Incidental Mutation 'R2167:Helz'
ID 235562
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 040170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2167 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 107563790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: H1743Q
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: H1743Q

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 probably benign
Transcript: ENSMUST00000100305
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721

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: H1742Q
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: H1742Q

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 probably benign
Transcript: ENSMUST00000133862
SMART Domains Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721

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
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (57/58)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,238,532 (GRCm39) T710M probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Acsl1 A G 8: 46,986,627 (GRCm39) D638G possibly damaging Het
Acsl6 C A 11: 54,217,983 (GRCm39) T207K probably benign Het
Ahnak A T 19: 8,988,858 (GRCm39) K3381* probably null Het
Art1 T C 7: 101,756,031 (GRCm39) V74A probably damaging Het
Bhmt2 A T 13: 93,799,012 (GRCm39) W270R probably benign Het
Calm2 T C 17: 87,742,573 (GRCm39) T118A probably benign Het
Ccdc88b G T 19: 6,831,452 (GRCm39) Q497K possibly damaging Het
Ccne2 A T 4: 11,197,249 (GRCm39) M183L probably benign Het
Cdc42bpg A G 19: 6,367,707 (GRCm39) I1026V probably damaging Het
Celsr2 T C 3: 108,320,509 (GRCm39) T768A probably damaging Het
Cog5 T C 12: 31,887,288 (GRCm39) F470L probably damaging Het
Cpne5 T C 17: 29,381,306 (GRCm39) D374G probably damaging Het
Disp2 A C 2: 118,622,166 (GRCm39) E966A probably damaging Het
Dmrtc2 C T 7: 24,573,344 (GRCm39) probably benign Het
Eif2b3 T A 4: 116,885,737 (GRCm39) I93N probably damaging Het
Elfn2 C A 15: 78,556,646 (GRCm39) V634L probably benign Het
Fasl T G 1: 161,614,707 (GRCm39) S119R probably benign Het
Foxp2 C G 6: 15,437,901 (GRCm39) P701A probably damaging Het
Kctd6 T C 14: 8,222,683 (GRCm38) V175A probably benign Het
Leo1 A G 9: 75,352,991 (GRCm39) N178S probably benign Het
Lhx6 C A 2: 35,993,371 (GRCm39) R80L probably damaging Het
Man1a2 A G 3: 100,499,216 (GRCm39) L406P probably damaging Het
Mapkap1 T C 2: 34,487,494 (GRCm39) F231L probably damaging Het
Mknk2 A G 10: 80,504,535 (GRCm39) Y256H probably damaging Het
Msh6 A G 17: 88,296,911 (GRCm39) T1203A probably damaging Het
Nbeal2 T C 9: 110,467,376 (GRCm39) Y604C probably damaging Het
Ncam1 G T 9: 49,479,781 (GRCm39) Q66K probably benign Het
Nsd2 T A 5: 34,040,263 (GRCm39) H933Q probably damaging Het
Or10h5 T A 17: 33,434,542 (GRCm39) I262F probably damaging Het
Or13p3 T C 4: 118,567,252 (GRCm39) V216A probably benign Het
Or2d3c A G 7: 106,525,797 (GRCm39) Y290H probably damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rassf6 C T 5: 90,751,797 (GRCm39) E308K probably damaging Het
Rb1 T C 14: 73,449,091 (GRCm39) T680A probably damaging Het
Rfpl4 T A 7: 5,113,852 (GRCm39) I104F probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnase6 A C 14: 51,367,974 (GRCm39) D122A probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sec31b G A 19: 44,531,792 (GRCm39) T39I possibly damaging Het
Slc12a1 A G 2: 125,015,601 (GRCm39) I385V probably damaging Het
Slc6a17 A T 3: 107,398,817 (GRCm39) Y261* probably null Het
Supt6 G A 11: 78,098,993 (GRCm39) P1626L possibly damaging Het
Tbx15 A G 3: 99,233,771 (GRCm39) probably benign Het
Telo2 A G 17: 25,329,792 (GRCm39) V240A probably benign Het
Trhr C T 15: 44,092,638 (GRCm39) L292F probably damaging Het
Trps1 G A 15: 50,695,126 (GRCm39) L340F possibly damaging Het
Ube2e1 T C 14: 18,284,429 (GRCm38) probably benign Het
Yeats2 T C 16: 20,032,151 (GRCm39) probably benign Het
Zbtb39 G A 10: 127,578,844 (GRCm39) E473K probably benign Het
Zfp235 T A 7: 23,840,387 (GRCm39) S269T possibly damaging Het
Zfp580 C A 7: 5,056,063 (GRCm39) P141Q possibly damaging 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
R2133:Helz UTSW 11 107,561,310 (GRCm39) missense unknown
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'- TGAAGTAGCCAACAGCCCAG -3'
(R):5'- CCTTTTATCAAGTGGGTAAACACG -3'

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