Incidental Mutation 'R5993:Dclre1a'
ID 480974
Institutional Source Beutler Lab
Gene Symbol Dclre1a
Ensembl Gene ENSMUSG00000025077
Gene Name DNA cross-link repair 1A
Synonyms 2810043H12Rik, SNM1, SMN1a, mSNM1
MMRRC Submission 044172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5993 (G1)
Quality Score 194.009
Status Not validated
Chromosome 19
Chromosomal Location 56517599-56536675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 56531169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 726 (Y726D)
Ref Sequence ENSEMBL: ENSMUSP00000138290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182059] [ENSMUST00000182276] [ENSMUST00000183143]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182058
Predicted Effect probably benign
Transcript: ENSMUST00000182059
Predicted Effect probably damaging
Transcript: ENSMUST00000182276
AA Change: Y726D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: Y726D

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,236,604 (GRCm39) N805K probably damaging Het
Add1 A C 5: 34,758,877 (GRCm39) S64R probably damaging Het
Alas1 A G 9: 106,111,328 (GRCm39) F613L probably benign Het
Ankrd17 A T 5: 90,487,531 (GRCm39) probably benign Het
Anks3 C T 16: 4,776,001 (GRCm39) G67D probably damaging Het
Aspm C T 1: 139,407,269 (GRCm39) T2052I probably benign Het
Atp8b4 C T 2: 126,245,154 (GRCm39) V332I probably benign Het
Bin2 CGGAGCTGA C 15: 100,542,901 (GRCm39) probably null Het
Bpifb3 T A 2: 153,771,234 (GRCm39) M382K probably benign Het
Ccdc149 C T 5: 52,560,117 (GRCm39) R246Q probably damaging Het
Ccdc57 T C 11: 120,785,550 (GRCm39) K462E possibly damaging Het
Cux1 T C 5: 136,392,125 (GRCm39) T9A probably benign Het
Cyp2c23 A G 19: 44,000,799 (GRCm39) Y362H probably damaging Het
D430041D05Rik A G 2: 103,998,412 (GRCm39) I998T probably damaging Het
Dnah5 T C 15: 28,299,372 (GRCm39) V1578A probably benign Het
Dppa4 C T 16: 48,109,709 (GRCm39) R110* probably null Het
Drc7 T A 8: 95,800,820 (GRCm39) V614E probably benign Het
Garin2 C A 12: 78,762,210 (GRCm39) N12K probably damaging Het
Gcc1 G A 6: 28,424,851 (GRCm39) probably null Het
Greb1l G A 18: 10,544,455 (GRCm39) D1350N probably benign Het
Kcnc1 G A 7: 46,076,956 (GRCm39) V253M probably damaging Het
Krt78 T A 15: 101,858,884 (GRCm39) I323F probably damaging Het
Man2b2 A G 5: 36,978,324 (GRCm39) V320A probably benign Het
Mphosph9 A T 5: 124,454,161 (GRCm39) F112Y probably benign Het
Mrc1 A G 2: 14,310,138 (GRCm39) T800A probably damaging Het
Mroh1 C A 15: 76,330,880 (GRCm39) A1197E probably damaging Het
Nlrp10 A T 7: 108,526,220 (GRCm39) H39Q probably benign Het
Nop2 C T 6: 125,120,982 (GRCm39) T588I probably benign Het
Oxld1 A G 11: 120,347,835 (GRCm39) S121P probably benign Het
Pakap A G 4: 57,855,273 (GRCm39) K444E possibly damaging Het
Prox1 T A 1: 189,894,436 (GRCm39) D3V probably damaging Het
Ptk7 T C 17: 46,876,296 (GRCm39) T1052A probably benign Het
Rhot2 T A 17: 26,060,085 (GRCm39) T299S probably benign Het
Rhov A G 2: 119,100,533 (GRCm39) F235L probably damaging Het
Runx1t1 A T 4: 13,841,863 (GRCm39) R158S probably damaging Het
Runx1t1 A T 4: 13,875,490 (GRCm39) E431D probably benign Het
Sema3e A G 5: 14,274,307 (GRCm39) E186G probably damaging Het
Sema5b T A 16: 35,466,572 (GRCm39) L158H probably damaging Het
Serpina3j A G 12: 104,280,946 (GRCm39) T40A probably benign Het
Shroom3 A T 5: 93,088,047 (GRCm39) S185C probably damaging Het
Skint6 A T 4: 112,666,276 (GRCm39) V1183D probably benign Het
Smg1 A G 7: 117,739,732 (GRCm39) V3405A probably benign Het
Supt16 C A 14: 52,415,791 (GRCm39) R357L probably damaging Het
Thrap3 A T 4: 126,069,253 (GRCm39) probably null Het
Topaz1 T C 9: 122,578,104 (GRCm39) L338S probably benign Het
Ttll3 T A 6: 113,374,992 (GRCm39) Y139* probably null Het
Ttn T G 2: 76,626,251 (GRCm39) D6641A probably damaging Het
Wwc1 T C 11: 35,743,163 (GRCm39) D886G probably benign Het
Zc3h7a T A 16: 10,968,526 (GRCm39) K484N 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
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
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'- TCTTCTCCACTACAATGATGGC -3'
(R):5'- AGCCTCTTCCCTGGAATATTTAGC -3'

Sequencing Primer
(F):5'- CCACTACAATGATGGCTCTTTTAG -3'
(R):5'- CTCACCCCAATGTGTGG -3'
Posted On 2017-06-26