Incidental Mutation 'IGL03162:Recql4'
ID411484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Recql4
Ensembl Gene ENSMUSG00000033762
Gene NameRecQ protein-like 4
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03162
Quality Score
Status
Chromosome15
Chromosomal Location76703553-76710548 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 76706096 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000036852] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000142610] [ENSMUST00000155225] [ENSMUST00000155735] [ENSMUST00000230544] [ENSMUST00000230724]
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 probably null
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

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 null
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

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 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: ENSMUST00000154531
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Predicted Effect probably null
Transcript: ENSMUST00000230544
Predicted Effect probably benign
Transcript: ENSMUST00000230724
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign Het
Other mutations in Recql4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Recql4 APN 15 76707336 missense possibly damaging 0.52
IGL01287:Recql4 APN 15 76709912 splice site probably benign
IGL01470:Recql4 APN 15 76708944 missense probably benign 0.40
IGL01809:Recql4 APN 15 76708870 nonsense probably null
IGL02094:Recql4 APN 15 76709517 missense probably benign 0.01
IGL02303:Recql4 APN 15 76708571 missense possibly damaging 0.64
IGL02702:Recql4 APN 15 76707285 missense probably damaging 1.00
IGL03086:Recql4 APN 15 76706268 missense probably benign 0.30
ANU74:Recql4 UTSW 15 76705757 missense possibly damaging 0.47
F5770:Recql4 UTSW 15 76706169 missense possibly damaging 0.79
R0688:Recql4 UTSW 15 76709809 unclassified probably null
R1171:Recql4 UTSW 15 76704039 missense possibly damaging 0.94
R1348:Recql4 UTSW 15 76709211 missense probably benign 0.01
R1487:Recql4 UTSW 15 76708983 missense probably benign 0.11
R1547:Recql4 UTSW 15 76706311 missense probably damaging 0.99
R1917:Recql4 UTSW 15 76703837 nonsense probably null
R3813:Recql4 UTSW 15 76704494 missense possibly damaging 0.67
R4066:Recql4 UTSW 15 76705827 missense probably damaging 1.00
R4363:Recql4 UTSW 15 76706044 missense probably benign 0.07
R4387:Recql4 UTSW 15 76705958 missense probably benign 0.00
R4388:Recql4 UTSW 15 76705958 missense probably benign 0.00
R4700:Recql4 UTSW 15 76708585 missense probably damaging 1.00
R4701:Recql4 UTSW 15 76708585 missense probably damaging 1.00
R4923:Recql4 UTSW 15 76710181 missense probably damaging 1.00
R5075:Recql4 UTSW 15 76709544 missense probably damaging 1.00
R5103:Recql4 UTSW 15 76706756 missense probably damaging 1.00
R5226:Recql4 UTSW 15 76710129 missense probably benign
R5500:Recql4 UTSW 15 76705578 intron probably benign
R5547:Recql4 UTSW 15 76705794 nonsense probably null
R5824:Recql4 UTSW 15 76708585 missense probably damaging 1.00
R5976:Recql4 UTSW 15 76709424 missense probably benign 0.01
R6086:Recql4 UTSW 15 76704587 missense probably damaging 0.96
R6756:Recql4 UTSW 15 76704859 missense probably benign 0.00
R7075:Recql4 UTSW 15 76706424 missense possibly damaging 0.95
R7086:Recql4 UTSW 15 76705553 missense unknown
R7449:Recql4 UTSW 15 76705565 missense unknown
R7653:Recql4 UTSW 15 76703782 missense probably benign 0.01
R8314:Recql4 UTSW 15 76710180 missense probably damaging 1.00
V7580:Recql4 UTSW 15 76706169 missense possibly damaging 0.79
V7581:Recql4 UTSW 15 76706169 missense possibly damaging 0.79
V7583:Recql4 UTSW 15 76706169 missense possibly damaging 0.79
Posted On2016-08-02