Incidental Mutation 'IGL03028:Recql5'
ID 408297
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 # IGL03028
Quality Score
Status
Chromosome 11
Chromosomal Location 115783421-115824303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115785257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 746 (S746R)
Ref Sequence ENSEMBL: ENSMUSP00000021097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000222123] [ENSMUST00000167507]
AlphaFold Q8VID5
Predicted Effect possibly damaging
Transcript: ENSMUST00000021097
AA Change: S746R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: S746R

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: ENSMUST00000144824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141947
Predicted Effect probably benign
Transcript: ENSMUST00000222123
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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly 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
IGL02131:Recql5 APN 11 115,814,068 (GRCm39) missense probably benign 0.01
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
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 2016-08-02