Incidental Mutation 'R2011:Recql5'
ID 219755
Institutional Source Beutler Lab
Gene Symbol Recql5
Ensembl Gene ENSMUSG00000020752
Gene Name RecQ protein-like 5
Synonyms Recql5b, Recq5b
MMRRC Submission 040020-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115783421-115824303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115787923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 465 (N465K)
Ref Sequence ENSEMBL: ENSMUSP00000021097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131566] [ENSMUST00000131578] [ENSMUST00000167507] [ENSMUST00000140174] [ENSMUST00000152171] [ENSMUST00000142089] [ENSMUST00000222123]
AlphaFold Q8VID5
Predicted Effect probably benign
Transcript: ENSMUST00000021097
AA Change: N465K

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: N465K

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: ENSMUST00000131566
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 noncoding transcript
Transcript: ENSMUST00000147172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
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: ENSMUST00000140174
SMART Domains Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152171
SMART Domains Protein: ENSMUSP00000139148
Gene: ENSMUSG00000048442

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142089
SMART Domains Protein: ENSMUSP00000138928
Gene: ENSMUSG00000048442

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222123
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,042,742 (GRCm38) T100S probably benign Het
Adam6a T C 12: 113,508,998 (GRCm39) I457T probably benign Het
Aff3 T C 1: 38,246,996 (GRCm39) N863S probably benign Het
Agk C A 6: 40,353,168 (GRCm39) D177E probably benign Het
Alg9 C T 9: 50,699,500 (GRCm39) A209V probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Bpi A T 2: 158,103,272 (GRCm39) H89L probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Cblc T A 7: 19,518,747 (GRCm39) D452V probably benign Het
Ccar1 T C 10: 62,612,473 (GRCm39) T231A probably benign Het
Ccdc112 A G 18: 46,420,499 (GRCm39) L417P probably damaging Het
Ccdc34 G A 2: 109,874,649 (GRCm39) R336Q possibly damaging Het
CK137956 A G 4: 127,844,829 (GRCm39) S305P probably benign Het
Clip2 T C 5: 134,531,969 (GRCm39) D612G probably damaging Het
Col28a1 T C 6: 8,059,360 (GRCm39) T692A probably benign Het
Copg2 A T 6: 30,793,676 (GRCm39) probably null Het
Ctnna2 T A 6: 76,950,774 (GRCm39) I566F possibly damaging Het
Cux2 C T 5: 121,999,389 (GRCm39) D1184N probably benign Het
Dclk3 A G 9: 111,297,422 (GRCm39) E322G probably benign Het
Ddx41 A T 13: 55,681,906 (GRCm39) probably null Het
Dnaaf2 G A 12: 69,243,559 (GRCm39) P107S probably damaging Het
Eif2ak4 A G 2: 118,261,428 (GRCm39) E578G probably damaging Het
Exd1 A G 2: 119,359,144 (GRCm39) probably benign Het
Fat2 G A 11: 55,173,583 (GRCm39) P2377S probably damaging Het
Fbxl18 T C 5: 142,858,214 (GRCm39) T741A probably benign Het
Fgr C A 4: 132,724,832 (GRCm39) A311E probably damaging Het
Fmo4 T C 1: 162,626,458 (GRCm39) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm39) V235A probably benign Het
Gm1110 T A 9: 26,805,554 (GRCm39) H366L probably benign Het
Gm43302 T C 5: 105,438,846 (GRCm39) N14S probably damaging Het
Gm5422 A G 10: 31,124,764 (GRCm39) noncoding transcript Het
Gm57858 A T 3: 36,064,827 (GRCm39) C515* probably null Het
Gpr21 A G 2: 37,407,547 (GRCm39) E31G probably damaging Het
Gucy1b2 G T 14: 62,646,207 (GRCm39) N560K probably damaging Het
Hmcn1 T C 1: 150,553,085 (GRCm39) Q2535R probably benign Het
Hnrnpm A T 17: 33,883,598 (GRCm39) N264K probably damaging Het
Hyal6 A T 6: 24,734,723 (GRCm39) I219L possibly damaging Het
Ifi211 A G 1: 173,735,169 (GRCm39) S87P probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Iqca1 T C 1: 89,973,348 (GRCm39) N808S probably benign Het
Kcnu1 A G 8: 26,408,470 (GRCm39) I94V probably benign Het
Lrba A T 3: 86,217,324 (GRCm39) E517V probably damaging Het
Mcidas A G 13: 113,130,515 (GRCm39) E37G possibly damaging Het
Med23 T A 10: 24,755,653 (GRCm39) F83L possibly damaging Het
Micu2 T C 14: 58,191,590 (GRCm39) probably null Het
Mrgprx2 A T 7: 48,132,282 (GRCm39) C179S probably damaging Het
Myo6 A G 9: 80,215,004 (GRCm39) T1236A probably damaging Het
Myo7a A T 7: 97,703,915 (GRCm39) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 77,636,422 (GRCm39) I508F possibly damaging Het
Or11g27 T C 14: 50,771,141 (GRCm39) S91P probably damaging Het
Or14a260 A T 7: 85,984,955 (GRCm39) Y216* probably null Het
Or2ag13 T C 7: 106,472,634 (GRCm39) I273V probably benign Het
Or5w1b A T 2: 87,476,233 (GRCm39) I78N probably damaging Het
Or8k23 A T 2: 86,186,530 (GRCm39) H65Q possibly damaging Het
Or9s13 T C 1: 92,548,471 (GRCm39) V281A probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
P2ry10 A C X: 106,146,241 (GRCm39) I59L probably damaging Het
Parp11 A G 6: 127,454,854 (GRCm39) N124S probably benign Het
Pcdh7 T A 5: 57,876,971 (GRCm39) N175K probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phc2 T A 4: 128,617,378 (GRCm39) V468E probably benign Het
Piezo2 T C 18: 63,192,815 (GRCm39) T1605A probably damaging Het
Pik3cb A T 9: 98,987,632 (GRCm39) Y35* probably null Het
Piwil2 A T 14: 70,664,083 (GRCm39) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm39) F101L probably damaging Het
Pomt2 A G 12: 87,158,173 (GRCm39) L680P possibly damaging Het
Ppp1r36 A G 12: 76,465,700 (GRCm39) probably null Het
Prkag2 C T 5: 25,076,052 (GRCm39) probably null Het
Prkg1 T C 19: 31,641,542 (GRCm39) D47G possibly damaging Het
Prl6a1 G A 13: 27,499,352 (GRCm39) G45D probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Rlig1 T G 10: 100,419,820 (GRCm39) D58A probably damaging Het
Rtcb A T 10: 85,777,797 (GRCm39) I459N probably damaging Het
Rtp3 A T 9: 110,815,102 (GRCm39) probably benign Het
Rundc3b T A 5: 8,562,409 (GRCm39) probably null Het
Scube3 A G 17: 28,387,132 (GRCm39) T877A probably damaging Het
Sh2d4a A T 8: 68,799,394 (GRCm39) Q421L probably benign Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slco1c1 T A 6: 141,500,833 (GRCm39) F437L probably benign Het
Slco3a1 G A 7: 73,996,419 (GRCm39) A329V probably benign Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spen A T 4: 141,200,640 (GRCm39) N2662K probably damaging Het
Sptb G C 12: 76,679,246 (GRCm39) R70G possibly damaging Het
Stk3 A G 15: 35,072,644 (GRCm39) S136P probably damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Tbx5 T C 5: 119,979,971 (GRCm39) probably null Het
Tchh G A 3: 93,354,268 (GRCm39) R1236Q unknown Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem151a C T 19: 5,132,966 (GRCm39) R80H probably benign Het
Tpgs1 T C 10: 79,511,722 (GRCm39) L288P probably damaging Het
Trhde T C 10: 114,334,698 (GRCm39) I659V probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Ttc5 C A 14: 51,019,007 (GRCm39) E37* probably null Het
Uvrag A G 7: 98,589,096 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,283 (GRCm39) D159V probably damaging Het
Vmn2r78 G A 7: 86,604,287 (GRCm39) V822M possibly damaging Het
Vnn1 C A 10: 23,770,869 (GRCm39) Y32* probably null Het
Wrn A G 8: 33,726,432 (GRCm39) V1380A probably benign Het
Zc3h14 A C 12: 98,746,527 (GRCm39) S579R possibly damaging Het
Zfp277 G A 12: 40,367,217 (GRCm39) Q480* probably null Het
Zfp456 G A 13: 67,514,993 (GRCm39) Q238* probably null Het
Zranb3 T A 1: 128,019,638 (GRCm39) T35S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CATACCTAAAGGACAGGCTAGG -3'
(R):5'- GCACTCACTGCCTGTTCTAG -3'

Sequencing Primer
(F):5'- ATGCAGGGGCTCTGTCCTTC -3'
(R):5'- CTGTTCTAGGTGCCGCCATG -3'
Posted On 2014-08-25