Incidental Mutation 'R7780:Helz'
ID 599180
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 045836-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7780 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107528689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 903 (F903Y)
Ref Sequence ENSEMBL: ENSMUSP00000074533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]
AlphaFold Q6DFV5
Predicted Effect probably damaging
Transcript: ENSMUST00000075012
AA Change: F903Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: F903Y

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 damaging
Transcript: ENSMUST00000100305
AA Change: F902Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: F902Y

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 damaging
Transcript: ENSMUST00000106746
AA Change: F902Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: F902Y

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 damaging
Transcript: ENSMUST00000133862
AA Change: F221Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: F221Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,294,432 (GRCm39) R389K possibly damaging Het
Ahnak2 C T 12: 112,746,716 (GRCm39) V1205M Het
Ccr3 A G 9: 123,828,989 (GRCm39) Y108C probably benign Het
Cers5 T G 15: 99,637,589 (GRCm39) H220P probably damaging Het
Cfap61 A T 2: 145,995,692 (GRCm39) N1086Y possibly damaging Het
Cip2a T A 16: 48,822,023 (GRCm39) L217* probably null Het
Clstn3 T C 6: 124,439,161 (GRCm39) E32G probably damaging Het
Cox20 T C 1: 178,149,566 (GRCm39) C72R probably benign Het
Csf1 A T 3: 107,657,709 (GRCm39) N154K probably damaging Het
Cyp2j7 T A 4: 96,118,256 (GRCm39) K112N probably benign Het
Drosha A G 15: 12,848,172 (GRCm39) D488G probably benign Het
Edem1 A G 6: 108,818,589 (GRCm39) K199R probably benign Het
Esyt2 T C 12: 116,305,718 (GRCm39) I316T probably benign Het
Evpl C T 11: 116,125,000 (GRCm39) R154H not run Het
Fbn1 A G 2: 125,143,678 (GRCm39) L2817P probably benign Het
Fbxo42 T A 4: 140,921,131 (GRCm39) probably null Het
Fbxo43 T C 15: 36,162,358 (GRCm39) D283G probably damaging Het
Fdxr A T 11: 115,167,656 (GRCm39) S20T probably benign Het
Fkbp10 T C 11: 100,312,048 (GRCm39) Y203H probably damaging Het
Galntl6 C T 8: 58,880,733 (GRCm39) probably null Het
Gask1b G A 3: 79,848,711 (GRCm39) G486S probably damaging Het
Gm26657 C A 4: 56,741,056 (GRCm39) Y80* probably null Het
Gm973 T A 1: 59,597,289 (GRCm39) W440R probably damaging Het
Iqcf4 T A 9: 106,445,860 (GRCm39) I96F possibly damaging Het
Kcnq5 T A 1: 22,031,555 (GRCm39) Q84L probably benign Het
Krit1 G A 5: 3,862,772 (GRCm39) G254S probably damaging Het
Krtap6-2 A T 16: 89,216,510 (GRCm39) Y152* probably null Het
Loricrin A T 3: 91,988,460 (GRCm39) Y275* probably null Het
Map4 T C 9: 109,863,720 (GRCm39) I315T probably benign Het
Mcpt1 T A 14: 56,256,609 (GRCm39) probably null Het
Mdh1b C A 1: 63,759,133 (GRCm39) S153I possibly damaging Het
Mfsd12 C A 10: 81,193,718 (GRCm39) A96E probably benign Het
Mki67 T C 7: 135,315,697 (GRCm39) E55G probably benign Het
Mterf4 T C 1: 93,232,689 (GRCm39) E54G probably benign Het
Mucl3 A G 17: 35,947,874 (GRCm39) S452P possibly damaging Het
Nuggc T A 14: 65,882,490 (GRCm39) I745N probably damaging Het
Or6k6 T C 1: 173,945,115 (GRCm39) I156V probably benign Het
Or7g18 A G 9: 18,786,910 (GRCm39) T93A possibly damaging Het
Parg A T 14: 31,930,758 (GRCm39) N126I possibly damaging Het
Pcdh9 T C 14: 94,123,987 (GRCm39) I728V possibly damaging Het
Pcdha1 C G 18: 37,065,511 (GRCm39) P725R probably benign Het
Pcdha11 T A 18: 37,145,849 (GRCm39) L647M probably damaging Het
Phb2 T C 6: 124,692,995 (GRCm39) probably null Het
Plb1 A G 5: 32,483,610 (GRCm39) probably null Het
Pmch T A 10: 87,927,113 (GRCm39) F39I probably benign Het
Psmd7 A T 8: 108,307,920 (GRCm39) S188T possibly damaging Het
Pycr2 T A 1: 180,733,913 (GRCm39) D168E probably damaging Het
Rab43 A G 6: 87,771,692 (GRCm39) Y96H probably damaging Het
Ralgapa2 C T 2: 146,184,334 (GRCm39) G1511S probably benign Het
Rb1cc1 T A 1: 6,319,138 (GRCm39) C852* probably null Het
Rexo2 T C 9: 48,380,145 (GRCm39) N229S probably damaging Het
Sema4f A G 6: 82,890,941 (GRCm39) V622A possibly damaging Het
Serpina10 T C 12: 103,594,806 (GRCm39) S138G probably benign Het
Sptbn4 T A 7: 27,061,059 (GRCm39) T2415S possibly damaging Het
Tbc1d22b A G 17: 29,792,040 (GRCm39) N257D probably benign Het
Tbl3 A G 17: 24,921,205 (GRCm39) F529L probably damaging Het
Them6 A T 15: 74,593,427 (GRCm39) N95I probably benign Het
Thrb T C 14: 18,008,608 (GRCm38) S156P possibly damaging Het
Tmem186 G A 16: 8,453,731 (GRCm39) R177C probably benign Het
Ttn T A 2: 76,660,937 (GRCm39) probably null Het
Unc13a T A 8: 72,110,979 (GRCm39) I411F probably benign Het
Uqcc1 T C 2: 155,752,073 (GRCm39) probably null Het
Vmn1r56 T C 7: 5,199,516 (GRCm39) T34A possibly damaging Het
Vps39 A T 2: 120,155,680 (GRCm39) Y542* probably null Het
Wdr64 T C 1: 175,556,542 (GRCm39) L263P probably damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Wfdc16 A G 2: 164,477,785 (GRCm39) M88T probably benign Het
Wnk4 A G 11: 101,160,403 (GRCm39) D679G probably damaging Het
Ykt6 T C 11: 5,912,751 (GRCm39) I151T probably benign Het
Zbtb46 A G 2: 181,033,225 (GRCm39) C479R probably damaging Het
Zc3h7a A G 16: 10,967,115 (GRCm39) I559T probably benign Het
Zfhx3 A G 8: 109,678,283 (GRCm39) N3111S possibly damaging Het
Zfp619 T C 7: 39,184,432 (GRCm39) V154A possibly damaging Het
Zfp629 A T 7: 127,211,601 (GRCm39) D69E probably benign Het
Zfp882 T A 8: 72,668,073 (GRCm39) I300N possibly damaging Het
Zfp934 T C 13: 62,666,358 (GRCm39) H106R possibly damaging Het
Zfta T C 19: 7,399,737 (GRCm39) S495P probably damaging Het
Zfyve9 G A 4: 108,576,298 (GRCm39) T261I 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
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
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'- TGGCGTCACAGGTATTCAGTG -3'
(R):5'- CGTTGGCTTTTCTTAACAAAGTTGC -3'

Sequencing Primer
(F):5'- CACAGGTATTCAGTGTTGGGAC -3'
(R):5'- GTTGCATTTTCTGTTTTAACATTGC -3'
Posted On 2019-11-26