Incidental Mutation 'R4418:Dclre1c'
ID 326915
Institutional Source Beutler Lab
Gene Symbol Dclre1c
Ensembl Gene ENSMUSG00000026648
Gene Name DNA cross-link repair 1C
Synonyms 9930121L06Rik, Art, Artemis
MMRRC Submission 041139-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R4418 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 3425168-3465167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3453972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 285 (F285S)
Ref Sequence ENSEMBL: ENSMUSP00000110718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027956] [ENSMUST00000060618] [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000102988] [ENSMUST00000115066] [ENSMUST00000127540]
AlphaFold Q8K4J0
Predicted Effect probably benign
Transcript: ENSMUST00000027956
SMART Domains Protein: ENSMUSP00000027956
Gene: ENSMUSG00000026646

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
CHROMO 117 169 2.44e-11 SMART
Pfam:Pre-SET 212 309 4.4e-18 PFAM
SET 317 446 4.05e-41 SMART
PostSET 461 477 7.05e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060618
SMART Domains Protein: ENSMUSP00000054169
Gene: ENSMUSG00000026646

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
SET 70 226 6.61e-23 SMART
PostSET 241 257 7.05e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061852
AA Change: F415S

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: F415S

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: ENSMUST00000100458
SMART Domains Protein: ENSMUSP00000098026
Gene: ENSMUSG00000026646

DomainStartEndE-ValueType
CHROMO 6 67 2e-7 SMART
Pfam:Pre-SET 110 207 1.3e-17 PFAM
SET 215 344 4.05e-41 SMART
PostSET 359 375 7.05e-4 SMART
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000102988
AA Change: F415S

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: F415S

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 possibly damaging
Transcript: ENSMUST00000115066
AA Change: F285S

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: F285S

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: ENSMUST00000152468
Predicted Effect probably benign
Transcript: ENSMUST00000127540
SMART Domains Protein: ENSMUSP00000125485
Gene: ENSMUSG00000026646

DomainStartEndE-ValueType
low complexity region 2 47 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
Meta Mutation Damage Score 0.0794 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,872,372 (GRCm39) noncoding transcript Het
Acot12 A G 13: 91,932,524 (GRCm39) T507A possibly damaging Het
Agap2 T G 10: 126,927,519 (GRCm39) C1113W probably damaging Het
Ap3s1-ps2 A T 8: 95,131,921 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,146,413 (GRCm39) R39G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdcp3 A T 7: 130,849,194 (GRCm39) D899V possibly damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Col6a1 T A 10: 76,554,239 (GRCm39) K323* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dctn2 T G 10: 127,114,234 (GRCm39) M360R probably benign Het
Dele1 T C 18: 38,394,340 (GRCm39) probably null Het
Dgka A T 10: 128,563,963 (GRCm39) L462Q probably damaging Het
Drg2 A C 11: 60,358,972 (GRCm39) K364T probably damaging Het
Dync1li1 T A 9: 114,535,238 (GRCm39) S167R probably damaging Het
Entrep1 T C 19: 23,956,799 (GRCm39) T365A probably benign Het
Fer A T 17: 64,336,286 (GRCm39) D554V possibly damaging Het
Fignl2 A G 15: 100,951,830 (GRCm39) S151P possibly damaging Het
Gbgt1 A G 2: 28,388,420 (GRCm39) Y35C probably damaging Het
Gm6526 T A 14: 43,986,302 (GRCm39) I79K probably damaging Het
Gpr6 T G 10: 40,946,604 (GRCm39) N326T probably damaging Het
H2bc4 C T 13: 23,868,486 (GRCm39) T91M probably damaging Het
Hcn4 C T 9: 58,751,178 (GRCm39) T268M probably benign Het
Hnf4g A G 3: 3,713,154 (GRCm39) M243V possibly damaging Het
Homer1 A G 13: 93,538,577 (GRCm39) E314G probably damaging Het
Hs6st1 T C 1: 36,143,108 (GRCm39) Y348H probably damaging Het
Ifitm6 A T 7: 140,595,984 (GRCm39) I103N probably damaging Het
Ipo5 T G 14: 121,181,305 (GRCm39) C944G possibly damaging Het
Kcnb1 C A 2: 166,947,595 (GRCm39) E418* probably null Het
Kcnk2 G A 1: 188,988,924 (GRCm39) R207C probably damaging Het
Kctd8 T C 5: 69,498,505 (GRCm39) E47G probably damaging Het
Klhdc2 C T 12: 69,354,371 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,509,140 (GRCm39) probably benign Het
Mgat1 A G 11: 49,152,072 (GRCm39) Y185C probably damaging Het
Mmp25 T A 17: 23,863,044 (GRCm39) R122S probably damaging Het
Mrpl39 C A 16: 84,522,012 (GRCm39) probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nek1 T C 8: 61,559,898 (GRCm39) F1007S probably damaging Het
Neto1 T C 18: 86,422,981 (GRCm39) M146T probably benign Het
Opn1sw G A 6: 29,379,423 (GRCm39) R45* probably null Het
Osbpl5 A T 7: 143,263,552 (GRCm39) C98* probably null Het
Pacc1 T A 1: 191,080,629 (GRCm39) V283E probably damaging Het
Pcdhb7 C T 18: 37,476,535 (GRCm39) A557V probably benign Het
Pecam1 A G 11: 106,586,748 (GRCm39) F155L possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pmfbp1 C A 8: 110,257,265 (GRCm39) Q609K probably benign Het
Pnpo A T 11: 96,831,795 (GRCm39) probably null Het
Ppp2cb G A 8: 34,107,077 (GRCm39) R254Q probably benign Het
Qser1 A T 2: 104,619,766 (GRCm39) S349T probably damaging Het
Rnf167 T A 11: 70,538,743 (GRCm39) W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 (GRCm38) noncoding transcript Het
Rxfp2 A T 5: 149,972,265 (GRCm39) H158L probably benign Het
Ryr3 C T 2: 112,661,569 (GRCm39) C1807Y probably damaging Het
Scaper T A 9: 55,745,464 (GRCm39) E601D probably damaging Het
Secisbp2l A T 2: 125,594,835 (GRCm39) C542S probably benign Het
Slc6a19 A G 13: 73,832,514 (GRCm39) V393A possibly damaging Het
Stil A G 4: 114,866,574 (GRCm39) N176S probably benign Het
Tap1 T A 17: 34,407,353 (GRCm39) probably null Het
Tcl1b3 A T 12: 105,159,844 (GRCm39) Q105L probably damaging Het
Trappc10 G T 10: 78,053,022 (GRCm39) A251D probably damaging Het
Trim43a G T 9: 88,464,206 (GRCm39) C39F probably damaging Het
Ttn A T 2: 76,719,825 (GRCm39) probably benign Het
Vmn2r110 A T 17: 20,803,951 (GRCm39) L208* probably null Het
Vmn2r88 G T 14: 51,655,538 (GRCm39) L583F probably damaging Het
Wasf1 C T 10: 40,812,578 (GRCm39) H456Y unknown Het
Zfp120 A G 2: 149,960,105 (GRCm39) I73T possibly damaging Het
Zfp990 T C 4: 145,263,298 (GRCm39) C99R 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCTGTTCTGTGCATGCATG -3'
(R):5'- AGACTTCCCACTGTGGTATGTC -3'

Sequencing Primer
(F):5'- ATGCATGCCTGTTTCATTTGTTC -3'
(R):5'- TGGTATGTCCACATCCGGATCAG -3'
Posted On 2015-07-07