Incidental Mutation 'R8868:Dclre1b'
ID 676066
Institutional Source Beutler Lab
Gene Symbol Dclre1b
Ensembl Gene ENSMUSG00000027845
Gene Name DNA cross-link repair 1B
Synonyms mSNM1B, SNMIB, Apollo
MMRRC Submission 068683-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8868 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 103707921-103716703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103710654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 419 (N419S)
Ref Sequence ENSEMBL: ENSMUSP00000029435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000063502] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752]
AlphaFold Q8C7W7
Predicted Effect probably benign
Transcript: ENSMUST00000029435
AA Change: N419S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: N419S

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: ENSMUST00000063502
AA Change: N293S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845
AA Change: N293S

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 benign
Transcript: ENSMUST00000106834
AA Change: N419S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: N419S

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 probably benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 T A 9: 26,890,544 (GRCm39) N255Y probably damaging Het
Accsl A C 2: 93,696,490 (GRCm39) L36R probably benign Het
Acvr2a T A 2: 48,763,469 (GRCm39) V171E probably benign Het
Adgrl3 A G 5: 81,794,451 (GRCm39) I491V probably benign Het
Ak9 G A 10: 41,193,842 (GRCm39) probably null Het
Ak9 G T 10: 41,258,869 (GRCm39) E789* probably null Het
Akr1c19 T A 13: 4,293,070 (GRCm39) N275K probably benign Het
Alg1 A G 16: 5,061,557 (GRCm39) H398R probably benign Het
Apol11a T A 15: 77,401,209 (GRCm39) I232N probably damaging Het
Cacnb2 A G 2: 14,989,080 (GRCm39) I437V probably benign Het
Catsper4 A G 4: 133,954,417 (GRCm39) probably null Het
Cdhr17 G A 5: 17,028,152 (GRCm39) G449D probably benign Het
Crnn T C 3: 93,055,609 (GRCm39) C132R probably benign Het
Cyp4a14 T A 4: 115,348,553 (GRCm39) H337L probably damaging Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
Dip2c A G 13: 9,625,503 (GRCm39) D621G possibly damaging Het
Dmwd T A 7: 18,814,694 (GRCm39) L448Q probably damaging Het
Dnajc13 G A 9: 104,042,987 (GRCm39) H1922Y probably benign Het
E2f3 A T 13: 30,095,301 (GRCm39) I329N probably damaging Het
Eml2 G A 7: 18,927,988 (GRCm39) V266M probably benign Het
Entpd2 A G 2: 25,289,725 (GRCm39) T376A probably benign Het
Flnb A G 14: 7,908,671 (GRCm38) T1350A probably benign Het
Fmnl2 A G 2: 53,016,077 (GRCm39) E999G unknown Het
Hivep1 A G 13: 42,312,407 (GRCm39) Q1549R possibly damaging Het
Hps6 G A 19: 45,992,446 (GRCm39) V128M possibly damaging Het
Ifi27l2a T C 12: 103,402,899 (GRCm39) S66P possibly damaging Het
Ikbip T C 10: 90,932,187 (GRCm39) V277A possibly damaging Het
Ints8 T C 4: 11,230,488 (GRCm39) E451G probably benign Het
Itih2 A T 2: 10,132,600 (GRCm39) S64T probably benign Het
Kcnc4 T A 3: 107,355,452 (GRCm39) E332V probably damaging Het
Krt23 T C 11: 99,374,567 (GRCm39) probably benign Het
Lrpprc C A 17: 85,078,920 (GRCm39) G265C probably damaging Het
Nav1 G T 1: 135,512,943 (GRCm39) A39E probably benign Het
Ogfod1 G T 8: 94,773,906 (GRCm39) D103Y probably damaging Het
Or7g20 T G 9: 18,946,778 (GRCm39) Y120D probably damaging Het
Or8b55 G A 9: 38,727,285 (GRCm39) C162Y probably damaging Het
Or8g37 A G 9: 39,731,252 (GRCm39) T106A probably benign Het
Ppp1r3a A T 6: 14,755,014 (GRCm39) S78T probably damaging Het
Rnf148 A T 6: 23,654,540 (GRCm39) V152E probably damaging Het
Sdf2 A T 11: 78,136,970 (GRCm39) H50L probably damaging Het
Sec1 T A 7: 45,328,700 (GRCm39) M116L probably benign Het
Sema6d T C 2: 124,496,114 (GRCm39) S53P probably damaging Het
Siae A G 9: 37,528,132 (GRCm39) Y35C probably damaging Het
Slc18b1 A T 10: 23,686,751 (GRCm39) Y189F probably damaging Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spef2 T C 15: 9,729,747 (GRCm39) T124A possibly damaging Het
Strn4 G A 7: 16,560,570 (GRCm39) E241K probably benign Het
Svep1 A G 4: 58,135,578 (GRCm39) I510T possibly damaging Het
Svop T C 5: 114,170,854 (GRCm39) D395G probably damaging Het
Tbc1d14 A C 5: 36,728,888 (GRCm39) S159R probably damaging Het
Tex50 T A 1: 160,984,848 (GRCm39) I131F possibly damaging Het
Tssk1 A G 16: 17,712,884 (GRCm39) K223R probably benign Het
Ttc3 A G 16: 94,252,002 (GRCm39) I1565V probably benign Het
Ttn A T 2: 76,541,938 (GRCm39) F33683I possibly damaging Het
Ttn T C 2: 76,783,470 (GRCm39) M887V unknown Het
Usp45 G A 4: 21,815,399 (GRCm39) probably null Het
Wdr47 C T 3: 108,498,841 (GRCm39) probably benign Het
Xirp1 A G 9: 119,846,871 (GRCm39) S671P probably benign Het
Zbtb18 A G 1: 177,274,682 (GRCm39) D5G probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp260 T G 7: 29,804,914 (GRCm39) Y271* probably null Het
Zfp369 T A 13: 65,445,082 (GRCm39) S742T possibly damaging Het
Zfp786 A T 6: 47,802,015 (GRCm39) D87E probably 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
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
Predicted Primers PCR Primer
(F):5'- GAGTTAGAGGAACAGCTCTGC -3'
(R):5'- TCCCCTGAGGAGAAAGCTAATC -3'

Sequencing Primer
(F):5'- ACAGCTCTGCTAATGTGAGC -3'
(R):5'- TCAGGTTAAAGTTGACAGAGACTC -3'
Posted On 2021-07-15