Incidental Mutation 'R4684:Helz'
ID 353541
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 9630002H22Rik, 3110078M01Rik, 9430093I07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 107547930-107693826 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107649145 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 315 (V315A)
Ref Sequence ENSEMBL: ENSMUSP00000117498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]
AlphaFold Q6DFV5
Predicted Effect probably damaging
Transcript: ENSMUST00000075012
AA Change: V997A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: V997A

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: V996A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V996A

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: V996A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V996A

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: V315A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: V315A

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: ENSMUST00000143634
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Adamts3 T G 5: 89,703,007 (GRCm38) T558P probably damaging Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Eps8l1 C A 7: 4,473,945 (GRCm38) P471Q probably damaging Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Mettl7b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Olfr347 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Olfr725 T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc15a2 T A 16: 36,757,849 (GRCm38) K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 (GRCm38) D649G probably benign Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Umodl1 T C 17: 30,998,114 (GRCm38) F1107L probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H probably benign Het
Other mutations in Helz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Helz APN 11 107,663,653 (GRCm38) missense possibly damaging 0.90
IGL01419:Helz APN 11 107,686,514 (GRCm38) missense unknown
IGL01864:Helz APN 11 107,602,354 (GRCm38) missense probably damaging 0.98
IGL01999:Helz APN 11 107,602,928 (GRCm38) splice site probably benign
IGL02938:Helz APN 11 107,686,438 (GRCm38) missense unknown
IGL03157:Helz APN 11 107,577,888 (GRCm38) missense possibly damaging 0.95
IGL03374:Helz APN 11 107,620,147 (GRCm38) missense probably damaging 0.98
R0058:Helz UTSW 11 107,672,558 (GRCm38) unclassified probably benign
R0058:Helz UTSW 11 107,672,558 (GRCm38) unclassified probably benign
R0112:Helz UTSW 11 107,672,948 (GRCm38) unclassified probably benign
R0243:Helz UTSW 11 107,637,914 (GRCm38) missense possibly damaging 0.85
R0328:Helz UTSW 11 107,604,348 (GRCm38) missense probably benign 0.30
R0578:Helz UTSW 11 107,686,400 (GRCm38) missense unknown
R0928:Helz UTSW 11 107,626,693 (GRCm38) missense probably damaging 0.99
R1428:Helz UTSW 11 107,592,840 (GRCm38) splice site probably benign
R1493:Helz UTSW 11 107,613,925 (GRCm38) missense probably benign 0.15
R1494:Helz UTSW 11 107,604,063 (GRCm38) splice site probably benign
R1541:Helz UTSW 11 107,670,048 (GRCm38) missense probably benign 0.39
R1619:Helz UTSW 11 107,636,279 (GRCm38) nonsense probably null
R1809:Helz UTSW 11 107,599,171 (GRCm38) missense possibly damaging 0.87
R1942:Helz UTSW 11 107,602,492 (GRCm38) missense probably benign 0.20
R2095:Helz UTSW 11 107,646,146 (GRCm38) missense probably damaging 1.00
R2133:Helz UTSW 11 107,670,484 (GRCm38) missense unknown
R2167:Helz UTSW 11 107,672,964 (GRCm38) unclassified probably benign
R2406:Helz UTSW 11 107,686,552 (GRCm38) missense unknown
R2571:Helz UTSW 11 107,613,952 (GRCm38) missense probably benign 0.05
R2858:Helz UTSW 11 107,672,927 (GRCm38) unclassified probably benign
R3927:Helz UTSW 11 107,685,292 (GRCm38) missense unknown
R4449:Helz UTSW 11 107,604,163 (GRCm38) missense probably benign 0.01
R4453:Helz UTSW 11 107,672,629 (GRCm38) nonsense probably null
R4583:Helz UTSW 11 107,646,069 (GRCm38) missense probably damaging 1.00
R4714:Helz UTSW 11 107,626,716 (GRCm38) critical splice donor site probably null
R4875:Helz UTSW 11 107,637,734 (GRCm38) intron probably benign
R4924:Helz UTSW 11 107,602,339 (GRCm38) missense probably damaging 1.00
R4930:Helz UTSW 11 107,620,168 (GRCm38) missense probably damaging 0.99
R5078:Helz UTSW 11 107,656,096 (GRCm38) missense probably damaging 1.00
R5446:Helz UTSW 11 107,632,204 (GRCm38) missense probably damaging 1.00
R5535:Helz UTSW 11 107,646,120 (GRCm38) missense probably damaging 0.98
R5650:Helz UTSW 11 107,595,146 (GRCm38) missense probably null 0.96
R5714:Helz UTSW 11 107,626,521 (GRCm38) splice site probably null
R5784:Helz UTSW 11 107,670,481 (GRCm38) missense unknown
R5998:Helz UTSW 11 107,685,534 (GRCm38) nonsense probably null
R6042:Helz UTSW 11 107,614,120 (GRCm38) critical splice donor site probably null
R6089:Helz UTSW 11 107,595,137 (GRCm38) critical splice acceptor site probably null
R6137:Helz UTSW 11 107,619,060 (GRCm38) missense possibly damaging 0.83
R6373:Helz UTSW 11 107,595,184 (GRCm38) missense probably benign 0.01
R6392:Helz UTSW 11 107,602,341 (GRCm38) missense possibly damaging 0.80
R6618:Helz UTSW 11 107,599,150 (GRCm38) missense probably benign 0.01
R6644:Helz UTSW 11 107,632,261 (GRCm38) missense possibly damaging 0.74
R6811:Helz UTSW 11 107,619,318 (GRCm38) critical splice donor site probably null
R6874:Helz UTSW 11 107,663,634 (GRCm38) missense probably damaging 0.97
R6911:Helz UTSW 11 107,619,225 (GRCm38) missense probably benign 0.01
R7039:Helz UTSW 11 107,619,318 (GRCm38) critical splice donor site probably null
R7061:Helz UTSW 11 107,649,177 (GRCm38) missense possibly damaging 0.83
R7438:Helz UTSW 11 107,662,030 (GRCm38) missense probably damaging 0.98
R7464:Helz UTSW 11 107,636,278 (GRCm38) missense probably damaging 1.00
R7513:Helz UTSW 11 107,656,115 (GRCm38) missense probably damaging 0.99
R7559:Helz UTSW 11 107,600,278 (GRCm38) missense possibly damaging 0.67
R7734:Helz UTSW 11 107,685,422 (GRCm38) missense unknown
R7780:Helz UTSW 11 107,637,863 (GRCm38) missense probably damaging 1.00
R7982:Helz UTSW 11 107,626,630 (GRCm38) missense possibly damaging 0.84
R8024:Helz UTSW 11 107,686,421 (GRCm38) missense unknown
R8181:Helz UTSW 11 107,672,573 (GRCm38) missense unknown
R8346:Helz UTSW 11 107,672,573 (GRCm38) missense unknown
R8729:Helz UTSW 11 107,637,928 (GRCm38) critical splice donor site probably null
R8807:Helz UTSW 11 107,603,009 (GRCm38) missense probably damaging 1.00
R8821:Helz UTSW 11 107,635,093 (GRCm38) missense probably damaging 0.99
R8891:Helz UTSW 11 107,662,016 (GRCm38) missense probably damaging 0.99
R8909:Helz UTSW 11 107,666,008 (GRCm38) missense possibly damaging 0.94
R8922:Helz UTSW 11 107,649,159 (GRCm38) missense possibly damaging 0.90
R8926:Helz UTSW 11 107,672,683 (GRCm38) missense unknown
R8988:Helz UTSW 11 107,604,253 (GRCm38) missense probably damaging 0.99
R9053:Helz UTSW 11 107,672,935 (GRCm38) missense unknown
R9056:Helz UTSW 11 107,656,193 (GRCm38) missense possibly damaging 0.84
R9099:Helz UTSW 11 107,632,215 (GRCm38) missense probably damaging 1.00
R9122:Helz UTSW 11 107,666,004 (GRCm38) missense probably benign 0.17
R9194:Helz UTSW 11 107,670,287 (GRCm38) nonsense probably null
R9220:Helz UTSW 11 107,670,047 (GRCm38) missense probably benign 0.11
R9223:Helz UTSW 11 107,619,092 (GRCm38) missense probably benign 0.17
R9242:Helz UTSW 11 107,632,327 (GRCm38) missense probably damaging 1.00
R9644:Helz UTSW 11 107,672,861 (GRCm38) missense unknown
R9761:Helz UTSW 11 107,670,048 (GRCm38) nonsense probably null
X0065:Helz UTSW 11 107,670,447 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAGCTGCATGTGGTTAGGATC -3'
(R):5'- ATTCACTGTGTGATGGTACAGAC -3'

Sequencing Primer
(F):5'- AGGATCTCTGGTGTCTCCAC -3'
(R):5'- AGATTCTCTCAGTTCAGTGACACAC -3'
Posted On 2015-10-21