Incidental Mutation 'R4710:Dclre1c'
ID 353179
Institutional Source Beutler Lab
Gene Symbol Dclre1c
Ensembl Gene ENSMUSG00000026648
Gene Name DNA cross-link repair 1C
Synonyms 9930121L06Rik, Art, Artemis
MMRRC Submission 042019-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 3425168-3465167 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 3441898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000102988] [ENSMUST00000115066]
AlphaFold Q8K4J0
Predicted Effect probably null
Transcript: ENSMUST00000061852
SMART Domains Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648

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 null
Transcript: ENSMUST00000100463
SMART Domains Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648

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 null
Transcript: ENSMUST00000102988
SMART Domains Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648

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 null
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 probably null
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: ENSMUST00000132565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146027
Meta Mutation Damage Score 0.9575 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kansl1l G A 1: 66,840,655 (GRCm39) A215V possibly damaging Het
Kcnk1 T A 8: 126,756,267 (GRCm39) V263D probably damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ncam2 T A 16: 81,262,594 (GRCm39) probably null Het
Ndel1 A G 11: 68,736,163 (GRCm39) Y26H probably damaging Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Prrc2b T A 2: 32,083,869 (GRCm39) S236R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACAGTGCACCTGACTAATGATC -3'
(R):5'- TTGTCTTTCTCATGCTGAAGAATC -3'

Sequencing Primer
(F):5'- GTGCACCTGACTAATGATCTCAGAAC -3'
(R):5'- AATACAGGTACGCAGAGC -3'
Posted On 2015-10-21