Incidental Mutation 'IGL02198:Recql5'
ID 284115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql5
Ensembl Gene ENSMUSG00000020752
Gene Name RecQ protein-like 5
Synonyms Recq5b, Recql5b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.488) question?
Stock # IGL02198
Quality Score
Status
Chromosome 11
Chromosomal Location 115892595-115933477 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115894673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 666 (S666A)
Ref Sequence ENSEMBL: ENSMUSP00000021097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000167507] [ENSMUST00000222123]
AlphaFold Q8VID5
Predicted Effect probably benign
Transcript: ENSMUST00000021097
AA Change: S666A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: S666A

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: ENSMUST00000093911
SMART Domains Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427

DomainStartEndE-ValueType
MYSc 1 640 2.4e-134 SMART
IQ 660 682 1.03e1 SMART
Pfam:MyTH4 837 945 2.1e-23 PFAM
low complexity region 1050 1068 N/A INTRINSIC
low complexity region 1136 1170 N/A INTRINSIC
low complexity region 1207 1246 N/A INTRINSIC
low complexity region 1302 1327 N/A INTRINSIC
low complexity region 1454 1468 N/A INTRINSIC
low complexity region 1489 1509 N/A INTRINSIC
SH3 1735 1792 1.15e-7 SMART
Pfam:MyTH4 1928 2029 8.3e-25 PFAM
B41 2032 2235 6.99e-4 SMART
low complexity region 2243 2253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131578
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
HELICc 1 82 8.68e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136774
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: ENSMUST00000141947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147172
Predicted Effect probably benign
Transcript: ENSMUST00000167507
SMART Domains Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427

DomainStartEndE-ValueType
Pfam:MyTH4 100 205 3.1e-24 PFAM
B41 207 410 6.99e-4 SMART
low complexity region 418 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222123
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,546,492 I381T probably damaging Het
Armt1 T A 10: 4,454,064 F383Y possibly damaging Het
Cdca2 A G 14: 67,694,996 V486A probably benign Het
Cep78 A G 19: 15,956,369 L615S probably damaging Het
Clec2h C A 6: 128,674,016 C86* probably null Het
Cntnap5a C T 1: 116,580,532 T1258I probably benign Het
Dhrs7c T A 11: 67,815,802 M262K possibly damaging Het
Dmpk C A 7: 19,088,192 F332L probably damaging Het
Dyx1c1 G A 9: 72,969,066 V308I probably benign Het
Fap A G 2: 62,554,798 F73L probably benign Het
Igsf10 A T 3: 59,325,978 I1778N possibly damaging Het
Il6ra T C 3: 89,890,348 T71A probably benign Het
Itpr2 C A 6: 146,323,227 A1389S probably damaging Het
Mob3b T C 4: 35,083,983 N69D probably damaging Het
Nr1h3 A G 2: 91,192,725 W21R probably damaging Het
Olfr1305 A T 2: 111,873,248 N202K probably damaging Het
Ovca2 A G 11: 75,178,770 V9A possibly damaging Het
Ovch2 T A 7: 107,794,834 K137N probably damaging Het
Pabpc1l A G 2: 164,027,616 N112S probably damaging Het
Plekho1 T A 3: 95,992,184 N99I probably damaging Het
Scn3a G T 2: 65,508,489 H615Q probably benign Het
Sel1l3 A G 5: 53,139,799 probably benign Het
Slc38a2 A T 15: 96,692,377 S328T probably damaging Het
Taok1 T C 11: 77,575,677 probably benign Het
Tsnax T A 8: 125,032,712 Y237* probably null Het
Ttn T A 2: 76,714,630 K24382N probably damaging Het
Ugt1a9 T A 1: 88,071,443 V205E possibly damaging Het
Unc80 C A 1: 66,529,986 D933E possibly damaging Het
Vnn1 A T 10: 23,903,425 T411S probably benign Het
Wdr27 C A 17: 14,908,598 G531V possibly damaging Het
Zfp760 G T 17: 21,722,212 V123L probably benign 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
IGL02131:Recql5 APN 11 115923242 missense probably benign 0.01
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
R8025:Recql5 UTSW 11 115928112 missense probably damaging 1.00
R8038:Recql5 UTSW 11 115927352 missense possibly damaging 0.90
R8316:Recql5 UTSW 11 115894035 missense possibly damaging 0.46
R8463:Recql5 UTSW 11 115896793 nonsense probably null
R8770:Recql5 UTSW 11 115897117 missense probably benign 0.00
R8788:Recql5 UTSW 11 115895802 missense probably benign
R9083:Recql5 UTSW 11 115894649 missense possibly damaging 0.46
R9653:Recql5 UTSW 11 115897206 missense probably benign 0.01
R9711:Recql5 UTSW 11 115893541 missense probably damaging 1.00
X0026:Recql5 UTSW 11 115923261 missense probably damaging 1.00
X0028:Recql5 UTSW 11 115894606 missense probably benign
Posted On 2015-04-16