Incidental Mutation 'R6089:Helz'
ID 484675
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 044246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6089 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 107485963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746]
AlphaFold Q6DFV5
Predicted Effect probably null
Transcript: ENSMUST00000075012
SMART Domains Protein: ENSMUSP00000074533
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: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 null
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 probably null
Transcript: ENSMUST00000106746
SMART Domains Protein: ENSMUSP00000102357
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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,335,132 (GRCm39) V95A probably damaging Het
Ankrd40 A T 11: 94,224,751 (GRCm39) K53N probably damaging Het
Ash1l C T 3: 88,960,450 (GRCm39) Q2338* probably null Het
Astn2 A G 4: 65,712,810 (GRCm39) F610S probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Btbd8 C T 5: 107,654,895 (GRCm39) A386V probably damaging Het
Calm4 A T 13: 3,887,874 (GRCm39) probably benign Het
Card10 T C 15: 78,686,614 (GRCm39) T68A probably benign Het
Cars2 A G 8: 11,580,301 (GRCm39) M245T probably damaging Het
Cat C A 2: 103,303,296 (GRCm39) L160F probably null Het
Cers5 G T 15: 99,638,883 (GRCm39) T144K probably benign Het
Cyp3a13 T A 5: 137,908,215 (GRCm39) L211F probably benign Het
Defb4 A T 8: 19,251,321 (GRCm39) R63* probably null Het
Dnah14 G T 1: 181,577,719 (GRCm39) W3012L probably damaging Het
Dusp18 A G 11: 3,847,555 (GRCm39) T182A probably benign Het
Dzip1l C A 9: 99,524,737 (GRCm39) T286K possibly damaging Het
Eif2ak3 A T 6: 70,873,918 (GRCm39) T944S possibly damaging Het
Fbn1 A T 2: 125,163,145 (GRCm39) I2119N possibly damaging Het
Gabbr2 A G 4: 46,846,448 (GRCm39) S154P probably damaging Het
Gm15440 A T 13: 51,845,437 (GRCm39) H107Q unknown Het
Grm2 G A 9: 106,531,090 (GRCm39) P133L probably damaging Het
Gsdme A G 6: 50,228,285 (GRCm39) V61A probably damaging Het
Gtpbp1 A G 15: 79,591,198 (GRCm39) T23A probably benign Het
Herc1 A C 9: 66,352,814 (GRCm39) H2100P probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ifngr1 T C 10: 19,482,048 (GRCm39) S213P probably benign Het
Itgb7 T C 15: 102,125,721 (GRCm39) D636G probably benign Het
Mre11a G A 9: 14,730,760 (GRCm39) D491N probably benign Het
Muc16 A G 9: 18,554,548 (GRCm39) L3915P unknown Het
Myh1 T A 11: 67,092,993 (GRCm39) probably null Het
Myh1 T G 11: 67,111,613 (GRCm39) probably null Het
Myh7b C T 2: 155,464,409 (GRCm39) T608M probably damaging Het
Myof T C 19: 37,955,508 (GRCm39) K23E probably benign Het
Nacad A G 11: 6,551,331 (GRCm39) V620A probably benign Het
Pbrm1 T C 14: 30,809,542 (GRCm39) Y1121H probably damaging Het
Pcdha9 T C 18: 37,131,551 (GRCm39) F207L probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Pigg A T 5: 108,489,788 (GRCm39) M798L probably benign Het
Poc5 G T 13: 96,533,179 (GRCm39) M102I probably damaging Het
Ppp2r3d T A 9: 101,088,835 (GRCm39) Q496L probably benign Het
Ptprf A G 4: 118,068,281 (GRCm39) Y1752H probably damaging Het
Ptpru G C 4: 131,499,941 (GRCm39) S1244R possibly damaging Het
Rnf213 A G 11: 119,307,385 (GRCm39) K682E probably benign Het
Rtp3 T C 9: 110,816,041 (GRCm39) D170G probably benign Het
Sall4 T C 2: 168,597,406 (GRCm39) D478G possibly damaging Het
Scai A T 2: 38,973,566 (GRCm39) Y58* probably null Het
Simc1 G A 13: 54,676,303 (GRCm39) V1007M probably benign Het
Tcf20 G T 15: 82,737,409 (GRCm39) D1347E probably benign Het
Tdo2 T C 3: 81,870,035 (GRCm39) Y279C probably damaging Het
Trdn C T 10: 33,340,571 (GRCm39) P602S probably benign Het
Txndc5 A T 13: 38,707,392 (GRCm39) M1K probably null Het
Ubr2 A C 17: 47,293,218 (GRCm39) M356R possibly damaging Het
Uqcrc2 A T 7: 120,253,232 (GRCm39) D332V probably damaging Het
Usp48 T C 4: 137,333,129 (GRCm39) F108L probably damaging Het
Vill A G 9: 118,886,867 (GRCm39) N4S probably benign Het
Vmn1r11 T C 6: 57,114,645 (GRCm39) V103A possibly damaging Het
Vmn2r98 A G 17: 19,286,336 (GRCm39) D278G probably benign Het
Vps35l T G 7: 118,345,658 (GRCm39) S59A possibly damaging Het
Wfdc15a A T 2: 164,041,586 (GRCm39) L79* probably null Het
Xxylt1 C T 16: 30,899,799 (GRCm39) V119M probably damaging Het
Zfp26 G T 9: 20,348,989 (GRCm39) A525D probably damaging Het
Zgrf1 G A 3: 127,389,642 (GRCm39) G396D probably damaging Het
Zkscan16 A G 4: 58,948,889 (GRCm39) D148G possibly damaging Het
Zscan26 G T 13: 21,632,499 (GRCm39) S77R probably 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
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
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'- TTTTAAGCTGGTACATCAGGGAG -3'
(R):5'- TCCAACCAGTTGCACAGAAGG -3'

Sequencing Primer
(F):5'- CTGGTACATCAGGGAGTGCAG -3'
(R):5'- ACAGAAGGCCCCCTTGTC -3'
Posted On 2017-08-16