Incidental Mutation 'R4373:Dclre1a'
ID 326089
Institutional Source Beutler Lab
Gene Symbol Dclre1a
Ensembl Gene ENSMUSG00000025077
Gene Name DNA cross-link repair 1A
Synonyms 2810043H12Rik, SNM1, SMN1a, mSNM1
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56517599-56536675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56533874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 240 (L240S)
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 noncoding transcript
Transcript: ENSMUST00000181992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182058
Predicted Effect probably benign
Transcript: ENSMUST00000182059
Predicted Effect probably benign
Transcript: ENSMUST00000182276
AA Change: L240S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: L240S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P 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
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'- TGGCTGTTTAATGCAACCTCAG -3'
(R):5'- AATGTCCCGAGGGTTTGCTATG -3'

Sequencing Primer
(F):5'- CTGTTTAATGCAACCTCAGCAAGAG -3'
(R):5'- CGAGGGTTTGCTATGTACTTCCAC -3'
Posted On 2015-07-06