Incidental Mutation 'IGL03181:Recql'
ID 412265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql
Ensembl Gene ENSMUSG00000030243
Gene Name RecQ protein-like
Synonyms RecQ1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # IGL03181
Quality Score
Status
Chromosome 6
Chromosomal Location 142296068-142332802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142323918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 59 (S59G)
Ref Sequence ENSEMBL: ENSMUSP00000145179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000100832] [ENSMUST00000111803] [ENSMUST00000128082] [ENSMUST00000129694] [ENSMUST00000203772]
AlphaFold Q9Z129
Predicted Effect probably benign
Transcript: ENSMUST00000032370
AA Change: S59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243
AA Change: S59G

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: ENSMUST00000100832
AA Change: S59G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243
AA Change: S59G

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 benign
Transcript: ENSMUST00000111803
AA Change: S59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243
AA Change: S59G

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: ENSMUST00000128082
AA Change: S59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120951
Gene: ENSMUSG00000030243
AA Change: S59G

DomainStartEndE-ValueType
Blast:DEXDc 24 84 4e-16 BLAST
PDB:2WWY|B 63 85 9e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000129694
AA Change: S59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122328
Gene: ENSMUSG00000030243
AA Change: S59G

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
Pfam:DEAD 93 166 6.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203772
AA Change: S59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145179
Gene: ENSMUSG00000030243
AA Change: S59G

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
Pfam:DEAD 93 166 8.5e-12 PFAM
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging 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
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
R5781:Recql UTSW 6 142,311,344 (GRCm39) splice site probably null
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
Posted On 2016-08-02