Incidental Mutation 'R6137:Helz'
ID |
488417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helz
|
Ensembl Gene |
ENSMUSG00000020721 |
Gene Name |
helicase with zinc finger domain |
Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
MMRRC Submission |
044284-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6137 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
107438756-107584652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107509886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 503
(Q503R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075012]
[ENSMUST00000100305]
[ENSMUST00000106746]
|
AlphaFold |
Q6DFV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075012
AA Change: Q503R
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074533 Gene: ENSMUSG00000020721 AA Change: Q503R
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000100305
AA Change: Q503R
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000097878 Gene: ENSMUSG00000020721 AA Change: Q503R
Domain | Start | End | E-Value | Type |
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: Q503R
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102357 Gene: ENSMUSG00000020721 AA Change: Q503R
Domain | Start | End | E-Value | Type |
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 |
0.0896 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (58/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
G |
T |
7: 130,959,342 (GRCm39) |
H165Q |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,327,164 (GRCm39) |
F721Y |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,137 (GRCm39) |
D1517V |
probably damaging |
Het |
Amigo3 |
T |
A |
9: 107,930,927 (GRCm39) |
S117T |
probably damaging |
Het |
Atf7ip2 |
T |
A |
16: 10,019,275 (GRCm39) |
N34K |
probably damaging |
Het |
Cacnb1 |
A |
C |
11: 97,896,608 (GRCm39) |
V351G |
probably damaging |
Het |
Casp9 |
T |
A |
4: 141,532,660 (GRCm39) |
|
probably null |
Het |
Ccdc51 |
C |
T |
9: 108,918,483 (GRCm39) |
T24I |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,270,291 (GRCm39) |
Y618F |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,978,950 (GRCm39) |
W1271R |
probably damaging |
Het |
Dars1 |
T |
C |
1: 128,296,176 (GRCm39) |
T386A |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,414,313 (GRCm39) |
D834V |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,103 (GRCm39) |
V933E |
possibly damaging |
Het |
Dnah17 |
A |
G |
11: 117,916,480 (GRCm39) |
F4203S |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,177,156 (GRCm39) |
L2000P |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,316,097 (GRCm39) |
H444Q |
probably benign |
Het |
Fbxw14 |
T |
A |
9: 109,105,290 (GRCm39) |
T292S |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,431,055 (GRCm39) |
S237P |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,341,676 (GRCm39) |
I1323T |
probably benign |
Het |
Grin2a |
A |
G |
16: 9,471,313 (GRCm39) |
F652L |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,900,456 (GRCm39) |
M142L |
possibly damaging |
Het |
Ighv5-17 |
A |
G |
12: 113,822,915 (GRCm39) |
Y69H |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,452,543 (GRCm39) |
N242S |
probably benign |
Het |
Immp1l |
G |
C |
2: 105,794,553 (GRCm39) |
G117A |
probably damaging |
Het |
Itm2c |
T |
C |
1: 85,822,413 (GRCm39) |
V10A |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,322,883 (GRCm39) |
K679E |
possibly damaging |
Het |
Kng1 |
T |
C |
16: 22,893,395 (GRCm39) |
V256A |
possibly damaging |
Het |
Lamc2 |
T |
G |
1: 153,041,899 (GRCm39) |
R78S |
possibly damaging |
Het |
Loxl4 |
A |
G |
19: 42,587,232 (GRCm39) |
F621S |
probably damaging |
Het |
Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
Lypd3 |
T |
C |
7: 24,339,919 (GRCm39) |
Y329H |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,363,455 (GRCm39) |
D225G |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,133,027 (GRCm39) |
F441L |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,472,864 (GRCm39) |
M699L |
possibly damaging |
Het |
Nr1h3 |
A |
T |
2: 91,022,196 (GRCm39) |
M144K |
probably damaging |
Het |
Or2t46 |
A |
T |
11: 58,471,894 (GRCm39) |
M75L |
probably benign |
Het |
Or5al6 |
A |
G |
2: 85,976,313 (GRCm39) |
V255A |
probably benign |
Het |
Or6z6 |
T |
C |
7: 6,491,844 (GRCm39) |
T3A |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,699,113 (GRCm39) |
Y667N |
probably damaging |
Het |
Prps1l3 |
A |
G |
12: 57,285,674 (GRCm39) |
I155V |
probably benign |
Het |
Ptgs2 |
T |
A |
1: 149,976,744 (GRCm39) |
N24K |
probably benign |
Het |
Ralgds |
A |
T |
2: 28,437,600 (GRCm39) |
M514L |
probably damaging |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,398,070 (GRCm39) |
V254D |
probably damaging |
Het |
Selenot |
A |
T |
3: 58,492,705 (GRCm39) |
Q64L |
probably damaging |
Het |
Sgsm2 |
G |
A |
11: 74,741,677 (GRCm39) |
R1037W |
probably damaging |
Het |
Slc22a12 |
A |
G |
19: 6,592,754 (GRCm39) |
V10A |
probably benign |
Het |
Spem2 |
G |
T |
11: 69,707,522 (GRCm39) |
S481* |
probably null |
Het |
Styk1 |
C |
T |
6: 131,287,979 (GRCm39) |
G128D |
probably damaging |
Het |
Tex54 |
A |
T |
19: 8,718,148 (GRCm39) |
D6V |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,667,154 (GRCm39) |
L148Q |
probably damaging |
Het |
Tmem138 |
A |
C |
19: 10,552,199 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,555,267 (GRCm39) |
V772A |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,626,821 (GRCm39) |
F1483S |
possibly damaging |
Het |
Tuba4a |
C |
A |
1: 75,192,699 (GRCm39) |
C305F |
probably damaging |
Het |
Ubap1 |
T |
G |
4: 41,379,262 (GRCm39) |
F159V |
possibly damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,996,882 (GRCm39) |
I129T |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,309,298 (GRCm39) |
M828K |
unknown |
Het |
Zfp236 |
A |
T |
18: 82,689,919 (GRCm39) |
S187T |
possibly damaging |
Het |
|
Other mutations in Helz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGCTAACTTGTACAGTGTGGAATTG -3'
(R):5'- TCACAGCATTCCCTGGATATC -3'
Sequencing Primer
(F):5'- ACTTGTACAGTGTGGAATTGATAGAG -3'
(R):5'- CGAGCTTCTCTTTAGGGAC -3'
|
Posted On |
2017-10-10 |