Incidental Mutation 'R5075:Recql4'
ID 386940
Institutional Source Beutler Lab
Gene Symbol Recql4
Ensembl Gene ENSMUSG00000033762
Gene Name RecQ protein-like 4
Synonyms
MMRRC Submission 042664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5075 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76587753-76594748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76593744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 122 (P122L)
Ref Sequence ENSEMBL: ENSMUSP00000154957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000230544] [ENSMUST00000230724] [ENSMUST00000142610] [ENSMUST00000155225] [ENSMUST00000155735]
AlphaFold no structure available at present
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 probably damaging
Transcript: ENSMUST00000036852
AA Change: P122L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: P122L

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: ENSMUST00000138132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154531
Predicted Effect possibly damaging
Transcript: ENSMUST00000230544
AA Change: P29L

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000230724
AA Change: P122L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229360
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 probably benign
Transcript: ENSMUST00000155225
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
Meta Mutation Damage Score 0.2417 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (57/57)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,587,456 (GRCm39) F33S probably damaging Het
Atf7ip A G 6: 136,537,232 (GRCm39) D163G probably benign Het
Cep85 C A 4: 133,859,678 (GRCm39) D662Y probably damaging Het
Cntn6 T A 6: 104,809,991 (GRCm39) S558T probably damaging Het
Dnah8 T C 17: 30,958,731 (GRCm39) probably null Het
Dnah8 T A 17: 31,019,505 (GRCm39) N3859K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Esm1 A G 13: 113,349,892 (GRCm39) Y104C probably damaging Het
Fkbp15 T C 4: 62,239,266 (GRCm39) K613R probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,808,387 (GRCm39) probably benign Het
Hdac4 A G 1: 91,923,842 (GRCm39) S223P probably benign Het
Hypk A G 2: 121,286,111 (GRCm39) probably benign Het
Kpna1 T A 16: 35,829,722 (GRCm39) F70I probably damaging Het
Lrp2 A G 2: 69,296,102 (GRCm39) Y3336H probably benign Het
Mier1 A G 4: 102,996,670 (GRCm39) D99G probably benign Het
Muc4 T C 16: 32,754,794 (GRCm38) probably benign Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or5b121 T A 19: 13,507,637 (GRCm39) M244K probably benign Het
Peg3 A T 7: 6,711,419 (GRCm39) C1268S probably damaging Het
Rex2 A T 4: 147,142,151 (GRCm39) Q213L possibly damaging Het
Rnf25 A G 1: 74,634,803 (GRCm39) V73A probably benign Het
Sacm1l A G 9: 123,411,327 (GRCm39) D372G probably benign Het
Selplg T C 5: 113,958,045 (GRCm39) D87G probably benign Het
Sgsh G A 11: 119,237,594 (GRCm39) T340M probably benign Het
Slc4a3 A T 1: 75,534,012 (GRCm39) I1120F probably damaging Het
Snrnp40 T C 4: 130,282,375 (GRCm39) Y311H probably benign Het
Spata31e2 T C 1: 26,722,133 (GRCm39) K1016E probably damaging Het
Stard7 A T 2: 127,111,879 (GRCm39) probably benign Het
Stat1 A T 1: 52,161,871 (GRCm39) K40M possibly damaging Het
Sun1 T C 5: 139,212,646 (GRCm39) probably null Het
Tet2 T A 3: 133,192,667 (GRCm39) Q589L probably benign Het
Tmc7 A T 7: 118,151,919 (GRCm39) probably null Het
Tmt1b A G 10: 128,796,549 (GRCm39) F87L probably damaging Het
Unc79 A T 12: 103,041,213 (GRCm39) I749F possibly damaging Het
Ust A G 10: 8,393,988 (GRCm39) F59S probably damaging Het
Wdr81 A T 11: 75,343,307 (GRCm39) D653E probably benign Het
Zfat A G 15: 68,052,079 (GRCm39) S572P probably benign Het
Zmynd15 G C 11: 70,352,946 (GRCm39) E143D probably damaging Het
Zzef1 A G 11: 72,749,170 (GRCm39) E886G probably damaging Het
Other mutations in Recql4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Recql4 APN 15 76,591,536 (GRCm39) missense possibly damaging 0.52
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
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
Predicted Primers PCR Primer
(F):5'- TGAAACTCTGTTGTGACACCTC -3'
(R):5'- AGGGTCCTTCTATGTCCACC -3'

Sequencing Primer
(F):5'- TCTCTAACCAACCAGGGTCTAGGG -3'
(R):5'- ACCCTTCCTTATAGCACGCACG -3'
Posted On 2016-06-06