Incidental Mutation 'R6960:Dclre1a'
ID 541734
Institutional Source Beutler Lab
Gene Symbol Dclre1a
Ensembl Gene ENSMUSG00000025077
Gene Name DNA cross-link repair 1A
Synonyms 2810043H12Rik, SNM1, SMN1a, mSNM1
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 56517599-56536675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 56531141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 735 (Y735S)
Ref Sequence ENSEMBL: ENSMUSP00000138290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182059] [ENSMUST00000182276] [ENSMUST00000183143]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000182059
Predicted Effect probably damaging
Transcript: ENSMUST00000182276
AA Change: Y735S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: Y735S

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 0.9407 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G 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
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
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'- ATGTCCAGTCTGCCTTAGCC -3'
(R):5'- GCAGATGCAGAAATCATTCTTACC -3'

Sequencing Primer
(F):5'- AGCCATCTTCTCCACTACAATGATGG -3'
(R):5'- CTTTCATTGCAGGGACTG -3'
Posted On 2018-11-28