T346I probably damaging Het
Ttn T C 2: 76,544,056 (GRCm39) T32977A probably damaging Het
Yeats2 A G 16: 19,975,685 (GRCm39) K114E possibly damaging Het
Zdbf2 T C 1: 63,342,020 (GRCm39) V133A possibly damaging Het
Other mutations in Dclre1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGATCTCCGTATGGTCCACAG -3'
(R):5'- GATGCTTGGTAGATGCCGTC -3'

Sequencing Primer
(F):5'- CAGGCGTTGAGGACTTAA -3'
(R):5'- GCACCTTGATAAACTTCTTGG -3'
Posted On 2015-06-12