Incidental Mutation 'R7559:Helz'
ID 584968
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 045653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7559 (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 107491104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 162 (S162T)
Ref Sequence ENSEMBL: ENSMUSP00000074533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746]
AlphaFold Q6DFV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000075012
AA Change: S162T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: S162T

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
AA Change: S162T

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: S162T

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 possibly damaging
Transcript: ENSMUST00000106746
AA Change: S162T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: S162T

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
Meta Mutation Damage Score 0.0568 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C A 5: 139,265,295 (GRCm39) R206L probably damaging Het
Adcy3 A G 12: 4,248,440 (GRCm39) K501E probably benign Het
Agl T C 3: 116,545,764 (GRCm39) D679G Het
Ankrd10 A T 8: 11,662,548 (GRCm39) V395D probably damaging Het
Ano5 A G 7: 51,224,636 (GRCm39) I531V probably damaging Het
Apol9a T A 15: 77,288,761 (GRCm39) H202L possibly damaging Het
Atp6v1c2 A C 12: 17,351,215 (GRCm39) I105M probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Coro1b T C 19: 4,200,220 (GRCm39) probably null Het
D930020B18Rik A G 10: 121,492,131 (GRCm39) probably benign Het
Dcst2 T C 3: 89,276,021 (GRCm39) F384S possibly damaging Het
Ddx39a T A 8: 84,447,595 (GRCm39) F147I possibly damaging Het
Drosha A G 15: 12,842,508 (GRCm39) E393G probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fam20c G T 5: 138,778,954 (GRCm39) E287D possibly damaging Het
Flnc T A 6: 29,459,009 (GRCm39) D2463E probably damaging Het
Flt4 A T 11: 49,535,198 (GRCm39) I1209F possibly damaging Het
Foxp1 T C 6: 98,922,521 (GRCm39) D437G unknown Het
Fras1 T C 5: 96,888,713 (GRCm39) V2753A possibly damaging Het
Ftsj3 T C 11: 106,143,813 (GRCm39) D277G possibly damaging Het
Gad1 T C 2: 70,394,256 (GRCm39) probably null Het
Gal3st2c A G 1: 93,937,075 (GRCm39) Y340C probably damaging Het
Gbp9 A G 5: 105,232,975 (GRCm39) F226L probably damaging Het
Gm11992 C T 11: 9,002,747 (GRCm39) P37S possibly damaging Het
Gm19668 G T 10: 77,634,572 (GRCm39) C132* probably null Het
Hdac3 A T 18: 38,078,569 (GRCm39) F139I possibly damaging Het
Hectd4 A G 5: 121,453,573 (GRCm39) probably null Het
Hspb6 C A 7: 30,253,712 (GRCm39) S75Y probably damaging Het
Il17rb T A 14: 29,719,000 (GRCm39) I361F probably damaging Het
Iqsec3 A T 6: 121,364,739 (GRCm39) V850D probably damaging Het
Knl1 A G 2: 118,924,487 (GRCm39) E1840G possibly damaging Het
Lamc3 A G 2: 31,812,380 (GRCm39) K939R probably benign Het
Lmo7 C T 14: 102,124,662 (GRCm39) R496* probably null Het
Lsm14a A T 7: 34,052,826 (GRCm39) C374* probably null Het
Luc7l T C 17: 26,474,089 (GRCm39) L49P probably damaging Het
Mdga2 A C 12: 66,520,003 (GRCm39) C988G probably damaging Het
Mtf1 T C 4: 124,713,999 (GRCm39) V136A probably damaging Het
Myo7b T A 18: 32,116,413 (GRCm39) I1016F probably benign Het
Nadsyn1 C A 7: 143,361,804 (GRCm39) A306S probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Opcml A T 9: 28,814,620 (GRCm39) T291S probably benign Het
Or13a24 T A 7: 140,154,356 (GRCm39) C97S probably damaging Het
Or52u1 C A 7: 104,237,087 (GRCm39) H25Q probably damaging Het
Or56b1b C T 7: 108,164,763 (GRCm39) A80T probably damaging Het
Osbp2 C G 11: 3,662,493 (GRCm39) K196N probably damaging Het
Otoa T C 7: 120,743,149 (GRCm39) V792A probably damaging Het
Pcmtd1 A G 1: 7,239,766 (GRCm39) D245G probably damaging Het
Pcnx1 T C 12: 82,039,896 (GRCm39) V1428A unknown Het
Pik3r4 A G 9: 105,555,352 (GRCm39) H1103R probably benign Het
Pjvk C T 2: 76,486,154 (GRCm39) H185Y probably benign Het
Pkd1l3 T C 8: 110,351,072 (GRCm39) V639A probably benign Het
Pklr T C 3: 89,050,365 (GRCm39) S405P probably damaging Het
Pla2g12a T A 3: 129,672,569 (GRCm39) Y68N probably damaging Het
Proz A G 8: 13,113,455 (GRCm39) H92R probably benign Het
Sec23ip G T 7: 128,379,074 (GRCm39) V844F possibly damaging Het
Sema3f A G 9: 107,561,777 (GRCm39) V520A possibly damaging Het
Serpinb12 A G 1: 106,881,453 (GRCm39) I197V probably damaging Het
Sim2 A T 16: 93,910,218 (GRCm39) I207F possibly damaging Het
Slc15a2 C T 16: 36,572,259 (GRCm39) V702I probably benign Het
Slc35f4 T C 14: 49,541,732 (GRCm39) I341V probably benign Het
Spam1 A G 6: 24,800,452 (GRCm39) Y397C probably damaging Het
Spire1 A T 18: 67,634,187 (GRCm39) M417K probably benign Het
Srcap T C 7: 127,129,722 (GRCm39) S515P unknown Het
Tfrc T A 16: 32,440,235 (GRCm39) probably null Het
Topors A G 4: 40,261,401 (GRCm39) S628P unknown Het
Trim71 T C 9: 114,342,110 (GRCm39) Y724C probably damaging Het
Ttn C T 2: 76,623,199 (GRCm39) V15413I probably damaging Het
Vmn1r21 A T 6: 57,821,227 (GRCm39) N72K probably damaging Het
Vmn2r80 A T 10: 79,030,459 (GRCm39) M762L probably benign Het
Wdr62 A G 7: 29,970,198 (GRCm39) I203T 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
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
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'- GCTAATGGCCTCTGTCAACAG -3'
(R):5'- ATAATACCATGGGTTTGACGTTGAC -3'

Sequencing Primer
(F):5'- CTGTCAACAGAGAATTTAGCTGCTGG -3'
(R):5'- CTTCTGCTGCAAATAGGAAATAAGCC -3'
Posted On 2019-10-17