Incidental Mutation 'R8988:Helz'
ID 684247
Institutional Source Beutler Lab
Gene Symbol Helz
Ensembl Gene ENSMUSG00000020721
Gene Name helicase with zinc finger domain
Synonyms 3110078M01Rik, 9430093I07Rik, 9630002H22Rik
MMRRC Submission 068820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8988 (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 107495079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 351 (I351K)
Ref Sequence ENSEMBL: ENSMUSP00000074533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746]
AlphaFold Q6DFV5
Predicted Effect probably damaging
Transcript: ENSMUST00000075012
AA Change: I351K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: I351K

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: I351K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: I351K

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: I351K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: I351K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (81/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,489,251 (GRCm39) T291I probably benign Het
Aox1 A C 1: 58,088,625 (GRCm39) D137A possibly damaging Het
Apbb2 T C 5: 66,609,444 (GRCm39) K68E probably damaging Het
Arf3 A T 15: 98,638,933 (GRCm39) M108K probably benign Het
Atg2b T A 12: 105,583,388 (GRCm39) I2058F probably damaging Het
Bhlhe40 C T 6: 108,639,518 (GRCm39) L99F probably damaging Het
Cd200l1 T C 16: 45,238,271 (GRCm39) H294R probably benign Het
Cyp2b10 G A 7: 25,625,670 (GRCm39) R500H probably damaging Het
Dlc1 C T 8: 37,039,997 (GRCm39) E937K probably damaging Het
Dll3 A T 7: 27,995,793 (GRCm39) V336D possibly damaging Het
Dync2h1 A G 9: 7,037,727 (GRCm39) F3377L probably benign Het
Eef1d A G 15: 75,768,160 (GRCm39) Y561H probably damaging Het
Efcab3 T G 11: 104,911,352 (GRCm39) V4544G probably benign Het
Epb41l1 C A 2: 156,363,591 (GRCm39) T700K probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Ephb2 C A 4: 136,402,769 (GRCm39) G501C probably benign Het
Erbb3 T C 10: 128,406,030 (GRCm39) Y1129C probably damaging Het
Fbn1 C T 2: 125,212,726 (GRCm39) V799M possibly damaging Het
Fbxo9 G A 9: 77,991,933 (GRCm39) P353S probably benign Het
Ggt1 T G 10: 75,412,056 (GRCm39) V100G probably benign Het
Gm45861 T C 8: 28,032,531 (GRCm39) M885T unknown Het
Grin2d A T 7: 45,483,425 (GRCm39) Y917* probably null Het
Hectd4 T A 5: 121,415,819 (GRCm39) V540D possibly damaging Het
Ighv2-6-8 A G 12: 113,759,980 (GRCm39) V43A probably damaging Het
Igkv9-129 T A 6: 67,817,106 (GRCm39) I70N probably damaging Het
Il18 A T 9: 50,489,178 (GRCm39) D69V probably damaging Het
Kcnh7 T A 2: 62,552,209 (GRCm39) E927D Het
Kcnt2 T A 1: 140,356,587 (GRCm39) V342E probably benign Het
Khdc4 A G 3: 88,607,286 (GRCm39) N330S probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt18 C G 15: 101,937,962 (GRCm39) A153G probably damaging Het
Lmntd2 A T 7: 140,791,977 (GRCm39) probably benign Het
Lrrc26 G T 2: 25,180,286 (GRCm39) A96S probably benign Het
Map3k11 A T 19: 5,752,166 (GRCm39) S783C probably damaging Het
Mib2 G A 4: 155,740,729 (GRCm39) L632F possibly damaging Het
Mical2 A C 7: 111,910,661 (GRCm39) D277A possibly damaging Het
Mtr A T 13: 12,250,365 (GRCm39) F339L probably benign Het
Musk T C 4: 58,354,032 (GRCm39) F362L probably benign Het
Ncor1 G A 11: 62,233,871 (GRCm39) Q444* probably null Het
Nek4 T C 14: 30,685,924 (GRCm39) S279P Het
Nell1 C T 7: 50,210,543 (GRCm39) T348I unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nrip1 T C 16: 76,088,902 (GRCm39) H885R probably damaging Het
Or13a19 G A 7: 139,902,938 (GRCm39) G109R possibly damaging Het
Or2a5 T A 6: 42,874,201 (GRCm39) V272D Het
Or2y12 C A 11: 49,426,028 (GRCm39) N5K probably damaging Het
Or6c208 T C 10: 129,224,240 (GRCm39) V246A probably damaging Het
Or6c69c T A 10: 129,910,522 (GRCm39) V81D possibly damaging Het
Or6d14 A G 6: 116,534,255 (GRCm39) T290A possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
P3h3 C A 6: 124,834,564 (GRCm39) Q29H possibly damaging Het
Parn A G 16: 13,466,281 (GRCm39) probably null Het
Pcnt C A 10: 76,245,407 (GRCm39) E1077* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pigb A G 9: 72,929,576 (GRCm39) W336R probably damaging Het
Pkdrej A T 15: 85,700,538 (GRCm39) S1799R probably damaging Het
Pnpla6 G T 8: 3,567,401 (GRCm39) M86I possibly damaging Het
Prickle2 T C 6: 92,435,620 (GRCm39) K50E possibly damaging Het
Psg21 A G 7: 18,386,389 (GRCm39) V199A probably benign Het
Reep3 T C 10: 66,871,786 (GRCm39) probably null Het
Reln T C 5: 22,104,155 (GRCm39) D3272G probably damaging Het
Rps6ka4 A G 19: 6,808,667 (GRCm39) V526A possibly damaging Het
Sel1l3 T C 5: 53,280,771 (GRCm39) E911G probably damaging Het
Serpinb6b C A 13: 33,162,125 (GRCm39) A308E probably benign Het
Slc26a4 A G 12: 31,572,523 (GRCm39) V746A probably benign Het
Slc4a3 T G 1: 75,527,957 (GRCm39) M402R probably damaging Het
Slc9b1 A T 3: 135,078,900 (GRCm39) T186S possibly damaging Het
Slk A G 19: 47,608,712 (GRCm39) Q555R probably benign Het
Smc2 T A 4: 52,475,100 (GRCm39) D925E probably benign Het
Stat5a A T 11: 100,774,764 (GRCm39) T758S unknown Het
Sulf1 A G 1: 12,906,499 (GRCm39) S514G probably benign Het
Tcp11l1 T A 2: 104,536,853 (GRCm39) N4I probably damaging Het
Tex2 A T 11: 106,402,731 (GRCm39) I1047K unknown Het
Tmem184b A G 15: 79,261,264 (GRCm39) V114A possibly damaging Het
Trmt11 A G 10: 30,467,027 (GRCm39) V95A probably benign Het
Trp53bp2 A G 1: 182,268,433 (GRCm39) D169G possibly damaging Het
Ttc41 T A 10: 86,549,599 (GRCm39) N264K possibly damaging Het
Uba2 A C 7: 33,853,987 (GRCm39) S318R probably benign Het
Wapl T A 14: 34,451,139 (GRCm39) N724K probably damaging Het
Wfdc9 T A 2: 164,493,671 (GRCm39) I5F probably damaging Het
Zan C T 5: 137,406,563 (GRCm39) D3686N unknown Het
Zfp618 A T 4: 63,012,708 (GRCm39) Y140F probably benign Het
Zfp790 A G 7: 29,527,593 (GRCm39) T93A probably benign Het
Zfp979 A C 4: 147,697,984 (GRCm39) F242V 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
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
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
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'- GTAGCCTTGCTTTATGACGC -3'
(R):5'- GGCCATTACACAGTGAACATGTC -3'

Sequencing Primer
(F):5'- GTAGCCTTGCTTTATGACGCTCATC -3'
(R):5'- CACAGTGAACATGTCAGTTACCATGG -3'
Posted On 2021-10-11