Incidental Mutation 'R6874:Helz'
ID 536327
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 045029-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 107438756-107584652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107554460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1219 (R1219S)
Ref Sequence ENSEMBL: ENSMUSP00000102357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]
AlphaFold Q6DFV5
Predicted Effect probably damaging
Transcript: ENSMUST00000075012
AA Change: R1220S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: R1220S

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: R1219S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: R1219S

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: R1219S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: R1219S

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: R538S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: R538S

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,428 (GRCm39) D802G possibly damaging Het
Acsl5 A G 19: 55,280,295 (GRCm39) T523A probably damaging Het
Adamts7 A T 9: 90,070,784 (GRCm39) D635V probably damaging Het
Akr1c12 C A 13: 4,322,959 (GRCm39) G217C probably benign Het
Astn1 C A 1: 158,491,644 (GRCm39) S1007* probably null Het
Cntln T C 4: 84,985,996 (GRCm39) L988P probably damaging Het
Dcps A T 9: 35,087,263 (GRCm39) M1K probably null Het
Dnai1 T A 4: 41,632,412 (GRCm39) L582Q probably damaging Het
Dst A T 1: 34,328,732 (GRCm39) Q7118L probably benign Het
Ehd2 T A 7: 15,684,363 (GRCm39) T479S probably benign Het
Fbxl7 T C 15: 26,553,028 (GRCm39) I80V probably benign Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Gm12695 A T 4: 96,673,306 (GRCm39) I31K probably benign Het
Gm5591 T C 7: 38,219,715 (GRCm39) E386G probably damaging Het
Hes3 G T 4: 152,371,695 (GRCm39) P85T possibly damaging Het
Igkv3-2 A T 6: 70,675,822 (GRCm39) R44* probably null Het
Igsf9 A G 1: 172,322,096 (GRCm39) T496A probably benign Het
Irf2bp1 G T 7: 18,739,142 (GRCm39) A261S possibly damaging Het
Jph2 G A 2: 163,181,407 (GRCm39) P586S probably benign Het
Klhl11 T C 11: 100,363,031 (GRCm39) H175R probably benign Het
Ksr2 G T 5: 117,894,401 (GRCm39) E847* probably null Het
Lats1 T A 10: 7,586,615 (GRCm39) Y926N probably damaging Het
Lmbr1 A T 5: 29,497,904 (GRCm39) L33H probably damaging Het
Lrp10 T C 14: 54,705,670 (GRCm39) S287P possibly damaging Het
Map3k6 G A 4: 132,977,967 (GRCm39) E976K probably benign Het
Mfsd6 T A 1: 52,699,868 (GRCm39) D760V probably benign Het
Muc16 G T 9: 18,570,065 (GRCm39) S818* probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nagpa T C 16: 5,013,921 (GRCm39) T306A probably benign Het
Nisch G T 14: 30,898,641 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,298,964 (GRCm39) V1028A probably damaging Het
Nucb1 T C 7: 45,152,618 (GRCm39) N75S probably benign Het
Or11a4 T C 17: 37,536,238 (GRCm39) V74A probably benign Het
Or1e1d-ps1 T G 11: 73,819,068 (GRCm39) M6R probably null Het
Or51a43 T A 7: 103,717,396 (GRCm39) I281F possibly damaging Het
Or5h23 T A 16: 58,906,312 (GRCm39) Y178F probably benign Het
Or7g19 T A 9: 18,856,777 (GRCm39) Y278N possibly damaging Het
Or8b57 A G 9: 40,004,022 (GRCm39) V80A probably benign Het
Or8k24 C T 2: 86,215,872 (GRCm39) V297I possibly damaging Het
Pik3c2a A G 7: 115,993,540 (GRCm39) L409S probably damaging Het
Pkhd1l1 T A 15: 44,452,923 (GRCm39) D3949E probably benign Het
Prune2 C A 19: 17,100,592 (GRCm39) P2032Q probably damaging Het
Ptms T C 6: 124,891,194 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,595,259 (GRCm39) probably benign Het
Ptprq T C 10: 107,554,460 (GRCm39) I88M possibly damaging Het
Radil T A 5: 142,492,557 (GRCm39) D357V probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Supt20 A G 3: 54,635,175 (GRCm39) probably null Het
Thoc5 T C 11: 4,851,261 (GRCm39) I69T probably damaging Het
Trib2 G C 12: 15,865,338 (GRCm39) S79W probably damaging Het
Trpc6 A G 9: 8,680,439 (GRCm39) D889G probably damaging Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Vax1 A T 19: 59,156,955 (GRCm39) V126E unknown Het
Vgf A G 5: 137,060,386 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,012,376 (GRCm39) C746S probably damaging Het
Vmn2r77 A G 7: 86,451,286 (GRCm39) T391A probably benign Het
Zfp738 C A 13: 67,818,382 (GRCm39) E536D 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
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'- AGGGCATAATCGCAGTCCTG -3'
(R):5'- AACAAGTTCCCGAGGACTGTG -3'

Sequencing Primer
(F):5'- TGCCCATTGCTACTGTAGAG -3'
(R):5'- GAGGACTGTGACCTACCATTTCG -3'
Posted On 2018-10-18