Incidental Mutation 'IGL02131:Recql5'
ID281183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql5
Ensembl Gene ENSMUSG00000020752
Gene NameRecQ protein-like 5
SynonymsRecq5b, Recql5b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.420) question?
Stock #IGL02131
Quality Score
Status
Chromosome11
Chromosomal Location115892595-115933477 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 115923242 bp
ZygosityHeterozygous
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]
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: 79,627,655 probably benign Het
Adamts19 A G 18: 59,052,660 Y1202C probably damaging Het
Adgrf1 T A 17: 43,303,747 F241I probably damaging Het
Ankrd11 A T 8: 122,894,410 I901N probably damaging Het
Anxa8 A T 14: 34,090,631 D46V possibly damaging Het
Ap4e1 A G 2: 127,061,929 Y917C probably benign Het
Arhgap40 G A 2: 158,531,939 probably null Het
Dnah17 A G 11: 118,072,908 V2513A probably damaging Het
Dnhd1 T C 7: 105,720,802 L4478P probably damaging Het
Dtx3 T C 10: 127,193,279 D30G probably damaging Het
Fat2 A G 11: 55,309,042 Y1069H probably damaging Het
Fbxo21 T A 5: 118,002,090 N538K possibly damaging Het
Frem1 T C 4: 82,924,854 T1748A probably benign Het
Kcnh6 T C 11: 106,020,175 Y466H probably damaging Het
Kif2c G A 4: 117,177,953 S41L possibly damaging Het
Kir3dl2 T A X: 136,457,713 H52L possibly damaging Het
Mageb18 A G X: 92,120,049 C196R possibly damaging Het
Mrpl9 T A 3: 94,444,713 probably null Het
Nt5c1b A G 12: 10,375,491 I345V possibly damaging Het
Olfr137 T A 17: 38,304,648 H271L probably benign Het
Olfr251 A G 9: 38,377,907 T9A probably benign Het
Olfr517 T C 7: 108,868,208 *315W probably null Het
Parp8 T C 13: 116,910,873 N221S probably benign Het
Plbd1 T C 6: 136,661,683 probably benign Het
Rgs6 T C 12: 83,069,495 S232P probably damaging Het
Rnf182 A G 13: 43,668,342 H123R probably benign Het
Rtf2 A G 2: 172,466,292 T204A unknown Het
Sema4d T C 13: 51,702,937 probably null Het
Sept8 T C 11: 53,537,857 S408P possibly damaging Het
Serpini1 A G 3: 75,640,704 N396D probably benign Het
Slc26a2 A C 18: 61,198,812 F516V possibly damaging Het
Tcf4 A G 18: 69,564,626 probably benign Het
Trrap G T 5: 144,840,436 G3045W probably damaging Het
Tspo2 T A 17: 48,449,061 T91S possibly damaging Het
Ttn T C 2: 76,737,614 D27645G probably damaging Het
Uba6 G T 5: 86,150,077 T246K probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wwp2 T A 8: 107,552,318 M136K probably damaging Het
Zranb3 A T 1: 127,992,951 V412D probably damaging Het
Other mutations in Recql5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Recql5 APN 11 115897181 missense probably benign 0.04
IGL01589:Recql5 APN 11 115894669 missense probably damaging 1.00
IGL02040:Recql5 APN 11 115932797 missense possibly damaging 0.89
IGL02198:Recql5 APN 11 115894673 missense probably benign 0.00
IGL02236:Recql5 APN 11 115894030 missense probably benign 0.01
IGL02501:Recql5 APN 11 115895091 missense probably benign 0.26
IGL02980:Recql5 APN 11 115893944 splice site probably null
IGL03028:Recql5 APN 11 115894431 missense possibly damaging 0.94
PIT4581001:Recql5 UTSW 11 115932856 missense possibly damaging 0.53
R0152:Recql5 UTSW 11 115894673 missense probably benign
R0269:Recql5 UTSW 11 115928224 missense possibly damaging 0.91
R0317:Recql5 UTSW 11 115894673 missense probably benign
R0511:Recql5 UTSW 11 115928383 missense probably benign 0.00
R0786:Recql5 UTSW 11 115895802 missense probably benign
R0975:Recql5 UTSW 11 115923256 missense probably damaging 1.00
R1170:Recql5 UTSW 11 115897234 missense probably damaging 0.98
R1208:Recql5 UTSW 11 115893156 missense probably damaging 0.98
R1208:Recql5 UTSW 11 115893156 missense probably damaging 0.98
R1807:Recql5 UTSW 11 115895115 missense possibly damaging 0.63
R1872:Recql5 UTSW 11 115923309 missense probably benign 0.15
R1878:Recql5 UTSW 11 115895101 missense probably benign 0.00
R1935:Recql5 UTSW 11 115897191 missense probably benign 0.00
R1936:Recql5 UTSW 11 115897191 missense probably benign 0.00
R1945:Recql5 UTSW 11 115928297 nonsense probably null
R2011:Recql5 UTSW 11 115897097 missense probably benign 0.20
R2012:Recql5 UTSW 11 115897097 missense probably benign 0.20
R2023:Recql5 UTSW 11 115893640 missense probably benign
R2183:Recql5 UTSW 11 115896787 missense probably benign 0.00
R3881:Recql5 UTSW 11 115893954 missense probably benign
R3881:Recql5 UTSW 11 115893955 missense probably benign 0.00
R4093:Recql5 UTSW 11 115904888 missense probably benign 0.05
R4857:Recql5 UTSW 11 115928212 missense probably damaging 1.00
R5245:Recql5 UTSW 11 115893559 missense probably damaging 1.00
R5323:Recql5 UTSW 11 115927389 missense probably damaging 1.00
R5796:Recql5 UTSW 11 115927865 intron probably benign
R6160:Recql5 UTSW 11 115932787 critical splice donor site probably null
R6229:Recql5 UTSW 11 115930714 missense probably damaging 0.96
R6824:Recql5 UTSW 11 115923212 missense possibly damaging 0.83
R7013:Recql5 UTSW 11 115894576 missense probably benign 0.02
R7043:Recql5 UTSW 11 115930676 critical splice donor site probably null
R7135:Recql5 UTSW 11 115930672 splice site probably null
R7354:Recql5 UTSW 11 115928201 missense probably damaging 1.00
R7373:Recql5 UTSW 11 115928372 missense possibly damaging 0.92
R7503:Recql5 UTSW 11 115895055 missense probably benign 0.00
R7574:Recql5 UTSW 11 115928422 missense probably benign
R7597:Recql5 UTSW 11 115928381 missense probably benign 0.03
R7658:Recql5 UTSW 11 115923276 missense probably damaging 1.00
X0026:Recql5 UTSW 11 115923261 missense probably damaging 1.00
X0028:Recql5 UTSW 11 115894606 missense probably benign
Posted On2015-04-16