Incidental Mutation 'IGL00088:Recql4'
ID 906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql4
Ensembl Gene ENSMUSG00000033762
Gene Name RecQ protein-like 4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00088
Quality Score
Status
Chromosome 15
Chromosomal Location 76587753-76594748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76591536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 484 (A484T)
Ref Sequence ENSEMBL: ENSMUSP00000044363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000230544] [ENSMUST00000230724] [ENSMUST00000155225] [ENSMUST00000142610] [ENSMUST00000155735]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019224
SMART Domains Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080

DomainStartEndE-ValueType
Pfam:MFS_1 8 373 3e-16 PFAM
transmembrane domain 388 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036423
SMART Domains Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000036852
AA Change: A484T

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: A484T

DomainStartEndE-ValueType
Pfam:Drc1-Sld2 4 132 2.8e-14 PFAM
low complexity region 169 187 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
ZnF_C2HC 394 410 5.67e-5 SMART
DEXDc 494 701 5.86e-28 SMART
HELICc 736 831 1.48e-24 SMART
Blast:DEXDc 902 1117 3e-46 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127208
SMART Domains Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136840
SMART Domains Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137649
SMART Domains Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142506
Predicted Effect probably benign
Transcript: ENSMUST00000230544
AA Change: A391T

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Predicted Effect probably benign
Transcript: ENSMUST00000155225
Predicted Effect probably benign
Transcript: ENSMUST00000142610
SMART Domains Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229018
Predicted Effect probably benign
Transcript: ENSMUST00000155735
SMART Domains Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
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 DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Recql4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Recql4 APN 15 76,594,112 (GRCm39) splice site probably benign
IGL01470:Recql4 APN 15 76,593,144 (GRCm39) missense probably benign 0.40
IGL01809:Recql4 APN 15 76,593,070 (GRCm39) nonsense probably null
IGL02094:Recql4 APN 15 76,593,717 (GRCm39) missense probably benign 0.01
IGL02303:Recql4 APN 15 76,592,771 (GRCm39) missense possibly damaging 0.64
IGL02702:Recql4 APN 15 76,591,485 (GRCm39) missense probably damaging 1.00
IGL03086:Recql4 APN 15 76,590,468 (GRCm39) missense probably benign 0.30
IGL03162:Recql4 APN 15 76,590,296 (GRCm39) splice site probably null
ANU74:Recql4 UTSW 15 76,589,957 (GRCm39) missense possibly damaging 0.47
F5770:Recql4 UTSW 15 76,590,369 (GRCm39) missense possibly damaging 0.79
R0688:Recql4 UTSW 15 76,594,009 (GRCm39) splice site probably null
R1171:Recql4 UTSW 15 76,588,239 (GRCm39) missense possibly damaging 0.94
R1348:Recql4 UTSW 15 76,593,411 (GRCm39) missense probably benign 0.01
R1487:Recql4 UTSW 15 76,593,183 (GRCm39) missense probably benign 0.11
R1547:Recql4 UTSW 15 76,590,511 (GRCm39) missense probably damaging 0.99
R1917:Recql4 UTSW 15 76,588,037 (GRCm39) nonsense probably null
R3813:Recql4 UTSW 15 76,588,694 (GRCm39) missense possibly damaging 0.67
R4066:Recql4 UTSW 15 76,590,027 (GRCm39) missense probably damaging 1.00
R4363:Recql4 UTSW 15 76,590,244 (GRCm39) missense probably benign 0.07
R4387:Recql4 UTSW 15 76,590,158 (GRCm39) missense probably benign 0.00
R4388:Recql4 UTSW 15 76,590,158 (GRCm39) missense probably benign 0.00
R4700:Recql4 UTSW 15 76,592,785 (GRCm39) missense probably damaging 1.00
R4701:Recql4 UTSW 15 76,592,785 (GRCm39) missense probably damaging 1.00
R4923:Recql4 UTSW 15 76,594,381 (GRCm39) missense probably damaging 1.00
R5075:Recql4 UTSW 15 76,593,744 (GRCm39) missense probably damaging 1.00
R5103:Recql4 UTSW 15 76,590,956 (GRCm39) missense probably damaging 1.00
R5226:Recql4 UTSW 15 76,594,329 (GRCm39) missense probably benign
R5500:Recql4 UTSW 15 76,589,778 (GRCm39) intron probably benign
R5547:Recql4 UTSW 15 76,589,994 (GRCm39) nonsense probably null
R5824:Recql4 UTSW 15 76,592,785 (GRCm39) missense probably damaging 1.00
R5976:Recql4 UTSW 15 76,593,624 (GRCm39) missense probably benign 0.01
R6086:Recql4 UTSW 15 76,588,787 (GRCm39) missense probably damaging 0.96
R6756:Recql4 UTSW 15 76,589,059 (GRCm39) missense probably benign 0.00
R7075:Recql4 UTSW 15 76,590,624 (GRCm39) missense possibly damaging 0.95
R7086:Recql4 UTSW 15 76,589,753 (GRCm39) missense unknown
R7449:Recql4 UTSW 15 76,589,765 (GRCm39) missense unknown
R7653:Recql4 UTSW 15 76,587,982 (GRCm39) missense probably benign 0.01
R8314:Recql4 UTSW 15 76,594,380 (GRCm39) missense probably damaging 1.00
R8480:Recql4 UTSW 15 76,588,705 (GRCm39) missense probably benign 0.03
R8737:Recql4 UTSW 15 76,593,054 (GRCm39) missense probably benign 0.00
R8789:Recql4 UTSW 15 76,588,546 (GRCm39) missense probably benign
R9093:Recql4 UTSW 15 76,589,685 (GRCm39) missense unknown
V7580:Recql4 UTSW 15 76,590,369 (GRCm39) missense possibly damaging 0.79
V7581:Recql4 UTSW 15 76,590,369 (GRCm39) missense possibly damaging 0.79
V7583:Recql4 UTSW 15 76,590,369 (GRCm39) missense possibly damaging 0.79
Posted On 2011-07-12