Incidental Mutation 'R0008:Dclre1c'
ID 8214
Institutional Source Beutler Lab
Gene Symbol Dclre1c
Ensembl Gene ENSMUSG00000026648
Gene Name DNA cross-link repair 1C
Synonyms 9930121L06Rik, Art, Artemis
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 3425168-3465167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3439032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
Ref Sequence ENSEMBL: ENSMUSP00000110718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000102988] [ENSMUST00000115066]
AlphaFold Q8K4J0
Predicted Effect probably benign
Transcript: ENSMUST00000061852
AA Change: V194A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: V194A

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 benign
Transcript: ENSMUST00000100463
AA Change: V194A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: V194A

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 benign
Transcript: ENSMUST00000102988
AA Change: V194A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: V194A

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 damaging
Transcript: ENSMUST00000115066
AA Change: V64A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: V64A

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 probably benign
Transcript: ENSMUST00000129657
SMART Domains Protein: ENSMUSP00000116883
Gene: ENSMUSG00000026648

DomainStartEndE-ValueType
Pfam:DRMBL 1 96 1.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132565
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly damaging 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
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
R6519:Dclre1c UTSW 2 3,430,366 (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
Posted On 2012-11-20