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)
|
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
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 |
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
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 |
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
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 |
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |