Incidental Mutation 'IGL02131:Recql5'
ID 281183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql5
Ensembl Gene ENSMUSG00000020752
Gene Name RecQ protein-like 5
Synonyms Recql5b, Recq5b
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # IGL02131
Quality Score
Status
Chromosome 11
Chromosomal Location 115783421-115824303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115814068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 86 (W86L)
Ref Sequence ENSEMBL: ENSMUSP00000136178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000131578] [ENSMUST00000134208] [ENSMUST00000140174]
AlphaFold Q8VID5
Predicted Effect probably benign
Transcript: ENSMUST00000021097
AA Change: W359L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: W359L

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
HELICc 274 355 8.68e-22 SMART
Pfam:RecQ_Zn_bind 366 436 1.8e-12 PFAM
low complexity region 472 499 N/A INTRINSIC
PDB:4BK0|B 516 621 2e-51 PDB
Pfam:RecQ5 626 818 3.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131578
AA Change: W86L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: W86L

DomainStartEndE-ValueType
HELICc 1 82 8.68e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134208
AA Change: W245L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: W245L

DomainStartEndE-ValueType
Blast:DEXDc 25 96 4e-34 BLAST
HELICc 160 241 8.68e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134391
Predicted Effect probably benign
Transcript: ENSMUST00000140174
SMART Domains Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156776
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 helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,935,084 (GRCm39) probably benign Het
Adamts19 A G 18: 59,185,732 (GRCm39) Y1202C probably damaging Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Anxa8 A T 14: 33,812,588 (GRCm39) D46V possibly damaging Het
Ap4e1 A G 2: 126,903,849 (GRCm39) Y917C probably benign Het
Arhgap40 G A 2: 158,373,859 (GRCm39) probably null Het
Dnah17 A G 11: 117,963,734 (GRCm39) V2513A probably damaging Het
Dnhd1 T C 7: 105,370,009 (GRCm39) L4478P probably damaging Het
Dtx3 T C 10: 127,029,148 (GRCm39) D30G probably damaging Het
Fat2 A G 11: 55,199,868 (GRCm39) Y1069H probably damaging Het
Fbxo21 T A 5: 118,140,155 (GRCm39) N538K possibly damaging Het
Frem1 T C 4: 82,843,091 (GRCm39) T1748A probably benign Het
Kcnh6 T C 11: 105,911,001 (GRCm39) Y466H probably damaging Het
Kif2c G A 4: 117,035,150 (GRCm39) S41L possibly damaging Het
Kir3dl2 T A X: 135,358,462 (GRCm39) H52L possibly damaging Het
Mageb18 A G X: 91,163,655 (GRCm39) C196R possibly damaging Het
Mrpl9 T A 3: 94,352,020 (GRCm39) probably null Het
Nt5c1b A G 12: 10,425,491 (GRCm39) I345V possibly damaging Het
Or10a49 T C 7: 108,467,415 (GRCm39) *315W probably null Het
Or2j3 T A 17: 38,615,539 (GRCm39) H271L probably benign Het
Or8c11 A G 9: 38,289,203 (GRCm39) T9A probably benign Het
Parp8 T C 13: 117,047,409 (GRCm39) N221S probably benign Het
Plbd1 T C 6: 136,638,681 (GRCm39) probably benign Het
Rgs6 T C 12: 83,116,269 (GRCm39) S232P probably damaging Het
Rnf182 A G 13: 43,821,818 (GRCm39) H123R probably benign Het
Rtf2 A G 2: 172,308,212 (GRCm39) T204A unknown Het
Sema4d T C 13: 51,856,973 (GRCm39) probably null Het
Septin8 T C 11: 53,428,684 (GRCm39) S408P possibly damaging Het
Serpini1 A G 3: 75,548,011 (GRCm39) N396D probably benign Het
Slc26a2 A C 18: 61,331,884 (GRCm39) F516V possibly damaging Het
Tcf4 A G 18: 69,697,697 (GRCm39) probably benign Het
Trrap G T 5: 144,777,246 (GRCm39) G3045W probably damaging Het
Tspo2 T A 17: 48,756,089 (GRCm39) T91S possibly damaging Het
Ttn T C 2: 76,567,958 (GRCm39) D27645G probably damaging Het
Uba6 G T 5: 86,297,936 (GRCm39) T246K probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wwp2 T A 8: 108,278,950 (GRCm39) M136K probably damaging Het
Zranb3 A T 1: 127,920,688 (GRCm39) V412D probably damaging Het
Other mutations in Recql5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Recql5 APN 11 115,788,007 (GRCm39) missense probably benign 0.04
IGL01589:Recql5 APN 11 115,785,495 (GRCm39) missense probably damaging 1.00
IGL02040:Recql5 APN 11 115,823,623 (GRCm39) missense possibly damaging 0.89
IGL02198:Recql5 APN 11 115,785,499 (GRCm39) missense probably benign 0.00
IGL02236:Recql5 APN 11 115,784,856 (GRCm39) missense probably benign 0.01
IGL02501:Recql5 APN 11 115,785,917 (GRCm39) missense probably benign 0.26
IGL02980:Recql5 APN 11 115,784,770 (GRCm39) splice site probably null
IGL03028:Recql5 APN 11 115,785,257 (GRCm39) missense possibly damaging 0.94
PIT4581001:Recql5 UTSW 11 115,823,682 (GRCm39) missense possibly damaging 0.53
R0152:Recql5 UTSW 11 115,785,499 (GRCm39) missense probably benign
R0269:Recql5 UTSW 11 115,819,050 (GRCm39) missense possibly damaging 0.91
R0317:Recql5 UTSW 11 115,785,499 (GRCm39) missense probably benign
R0511:Recql5 UTSW 11 115,819,209 (GRCm39) missense probably benign 0.00
R0786:Recql5 UTSW 11 115,786,628 (GRCm39) missense probably benign
R0975:Recql5 UTSW 11 115,814,082 (GRCm39) missense probably damaging 1.00
R1170:Recql5 UTSW 11 115,788,060 (GRCm39) missense probably damaging 0.98
R1208:Recql5 UTSW 11 115,783,982 (GRCm39) missense probably damaging 0.98
R1208:Recql5 UTSW 11 115,783,982 (GRCm39) missense probably damaging 0.98
R1807:Recql5 UTSW 11 115,785,941 (GRCm39) missense possibly damaging 0.63
R1872:Recql5 UTSW 11 115,814,135 (GRCm39) missense probably benign 0.15
R1878:Recql5 UTSW 11 115,785,927 (GRCm39) missense probably benign 0.00
R1935:Recql5 UTSW 11 115,788,017 (GRCm39) missense probably benign 0.00
R1936:Recql5 UTSW 11 115,788,017 (GRCm39) missense probably benign 0.00
R1945:Recql5 UTSW 11 115,819,123 (GRCm39) nonsense probably null
R2011:Recql5 UTSW 11 115,787,923 (GRCm39) missense probably benign 0.20
R2012:Recql5 UTSW 11 115,787,923 (GRCm39) missense probably benign 0.20
R2023:Recql5 UTSW 11 115,784,466 (GRCm39) missense probably benign
R2183:Recql5 UTSW 11 115,787,613 (GRCm39) missense probably benign 0.00
R3881:Recql5 UTSW 11 115,784,781 (GRCm39) missense probably benign 0.00
R3881:Recql5 UTSW 11 115,784,780 (GRCm39) missense probably benign
R4093:Recql5 UTSW 11 115,795,714 (GRCm39) missense probably benign 0.05
R4857:Recql5 UTSW 11 115,819,038 (GRCm39) missense probably damaging 1.00
R5245:Recql5 UTSW 11 115,784,385 (GRCm39) missense probably damaging 1.00
R5323:Recql5 UTSW 11 115,818,215 (GRCm39) missense probably damaging 1.00
R5796:Recql5 UTSW 11 115,818,691 (GRCm39) intron probably benign
R6160:Recql5 UTSW 11 115,823,613 (GRCm39) critical splice donor site probably null
R6229:Recql5 UTSW 11 115,821,540 (GRCm39) missense probably damaging 0.96
R6824:Recql5 UTSW 11 115,814,038 (GRCm39) missense possibly damaging 0.83
R7013:Recql5 UTSW 11 115,785,402 (GRCm39) missense probably benign 0.02
R7043:Recql5 UTSW 11 115,821,502 (GRCm39) critical splice donor site probably null
R7135:Recql5 UTSW 11 115,821,498 (GRCm39) splice site probably null
R7354:Recql5 UTSW 11 115,819,027 (GRCm39) missense probably damaging 1.00
R7373:Recql5 UTSW 11 115,819,198 (GRCm39) missense possibly damaging 0.92
R7503:Recql5 UTSW 11 115,785,881 (GRCm39) missense probably benign 0.00
R7574:Recql5 UTSW 11 115,819,248 (GRCm39) missense probably benign
R7597:Recql5 UTSW 11 115,819,207 (GRCm39) missense probably benign 0.03
R7658:Recql5 UTSW 11 115,814,102 (GRCm39) missense probably damaging 1.00
R8025:Recql5 UTSW 11 115,818,938 (GRCm39) missense probably damaging 1.00
R8038:Recql5 UTSW 11 115,818,178 (GRCm39) missense possibly damaging 0.90
R8316:Recql5 UTSW 11 115,784,861 (GRCm39) missense possibly damaging 0.46
R8463:Recql5 UTSW 11 115,787,619 (GRCm39) nonsense probably null
R8770:Recql5 UTSW 11 115,787,943 (GRCm39) missense probably benign 0.00
R8788:Recql5 UTSW 11 115,786,628 (GRCm39) missense probably benign
R9083:Recql5 UTSW 11 115,785,475 (GRCm39) missense possibly damaging 0.46
R9653:Recql5 UTSW 11 115,788,032 (GRCm39) missense probably benign 0.01
R9711:Recql5 UTSW 11 115,784,367 (GRCm39) missense probably damaging 1.00
X0026:Recql5 UTSW 11 115,814,087 (GRCm39) missense probably damaging 1.00
X0028:Recql5 UTSW 11 115,785,432 (GRCm39) missense probably benign
Posted On 2015-04-16