Incidental Mutation 'PIT4377001:Dclre1a'
ID 554960
Institutional Source Beutler Lab
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 # PIT4377001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 56517599-56536675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56532837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 586 (A586T)
Ref Sequence ENSEMBL: ENSMUSP00000138290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071423] [ENSMUST00000182059] [ENSMUST00000182276] [ENSMUST00000183143]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071423
SMART Domains Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 78 174 2.7e-14 PFAM
LY 216 258 8.44e0 SMART
Pfam:NHL 278 304 2.3e-9 PFAM
low complexity region 321 331 N/A INTRINSIC
Blast:LY 402 446 5e-8 BLAST
LY 467 509 1.91e0 SMART
Pfam:NHL 530 558 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182059
Predicted Effect probably benign
Transcript: ENSMUST00000182276
AA Change: A586T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: A586T

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
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bag3 A G 7: 128,147,441 (GRCm39) D352G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cib2 T G 9: 54,467,271 (GRCm39) E11A probably damaging Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gemin7 G A 7: 19,299,242 (GRCm39) R118* probably null Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
H4c12 C G 13: 21,934,654 (GRCm39) G8R unknown Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tert C T 13: 73,776,380 (GRCm39) T377I possibly damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L probably damaging Het
Other mutations in Dclre1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Dclre1a APN 19 56,535,489 (GRCm39) missense probably damaging 1.00
IGL02113:Dclre1a APN 19 56,529,964 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGACCTTCTCTGGCATG -3'
(R):5'- CCTGCAGGAATGCACAGAAG -3'

Sequencing Primer
(F):5'- CCTTCCCGTGGTGAATTTGACG -3'
(R):5'- AGAAGCGCTCTAGCATGC -3'
Posted On 2019-06-07