Incidental Mutation 'IGL02113:Dclre1a'
ID 280254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dclre1a
Ensembl Gene ENSMUSG00000025077
Gene Name DNA cross-link repair 1A
Synonyms 2810043H12Rik, SNM1, SMN1a, mSNM1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02113
Quality Score
Status
Chromosome 19
Chromosomal Location 56517599-56536675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56529964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 791 (V791A)
Ref Sequence ENSEMBL: ENSMUSP00000138290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182276] [ENSMUST00000183143]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182058
Predicted Effect probably damaging
Transcript: ENSMUST00000182276
AA Change: V791A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: V791A

DomainStartEndE-ValueType
low complexity region 90 110 N/A INTRINSIC
low complexity region 211 220 N/A INTRINSIC
low complexity region 546 560 N/A INTRINSIC
Lactamase_B 705 853 7.86e-1 SMART
Pfam:DRMBL 921 1027 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183143
SMART Domains Protein: ENSMUSP00000138537
Gene: ENSMUSG00000025077

DomainStartEndE-ValueType
low complexity region 90 110 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183216
Meta Mutation Damage Score 0.2483 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging Het
Other mutations in Dclre1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Dclre1a APN 19 56,535,489 (GRCm39) missense probably damaging 1.00
IGL02264:Dclre1a APN 19 56,532,725 (GRCm39) missense possibly damaging 0.93
IGL03303:Dclre1a APN 19 56,535,198 (GRCm39) missense possibly damaging 0.85
Gof UTSW 19 56,531,141 (GRCm39) missense probably damaging 1.00
Hoopla UTSW 19 56,535,067 (GRCm39) critical splice donor site probably null
FR4589:Dclre1a UTSW 19 56,532,555 (GRCm39) utr 3 prime probably benign
PIT4377001:Dclre1a UTSW 19 56,532,837 (GRCm39) missense probably benign 0.05
R0081:Dclre1a UTSW 19 56,531,139 (GRCm39) missense probably damaging 1.00
R0355:Dclre1a UTSW 19 56,535,067 (GRCm39) critical splice donor site probably null
R0422:Dclre1a UTSW 19 56,532,567 (GRCm39) nonsense probably null
R0486:Dclre1a UTSW 19 56,529,922 (GRCm39) splice site probably benign
R0619:Dclre1a UTSW 19 56,533,841 (GRCm39) missense probably benign 0.00
R0639:Dclre1a UTSW 19 56,526,872 (GRCm39) missense probably damaging 1.00
R1221:Dclre1a UTSW 19 56,519,700 (GRCm39) missense possibly damaging 0.69
R1352:Dclre1a UTSW 19 56,533,595 (GRCm39) missense probably damaging 1.00
R1824:Dclre1a UTSW 19 56,535,150 (GRCm39) splice site probably null
R1833:Dclre1a UTSW 19 56,529,932 (GRCm39) splice site probably null
R3851:Dclre1a UTSW 19 56,529,939 (GRCm39) missense probably damaging 1.00
R3889:Dclre1a UTSW 19 56,533,752 (GRCm39) missense probably benign 0.00
R4373:Dclre1a UTSW 19 56,533,874 (GRCm39) missense probably benign 0.04
R5277:Dclre1a UTSW 19 56,533,164 (GRCm39) missense possibly damaging 0.78
R5747:Dclre1a UTSW 19 56,529,964 (GRCm39) missense probably damaging 0.98
R5792:Dclre1a UTSW 19 56,518,022 (GRCm39) missense probably damaging 1.00
R5892:Dclre1a UTSW 19 56,535,572 (GRCm39) missense probably benign 0.29
R5993:Dclre1a UTSW 19 56,531,169 (GRCm39) missense probably damaging 1.00
R6368:Dclre1a UTSW 19 56,535,223 (GRCm39) missense probably benign 0.02
R6706:Dclre1a UTSW 19 56,533,501 (GRCm39) missense probably benign 0.11
R6944:Dclre1a UTSW 19 56,533,451 (GRCm39) missense possibly damaging 0.90
R6960:Dclre1a UTSW 19 56,531,141 (GRCm39) missense probably damaging 1.00
R7023:Dclre1a UTSW 19 56,528,638 (GRCm39) missense probably damaging 0.99
R7213:Dclre1a UTSW 19 56,518,067 (GRCm39) missense probably damaging 1.00
R7355:Dclre1a UTSW 19 56,535,567 (GRCm39) missense possibly damaging 0.53
R7413:Dclre1a UTSW 19 56,531,082 (GRCm39) missense probably damaging 1.00
R7577:Dclre1a UTSW 19 56,517,965 (GRCm39) missense probably damaging 1.00
R7840:Dclre1a UTSW 19 56,519,684 (GRCm39) missense probably damaging 1.00
R8270:Dclre1a UTSW 19 56,533,382 (GRCm39) missense possibly damaging 0.61
R8303:Dclre1a UTSW 19 56,531,121 (GRCm39) missense probably damaging 1.00
R8986:Dclre1a UTSW 19 56,526,826 (GRCm39) missense
R9101:Dclre1a UTSW 19 56,532,738 (GRCm39) missense possibly damaging 0.46
R9141:Dclre1a UTSW 19 56,533,542 (GRCm39) missense probably damaging 0.98
R9165:Dclre1a UTSW 19 56,526,801 (GRCm39) missense probably damaging 0.97
R9321:Dclre1a UTSW 19 56,531,100 (GRCm39) missense probably damaging 1.00
R9578:Dclre1a UTSW 19 56,528,734 (GRCm39) missense probably damaging 0.99
RF031:Dclre1a UTSW 19 56,532,564 (GRCm39) utr 3 prime probably benign
RF046:Dclre1a UTSW 19 56,532,564 (GRCm39) utr 3 prime probably benign
Posted On 2015-04-16