Incidental Mutation 'R0112:Helz'
ID 20531
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 107563774 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: I1738T
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: I1738T

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: I1737T
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: I1737T

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 0.0594 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Dsg2 T A 18: 20,716,099 (GRCm39) F317I probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fes T C 7: 80,033,753 (GRCm39) D166G probably damaging Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Fndc3a A T 14: 72,777,935 (GRCm39) probably benign Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Ripk4 A G 16: 97,544,761 (GRCm39) C629R probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zfp811 C T 17: 33,016,738 (GRCm39) R434Q probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign 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
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
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'- ACAAGTTCAGCCTAGAAGTCCGCC -3'
(R):5'- TGTTTGCTCACAGCCAGCTAATCC -3'

Sequencing Primer
(F):5'- AGACCACAGTAGCCAGTTTG -3'
(R):5'- GCTAATCCCCAGACAGAAGAG -3'
Posted On 2013-04-11