Incidental Mutation 'R1936:Recql5'
ID 215832
Institutional Source Beutler Lab
Gene Symbol Recql5
Ensembl Gene ENSMUSG00000020752
Gene Name RecQ protein-like 5
Synonyms Recql5b, Recq5b
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115783421-115824303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115788017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 434 (Y434C)
Ref Sequence ENSEMBL: ENSMUSP00000021097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131566] [ENSMUST00000131578] [ENSMUST00000152171] [ENSMUST00000140174] [ENSMUST00000142089] [ENSMUST00000167507] [ENSMUST00000222123]
AlphaFold Q8VID5
Predicted Effect probably benign
Transcript: ENSMUST00000021097
AA Change: Y434C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: Y434C

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
AA Change: T214A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: T214A

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: ENSMUST00000152171
SMART Domains Protein: ENSMUSP00000139148
Gene: ENSMUSG00000048442

DomainStartEndE-ValueType
transmembrane domain 30 52 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: ENSMUST00000142089
SMART Domains Protein: ENSMUSP00000138928
Gene: ENSMUSG00000048442

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
Predicted Primers PCR Primer
(F):5'- TTGGCCTGGCTAGTACAGTG -3'
(R):5'- ACGCCCTGTGGATAAAAGGG -3'

Sequencing Primer
(F):5'- CCTGGCTAGTACAGTGGAATGAC -3'
(R):5'- AAGTTCCAGGTGATCTGACACTC -3'
Posted On 2014-07-14