Incidental Mutation 'R5781:Recql'
ID 447729
Institutional Source Beutler Lab
Gene Symbol Recql
Ensembl Gene ENSMUSG00000030243
Gene Name RecQ protein-like
Synonyms RecQ1
MMRRC Submission 043378-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R5781 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142296068-142332802 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 142311344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852] [ENSMUST00000100832] [ENSMUST00000111803]
AlphaFold Q9Z129
Predicted Effect probably null
Transcript: ENSMUST00000032370
SMART Domains Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
DEXDc 88 291 2.5e-27 SMART
HELICc 328 409 2.2e-26 SMART
Pfam:RQC 488 592 5.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041852
SMART Domains Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 8 234 2.2e-18 PFAM
Pfam:Pyr_redox_2 266 381 4e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100832
SMART Domains Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
DEXDc 88 291 6e-25 SMART
HELICc 328 409 5.51e-24 SMART
Pfam:RQC 488 592 1.1e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111803
SMART Domains Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
DEXDc 88 291 6e-25 SMART
HELICc 328 409 5.51e-24 SMART
Pfam:RecQ_Zn_bind 420 479 2.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137098
Predicted Effect probably null
Transcript: ENSMUST00000141504
SMART Domains Protein: ENSMUSP00000119452
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
Pfam:RecQ_Zn_bind 10 69 7.1e-16 PFAM
Pfam:RQC 73 187 2.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143102
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutation of this gene results in chromosomal instability, with embryonic fibroblasts exhibiting aneuploidy, spontaneous chromosomal breakage, frequent translocation events, increased sensitivity to ionizing radiation, and increased frequency of sister chromatid exchange. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,992,813 (GRCm39) L1617P probably damaging Het
Abhd16b T C 2: 181,135,947 (GRCm39) V283A probably damaging Het
Adamts19 G T 18: 58,971,040 (GRCm39) R208L possibly damaging Het
Adamts4 T C 1: 171,078,584 (GRCm39) I56T possibly damaging Het
Alpk1 A C 3: 127,473,684 (GRCm39) V773G possibly damaging Het
Arhgap10 G T 8: 78,177,336 (GRCm39) Q100K possibly damaging Het
Arhgef18 T A 8: 3,489,439 (GRCm39) probably null Het
Asb15 A T 6: 24,564,377 (GRCm39) H277L probably benign Het
Ascc3 T A 10: 50,514,074 (GRCm39) V291E probably damaging Het
Cnot6l A C 5: 96,234,024 (GRCm39) V329G probably benign Het
Col14a1 A G 15: 55,286,908 (GRCm39) T910A unknown Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dsc2 A G 18: 20,165,567 (GRCm39) I846T probably benign Het
Evc A T 5: 37,483,914 (GRCm39) S129T probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fyco1 A G 9: 123,623,898 (GRCm39) V1377A probably damaging Het
Haus6 C T 4: 86,519,500 (GRCm39) A203T possibly damaging Het
Hkdc1 T G 10: 62,253,712 (GRCm39) D23A probably damaging Het
Hpdl C T 4: 116,677,775 (GRCm39) V229M probably damaging Het
Hspa12a T C 19: 58,810,518 (GRCm39) Y175C probably damaging Het
Hyal1 C T 9: 107,454,866 (GRCm39) P59S probably damaging Het
Itpr1 G A 6: 108,487,699 (GRCm39) C2374Y probably benign Het
Kmt2a A T 9: 44,759,139 (GRCm39) Y114* probably null Het
Mc2r A T 18: 68,540,468 (GRCm39) I275K probably damaging Het
Mc2r A T 18: 68,540,466 (GRCm39) Y276N possibly damaging Het
Mlycd A G 8: 120,137,019 (GRCm39) Y413C probably damaging Het
Mocs2 T G 13: 114,957,455 (GRCm39) S86R probably damaging Het
Msx2 C A 13: 53,626,644 (GRCm39) A35S probably benign Het
Or6c201 A T 10: 128,969,016 (GRCm39) L207H probably damaging Het
Pla2g4f C A 2: 120,135,504 (GRCm39) S390I probably damaging Het
Plcl1 C T 1: 55,735,148 (GRCm39) A163V possibly damaging Het
Pnn T C 12: 59,118,605 (GRCm39) V396A probably damaging Het
Rbmxl1 G A 8: 79,232,270 (GRCm39) probably benign Het
Rev3l T A 10: 39,699,089 (GRCm39) N1195K probably benign Het
Rfwd3 G A 8: 111,999,716 (GRCm39) T754M probably benign Het
Sctr A G 1: 119,959,350 (GRCm39) T98A probably damaging Het
Sdk1 T A 5: 141,921,803 (GRCm39) D6E probably benign Het
Smpdl3a T A 10: 57,684,034 (GRCm39) I264K possibly damaging Het
Spag6 A G 2: 18,736,804 (GRCm39) I154V probably benign Het
Tbc1d12 A C 19: 38,871,127 (GRCm39) T297P probably benign Het
Tgfb1 A G 7: 25,396,385 (GRCm39) D226G probably benign Het
Ubr3 G T 2: 69,846,588 (GRCm39) probably null Het
Ubr4 T C 4: 139,195,407 (GRCm39) Y1210H probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Vmn2r120 T G 17: 57,831,938 (GRCm39) T284P probably benign Het
Vps13b G T 15: 35,794,181 (GRCm39) A2286S probably damaging Het
Zcchc14 A T 8: 122,331,332 (GRCm39) probably benign Het
Zfr2 T A 10: 81,079,547 (GRCm39) V362E probably benign Het
Other mutations in Recql
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Recql APN 6 142,322,647 (GRCm39) missense probably null 0.34
IGL01933:Recql APN 6 142,310,364 (GRCm39) missense probably benign 0.33
IGL02026:Recql APN 6 142,312,394 (GRCm39) nonsense probably null
IGL03181:Recql APN 6 142,323,918 (GRCm39) missense probably benign 0.00
K3955:Recql UTSW 6 142,323,932 (GRCm39) nonsense probably null
R0380:Recql UTSW 6 142,315,156 (GRCm39) missense probably damaging 1.00
R1371:Recql UTSW 6 142,318,601 (GRCm39) missense probably damaging 0.99
R1742:Recql UTSW 6 142,310,298 (GRCm39) missense probably damaging 1.00
R1780:Recql UTSW 6 142,310,324 (GRCm39) missense probably benign 0.00
R1921:Recql UTSW 6 142,311,315 (GRCm39) missense probably benign 0.41
R2032:Recql UTSW 6 142,313,009 (GRCm39) missense probably damaging 1.00
R2966:Recql UTSW 6 142,309,313 (GRCm39) missense probably benign 0.10
R4666:Recql UTSW 6 142,322,567 (GRCm39) missense probably damaging 1.00
R4779:Recql UTSW 6 142,309,426 (GRCm39) intron probably benign
R4863:Recql UTSW 6 142,304,732 (GRCm39) utr 3 prime probably benign
R5115:Recql UTSW 6 142,304,285 (GRCm39) utr 3 prime probably benign
R5400:Recql UTSW 6 142,308,073 (GRCm39) intron probably benign
R5981:Recql UTSW 6 142,318,604 (GRCm39) missense probably damaging 1.00
R6372:Recql UTSW 6 142,322,566 (GRCm39) missense probably damaging 1.00
R6651:Recql UTSW 6 142,310,160 (GRCm39) critical splice donor site probably null
R6786:Recql UTSW 6 142,310,278 (GRCm39) missense probably benign 0.43
R7399:Recql UTSW 6 142,320,610 (GRCm39) missense probably damaging 1.00
R7515:Recql UTSW 6 142,320,611 (GRCm39) missense probably damaging 1.00
R8097:Recql UTSW 6 142,320,637 (GRCm39) missense probably damaging 1.00
R8817:Recql UTSW 6 142,304,612 (GRCm39) utr 3 prime probably benign
R8873:Recql UTSW 6 142,308,013 (GRCm39) missense
R9103:Recql UTSW 6 142,322,515 (GRCm39) missense possibly damaging 0.82
R9454:Recql UTSW 6 142,320,617 (GRCm39) missense possibly damaging 0.83
R9683:Recql UTSW 6 142,305,646 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGTCTAACCTTCCCACATGAAG -3'
(R):5'- TTGTTGAGAGATGACTGAGCTC -3'

Sequencing Primer
(F):5'- GAAGTCCTCACTGCATTTAGCC -3'
(R):5'- TCACAGTTGACAGCTCTGAG -3'
Posted On 2016-12-15