Incidental Mutation 'R6519:Dclre1c'
ID 520944
Institutional Source Beutler Lab
Gene Symbol Dclre1c
Ensembl Gene ENSMUSG00000026648
Gene Name DNA cross-link repair 1C
Synonyms 9930121L06Rik, Art, Artemis
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 3425168-3465167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3430366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 75 (Y75H)
Ref Sequence ENSEMBL: ENSMUSP00000100053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000102988] [ENSMUST00000115066]
AlphaFold Q8K4J0
Predicted Effect probably damaging
Transcript: ENSMUST00000061852
AA Change: Y75H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: Y75H

DomainStartEndE-ValueType
Lactamase_B 10 193 7.78e0 SMART
Pfam:DRMBL 239 345 1.6e-22 PFAM
low complexity region 383 400 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
low complexity region 593 601 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100463
AA Change: Y75H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: Y75H

DomainStartEndE-ValueType
Lactamase_B 10 193 7.78e0 SMART
Pfam:DRMBL 239 345 6.5e-23 PFAM
low complexity region 476 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102988
AA Change: Y75H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: Y75H

DomainStartEndE-ValueType
Lactamase_B 10 193 7.78e0 SMART
Pfam:DRMBL 239 345 8.8e-23 PFAM
low complexity region 383 400 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
internal_repeat_1 518 534 4.97e-8 PROSPERO
internal_repeat_1 525 541 4.97e-8 PROSPERO
low complexity region 545 559 N/A INTRINSIC
low complexity region 652 662 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115066
SMART Domains Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648

DomainStartEndE-ValueType
Blast:Lactamase_B 25 70 1e-19 BLAST
Pfam:DRMBL 109 215 1.1e-22 PFAM
low complexity region 253 270 N/A INTRINSIC
low complexity region 333 347 N/A INTRINSIC
low complexity region 463 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146027
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: This gene encodes a member of the SNM1 family of nucleases and is involved in V(D)J recombination and DNA repair. This protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Homozygous knockout mice for this gene exhibit severe combined immunodeficiency with sensitivity to ionizing radiation. Mutations in this gene in humans can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null Het
Other mutations in Dclre1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Dclre1c APN 2 3,434,821 (GRCm39) nonsense probably null
IGL02165:Dclre1c APN 2 3,451,418 (GRCm39) splice site probably benign
IGL02955:Dclre1c APN 2 3,439,089 (GRCm39) missense probably damaging 1.00
IGL02961:Dclre1c APN 2 3,438,070 (GRCm39) missense probably damaging 1.00
Chairy UTSW 2 3,453,900 (GRCm39) missense probably damaging 1.00
delimited UTSW 2 3,425,342 (GRCm39) missense probably damaging 1.00
kiwis UTSW 2 3,437,512 (GRCm39) missense probably damaging 1.00
kleiner UTSW 2 3,425,273 (GRCm39) nonsense probably null
pee-wee UTSW 2 3,438,742 (GRCm39) missense probably damaging 1.00
tyrant UTSW 2 3,434,827 (GRCm39) missense probably damaging 0.97
western_woods UTSW 2 3,454,206 (GRCm39) missense possibly damaging 0.68
R0008:Dclre1c UTSW 2 3,439,032 (GRCm39) missense probably damaging 0.99
R0008:Dclre1c UTSW 2 3,439,032 (GRCm39) missense probably damaging 0.99
R0520:Dclre1c UTSW 2 3,437,512 (GRCm39) missense probably damaging 1.00
R1922:Dclre1c UTSW 2 3,441,819 (GRCm39) missense possibly damaging 0.95
R1994:Dclre1c UTSW 2 3,439,022 (GRCm39) missense probably damaging 1.00
R4418:Dclre1c UTSW 2 3,453,972 (GRCm39) missense possibly damaging 0.82
R4420:Dclre1c UTSW 2 3,434,782 (GRCm39) critical splice acceptor site probably null
R4710:Dclre1c UTSW 2 3,441,898 (GRCm39) critical splice donor site probably null
R5789:Dclre1c UTSW 2 3,438,993 (GRCm39) missense probably damaging 1.00
R6113:Dclre1c UTSW 2 3,453,900 (GRCm39) missense probably damaging 1.00
R6148:Dclre1c UTSW 2 3,438,742 (GRCm39) missense probably damaging 1.00
R6964:Dclre1c UTSW 2 3,454,206 (GRCm39) missense possibly damaging 0.68
R7785:Dclre1c UTSW 2 3,425,273 (GRCm39) nonsense probably null
R8111:Dclre1c UTSW 2 3,448,185 (GRCm39) missense probably benign 0.00
R8828:Dclre1c UTSW 2 3,444,714 (GRCm39) missense possibly damaging 0.89
R8926:Dclre1c UTSW 2 3,434,827 (GRCm39) missense probably damaging 0.97
R9080:Dclre1c UTSW 2 3,458,589 (GRCm39) missense probably benign
R9127:Dclre1c UTSW 2 3,439,125 (GRCm39) missense
R9387:Dclre1c UTSW 2 3,425,342 (GRCm39) missense probably damaging 1.00
Z1088:Dclre1c UTSW 2 3,439,117 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCCACTGTCAGATTGTTGTCAAC -3'
(R):5'- TGAGTCACACCTCAGACACTATTC -3'

Sequencing Primer
(F):5'- ACTGTCAGATTGTTGTCAACTGATTG -3'
(R):5'- CACCTCAGACACTATTCTAATTCATG -3'
Posted On 2018-06-06