Incidental Mutation 'R2133:Helz'
ID 233570
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 040136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2133 (G1)
Quality Score 170
Status Not validated
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107561310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 775 (N775K)
Ref Sequence ENSEMBL: ENSMUSP00000117498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]
AlphaFold Q6DFV5
Predicted Effect unknown
Transcript: ENSMUST00000075012
AA Change: N1457K
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: N1457K

DomainStartEndE-ValueType
SCOP:d1ihga1 6 84 5e-3 SMART
low complexity region 129 146 N/A INTRINSIC
ZnF_C3H1 178 205 2.61e-4 SMART
Pfam:ResIII 639 807 6.7e-8 PFAM
Pfam:AAA_11 641 768 2.3e-14 PFAM
Pfam:AAA_30 641 838 2.6e-11 PFAM
Pfam:AAA_19 648 729 5.5e-11 PFAM
Pfam:AAA_11 758 834 3.8e-18 PFAM
Pfam:AAA_12 841 1053 7.4e-38 PFAM
low complexity region 1165 1176 N/A INTRINSIC
low complexity region 1360 1448 N/A INTRINSIC
low complexity region 1466 1487 N/A INTRINSIC
low complexity region 1557 1568 N/A INTRINSIC
low complexity region 1631 1647 N/A INTRINSIC
low complexity region 1716 1736 N/A INTRINSIC
low complexity region 1926 1933 N/A INTRINSIC
low complexity region 1942 1957 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000100305
AA Change: N1456K
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: N1456K

DomainStartEndE-ValueType
SCOP:d1ihga1 6 84 5e-3 SMART
low complexity region 129 146 N/A INTRINSIC
ZnF_C3H1 178 205 2.61e-4 SMART
Pfam:AAA_11 641 833 2.7e-31 PFAM
Pfam:AAA_30 641 837 1.7e-10 PFAM
Pfam:AAA_19 648 727 6.3e-9 PFAM
Pfam:AAA_12 840 1052 3.4e-36 PFAM
low complexity region 1164 1175 N/A INTRINSIC
low complexity region 1359 1447 N/A INTRINSIC
low complexity region 1465 1486 N/A INTRINSIC
low complexity region 1556 1567 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106746
AA Change: N1456K
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: N1456K

DomainStartEndE-ValueType
SCOP:d1ihga1 6 84 5e-3 SMART
low complexity region 129 146 N/A INTRINSIC
ZnF_C3H1 178 205 2.61e-4 SMART
Pfam:AAA_11 641 833 1e-31 PFAM
Pfam:AAA_30 641 837 8.3e-11 PFAM
Pfam:AAA_19 648 727 2.2e-9 PFAM
Pfam:AAA_12 840 1052 1.7e-36 PFAM
low complexity region 1164 1175 N/A INTRINSIC
low complexity region 1359 1447 N/A INTRINSIC
low complexity region 1465 1486 N/A INTRINSIC
low complexity region 1556 1567 N/A INTRINSIC
low complexity region 1630 1646 N/A INTRINSIC
low complexity region 1715 1735 N/A INTRINSIC
low complexity region 1925 1932 N/A INTRINSIC
low complexity region 1941 1956 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000133862
AA Change: N775K
SMART Domains Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: N775K

DomainStartEndE-ValueType
Pfam:AAA_11 68 152 2.1e-19 PFAM
Pfam:AAA_12 159 371 1.5e-36 PFAM
low complexity region 483 494 N/A INTRINSIC
low complexity region 678 766 N/A INTRINSIC
low complexity region 784 805 N/A INTRINSIC
low complexity region 875 886 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154847
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,972 (GRCm39) K86E possibly damaging Het
Abcb11 A T 2: 69,154,227 (GRCm39) V113E possibly damaging Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrb1 T A 15: 74,401,757 (GRCm39) L251Q probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apc C A 18: 34,445,098 (GRCm39) Q665K possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atp6v1c2 T C 12: 17,371,612 (GRCm39) T62A probably benign Het
Atp7b T C 8: 22,501,093 (GRCm39) T937A probably damaging Het
BC034090 C T 1: 155,101,532 (GRCm39) G244D probably benign Het
C2 G A 17: 35,098,878 (GRCm39) T146M probably damaging Het
Cacna1h A G 17: 25,602,502 (GRCm39) F1403L probably damaging Het
Camk2b T C 11: 5,927,880 (GRCm39) E390G probably benign Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc141 G A 2: 76,889,951 (GRCm39) T447I probably benign Het
Cep164 T C 9: 45,714,481 (GRCm39) E182G probably damaging Het
Clstn3 T C 6: 124,426,462 (GRCm39) T575A probably benign Het
Cntnap2 T C 6: 47,275,379 (GRCm39) L1277P probably damaging Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Ddx10 T A 9: 53,060,812 (GRCm39) R768S probably benign Het
Dis3 A T 14: 99,317,313 (GRCm39) N710K probably benign Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Emx2 A G 19: 59,452,465 (GRCm39) T250A probably damaging Het
Epb41l4a T C 18: 34,007,248 (GRCm39) T248A probably damaging Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Etv4 A G 11: 101,666,243 (GRCm39) I95T probably damaging Het
Etv6 T C 6: 134,225,717 (GRCm39) V316A possibly damaging Het
Exoc4 T C 6: 33,735,093 (GRCm39) V570A probably benign Het
Exoc4 T C 6: 33,887,473 (GRCm39) S754P probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fam217a T C 13: 35,097,663 (GRCm39) H208R probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Fhad1 G A 4: 141,655,711 (GRCm39) R798C probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gm1587 A T 14: 78,032,296 (GRCm39) C113* probably null Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Guca2b T C 4: 119,514,828 (GRCm39) R78G probably benign Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCACC 1: 135,314,013 (GRCm39) probably benign Het
Irak3 A G 10: 120,001,082 (GRCm39) I281T probably benign Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Khsrp A T 17: 57,334,832 (GRCm39) I138N probably benign Het
Larp1b T C 3: 40,924,970 (GRCm39) M149T possibly damaging Het
Ldhc A T 7: 46,519,023 (GRCm39) D82V probably damaging Het
Lgmn T C 12: 102,361,167 (GRCm39) Y400C probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpo T A 11: 87,711,956 (GRCm39) I34F probably benign Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mamld1 C A X: 70,162,998 (GRCm39) Q670K probably benign Het
Mcrs1 A T 15: 99,141,256 (GRCm39) D402E probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Morc2a T A 11: 3,630,302 (GRCm39) C499* probably null Het
Mpp2 G A 11: 101,955,421 (GRCm39) R110C probably benign Het
Msra T A 14: 64,471,377 (GRCm39) T47S probably damaging Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ogdhl T C 14: 32,047,891 (GRCm39) V47A probably benign Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or4a72 G A 2: 89,405,600 (GRCm39) Q157* probably null Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pcdhb14 C A 18: 37,580,923 (GRCm39) Q10K probably benign Het
Pkhd1l1 T C 15: 44,379,581 (GRCm39) I1069T possibly damaging Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptprg T A 14: 12,211,637 (GRCm38) I198N probably damaging Het
Rbm12 A T 2: 155,937,430 (GRCm39) C947* probably null Het
Rc3h2 A T 2: 37,268,928 (GRCm39) I846K probably benign Het
Ren1 C A 1: 133,286,720 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf157 A G 11: 116,249,520 (GRCm39) V232A possibly damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Rrp1 T C 10: 78,237,728 (GRCm39) probably benign Het
Rsph6a T A 7: 18,802,031 (GRCm39) V360E probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Slc41a3 C T 6: 90,603,363 (GRCm39) A128V probably damaging Het
Slc7a9 T C 7: 35,152,918 (GRCm39) F112S probably damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Spidr G A 16: 15,871,137 (GRCm39) L278F probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Synpo T C 18: 60,735,967 (GRCm39) N421D probably damaging Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tmem132a C A 19: 10,841,430 (GRCm39) R298L probably benign Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trappc12 A T 12: 28,796,597 (GRCm39) S312T probably benign Het
Ttc9b T A 7: 27,353,774 (GRCm39) probably null Het
Ttn G A 2: 76,680,956 (GRCm39) Q1044* probably null Het
Ugt2b34 C T 5: 87,054,416 (GRCm39) D122N probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Zc3h6 A G 2: 128,809,750 (GRCm39) H9R possibly damaging Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp521 G A 18: 13,977,762 (GRCm39) P884S possibly damaging Het
Zfp64 A G 2: 168,782,663 (GRCm39) Y146H probably damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zswim6 T A 13: 107,880,522 (GRCm39) noncoding transcript Het
Other mutations in Helz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Helz APN 11 107,554,479 (GRCm39) missense possibly damaging 0.90
IGL01419:Helz APN 11 107,577,340 (GRCm39) missense unknown
IGL01864:Helz APN 11 107,493,180 (GRCm39) missense probably damaging 0.98
IGL01999:Helz APN 11 107,493,754 (GRCm39) splice site probably benign
IGL02938:Helz APN 11 107,577,264 (GRCm39) missense unknown
IGL03157:Helz APN 11 107,468,714 (GRCm39) missense possibly damaging 0.95
IGL03374:Helz APN 11 107,510,973 (GRCm39) missense probably damaging 0.98
R0058:Helz UTSW 11 107,563,384 (GRCm39) unclassified probably benign
R0058:Helz UTSW 11 107,563,384 (GRCm39) unclassified probably benign
R0112:Helz UTSW 11 107,563,774 (GRCm39) unclassified probably benign
R0243:Helz UTSW 11 107,528,740 (GRCm39) missense possibly damaging 0.85
R0328:Helz UTSW 11 107,495,174 (GRCm39) missense probably benign 0.30
R0578:Helz UTSW 11 107,577,226 (GRCm39) missense unknown
R0928:Helz UTSW 11 107,517,519 (GRCm39) missense probably damaging 0.99
R1428:Helz UTSW 11 107,483,666 (GRCm39) splice site probably benign
R1493:Helz UTSW 11 107,504,751 (GRCm39) missense probably benign 0.15
R1494:Helz UTSW 11 107,494,889 (GRCm39) splice site probably benign
R1541:Helz UTSW 11 107,560,874 (GRCm39) missense probably benign 0.39
R1619:Helz UTSW 11 107,527,105 (GRCm39) nonsense probably null
R1809:Helz UTSW 11 107,489,997 (GRCm39) missense possibly damaging 0.87
R1942:Helz UTSW 11 107,493,318 (GRCm39) missense probably benign 0.20
R2095:Helz UTSW 11 107,536,972 (GRCm39) missense probably damaging 1.00
R2167:Helz UTSW 11 107,563,790 (GRCm39) unclassified probably benign
R2406:Helz UTSW 11 107,577,378 (GRCm39) missense unknown
R2571:Helz UTSW 11 107,504,778 (GRCm39) missense probably benign 0.05
R2858:Helz UTSW 11 107,563,753 (GRCm39) unclassified probably benign
R3927:Helz UTSW 11 107,576,118 (GRCm39) missense unknown
R4449:Helz UTSW 11 107,494,989 (GRCm39) missense probably benign 0.01
R4453:Helz UTSW 11 107,563,455 (GRCm39) nonsense probably null
R4583:Helz UTSW 11 107,536,895 (GRCm39) missense probably damaging 1.00
R4684:Helz UTSW 11 107,539,971 (GRCm39) missense probably damaging 1.00
R4714:Helz UTSW 11 107,517,542 (GRCm39) critical splice donor site probably null
R4875:Helz UTSW 11 107,528,560 (GRCm39) intron probably benign
R4924:Helz UTSW 11 107,493,165 (GRCm39) missense probably damaging 1.00
R4930:Helz UTSW 11 107,510,994 (GRCm39) missense probably damaging 0.99
R5078:Helz UTSW 11 107,546,922 (GRCm39) missense probably damaging 1.00
R5446:Helz UTSW 11 107,523,030 (GRCm39) missense probably damaging 1.00
R5535:Helz UTSW 11 107,536,946 (GRCm39) missense probably damaging 0.98
R5650:Helz UTSW 11 107,485,972 (GRCm39) missense probably null 0.96
R5714:Helz UTSW 11 107,517,347 (GRCm39) splice site probably null
R5784:Helz UTSW 11 107,561,307 (GRCm39) missense unknown
R5998:Helz UTSW 11 107,576,360 (GRCm39) nonsense probably null
R6042:Helz UTSW 11 107,504,946 (GRCm39) critical splice donor site probably null
R6089:Helz UTSW 11 107,485,963 (GRCm39) critical splice acceptor site probably null
R6137:Helz UTSW 11 107,509,886 (GRCm39) missense possibly damaging 0.83
R6373:Helz UTSW 11 107,486,010 (GRCm39) missense probably benign 0.01
R6392:Helz UTSW 11 107,493,167 (GRCm39) missense possibly damaging 0.80
R6618:Helz UTSW 11 107,489,976 (GRCm39) missense probably benign 0.01
R6644:Helz UTSW 11 107,523,087 (GRCm39) missense possibly damaging 0.74
R6811:Helz UTSW 11 107,510,144 (GRCm39) critical splice donor site probably null
R6874:Helz UTSW 11 107,554,460 (GRCm39) missense probably damaging 0.97
R6911:Helz UTSW 11 107,510,051 (GRCm39) missense probably benign 0.01
R7039:Helz UTSW 11 107,510,144 (GRCm39) critical splice donor site probably null
R7061:Helz UTSW 11 107,540,003 (GRCm39) missense possibly damaging 0.83
R7438:Helz UTSW 11 107,552,856 (GRCm39) missense probably damaging 0.98
R7464:Helz UTSW 11 107,527,104 (GRCm39) missense probably damaging 1.00
R7513:Helz UTSW 11 107,546,941 (GRCm39) missense probably damaging 0.99
R7559:Helz UTSW 11 107,491,104 (GRCm39) missense possibly damaging 0.67
R7734:Helz UTSW 11 107,576,248 (GRCm39) missense unknown
R7780:Helz UTSW 11 107,528,689 (GRCm39) missense probably damaging 1.00
R7982:Helz UTSW 11 107,517,456 (GRCm39) missense possibly damaging 0.84
R8024:Helz UTSW 11 107,577,247 (GRCm39) missense unknown
R8181:Helz UTSW 11 107,563,399 (GRCm39) missense unknown
R8346:Helz UTSW 11 107,563,399 (GRCm39) missense unknown
R8729:Helz UTSW 11 107,528,754 (GRCm39) critical splice donor site probably null
R8807:Helz UTSW 11 107,493,835 (GRCm39) missense probably damaging 1.00
R8821:Helz UTSW 11 107,525,919 (GRCm39) missense probably damaging 0.99
R8891:Helz UTSW 11 107,552,842 (GRCm39) missense probably damaging 0.99
R8909:Helz UTSW 11 107,556,834 (GRCm39) missense possibly damaging 0.94
R8922:Helz UTSW 11 107,539,985 (GRCm39) missense possibly damaging 0.90
R8926:Helz UTSW 11 107,563,509 (GRCm39) missense unknown
R8988:Helz UTSW 11 107,495,079 (GRCm39) missense probably damaging 0.99
R9053:Helz UTSW 11 107,563,761 (GRCm39) missense unknown
R9056:Helz UTSW 11 107,547,019 (GRCm39) missense possibly damaging 0.84
R9099:Helz UTSW 11 107,523,041 (GRCm39) missense probably damaging 1.00
R9122:Helz UTSW 11 107,556,830 (GRCm39) missense probably benign 0.17
R9194:Helz UTSW 11 107,561,113 (GRCm39) nonsense probably null
R9220:Helz UTSW 11 107,560,873 (GRCm39) missense probably benign 0.11
R9223:Helz UTSW 11 107,509,918 (GRCm39) missense probably benign 0.17
R9242:Helz UTSW 11 107,523,153 (GRCm39) missense probably damaging 1.00
R9644:Helz UTSW 11 107,563,687 (GRCm39) missense unknown
R9761:Helz UTSW 11 107,560,874 (GRCm39) nonsense probably null
X0065:Helz UTSW 11 107,561,273 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACCTCAGCCAAATCAGGTG -3'
(R):5'- TCAGACATGACATTGTGACAGG -3'

Sequencing Primer
(F):5'- AATCAGGTGGCACCCCAG -3'
(R):5'- CTTCTTCTATAGGCAATCCTGGAGAG -3'
Posted On 2014-10-01