Incidental Mutation 'IGL03410:Dclre1b'
ID421768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dclre1b
Ensembl Gene ENSMUSG00000027845
Gene NameDNA cross-link repair 1B
SynonymsSNMIB, Apollo, mSNM1B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03410
Quality Score
Status
Chromosome3
Chromosomal Location103800605-103809444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103808140 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 14 (D14V)
Ref Sequence ENSEMBL: ENSMUSP00000143067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000047285] [ENSMUST00000063502] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752] [ENSMUST00000199710] [ENSMUST00000200377]
Predicted Effect probably damaging
Transcript: ENSMUST00000029435
AA Change: D96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: D96V

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 benign
Transcript: ENSMUST00000047285
SMART Domains Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952

DomainStartEndE-ValueType
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

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: ENSMUST00000076599
SMART Domains Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D96V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845
AA Change: D96V

DomainStartEndE-ValueType
Lactamase_B 1 175 2.06e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106834
AA Change: D96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: D96V

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 noncoding transcript
Transcript: ENSMUST00000149374
Predicted Effect probably damaging
Transcript: ENSMUST00000198752
AA Change: D14V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845
AA Change: D14V

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 probably benign
Transcript: ENSMUST00000199710
SMART Domains Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000199723
Predicted Effect probably benign
Transcript: ENSMUST00000200377
SMART Domains Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952

DomainStartEndE-ValueType
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Dclre1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Dclre1b APN 3 103803126 missense probably benign
IGL01411:Dclre1b APN 3 103803323 missense probably damaging 1.00
IGL02311:Dclre1b APN 3 103808093 missense probably damaging 1.00
IGL03250:Dclre1b APN 3 103804064 unclassified probably null
IGL03046:Dclre1b UTSW 3 103803281 missense probably benign 0.00
R0022:Dclre1b UTSW 3 103803148 missense probably benign 0.03
R0022:Dclre1b UTSW 3 103803148 missense probably benign 0.03
R1173:Dclre1b UTSW 3 103803876 missense probably benign 0.00
R1997:Dclre1b UTSW 3 103803356 missense probably benign 0.02
R2051:Dclre1b UTSW 3 103809040 missense possibly damaging 0.68
R2914:Dclre1b UTSW 3 103808114 missense probably damaging 0.98
R3420:Dclre1b UTSW 3 103808096 missense probably damaging 1.00
R4247:Dclre1b UTSW 3 103804084 intron probably null
R4250:Dclre1b UTSW 3 103804084 intron probably null
R4474:Dclre1b UTSW 3 103807243 unclassified probably benign
R4866:Dclre1b UTSW 3 103808096 missense probably damaging 0.99
R5098:Dclre1b UTSW 3 103809136 unclassified probably benign
R5375:Dclre1b UTSW 3 103803974 missense probably damaging 1.00
R5796:Dclre1b UTSW 3 103807457 nonsense probably null
R5888:Dclre1b UTSW 3 103803737 missense probably damaging 1.00
R6189:Dclre1b UTSW 3 103803533 missense probably damaging 1.00
R6356:Dclre1b UTSW 3 103808155 missense probably damaging 1.00
R6443:Dclre1b UTSW 3 103803188 missense possibly damaging 0.82
Posted On2016-08-02