Incidental Mutation 'R6911:Helz'
ID |
539041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helz
|
Ensembl Gene |
ENSMUSG00000020721 |
Gene Name |
helicase with zinc finger domain |
Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
MMRRC Submission |
045003-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6911 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
107438756-107584652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 107510051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 558
(T558I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075012]
[ENSMUST00000100305]
[ENSMUST00000106746]
|
AlphaFold |
Q6DFV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075012
AA Change: T558I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000074533 Gene: ENSMUSG00000020721 AA Change: T558I
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 benign
Transcript: ENSMUST00000100305
AA Change: T558I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000097878 Gene: ENSMUSG00000020721 AA Change: T558I
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 benign
Transcript: ENSMUST00000106746
AA Change: T558I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102357 Gene: ENSMUSG00000020721 AA Change: T558I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,948,068 (GRCm39) |
M655K |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,078,146 (GRCm39) |
F693I |
probably benign |
Het |
Amt |
G |
T |
9: 108,178,428 (GRCm39) |
|
probably null |
Het |
Anapc7 |
A |
T |
5: 122,578,343 (GRCm39) |
K443* |
probably null |
Het |
Apcs |
A |
G |
1: 172,721,752 (GRCm39) |
V198A |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,056,008 (GRCm39) |
V271A |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,159,179 (GRCm39) |
I459N |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 104,912,411 (GRCm39) |
I555T |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,563,497 (GRCm39) |
E810G |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,199,009 (GRCm39) |
D101G |
probably damaging |
Het |
Coq7 |
T |
A |
7: 118,109,385 (GRCm39) |
H221L |
unknown |
Het |
Depdc5 |
A |
T |
5: 33,081,536 (GRCm39) |
Q566L |
probably damaging |
Het |
Dync1i2 |
G |
A |
2: 71,077,446 (GRCm39) |
V233I |
probably benign |
Het |
Erp44 |
G |
T |
4: 48,204,268 (GRCm39) |
H298N |
probably benign |
Het |
Fam162a |
A |
G |
16: 35,866,747 (GRCm39) |
|
probably null |
Het |
Fancd2 |
A |
G |
6: 113,525,346 (GRCm39) |
E274G |
probably damaging |
Het |
Fkbp15 |
G |
T |
4: 62,258,527 (GRCm39) |
Q147K |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,885,152 (GRCm39) |
|
probably null |
Het |
Gfm1 |
T |
C |
3: 67,358,636 (GRCm39) |
V409A |
possibly damaging |
Het |
Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grid1 |
A |
T |
14: 34,542,185 (GRCm39) |
M1L |
probably benign |
Het |
Htra4 |
A |
G |
8: 25,515,721 (GRCm39) |
V439A |
probably damaging |
Het |
Kctd17 |
A |
G |
15: 78,318,206 (GRCm39) |
E95G |
probably damaging |
Het |
Kif18b |
T |
C |
11: 102,807,206 (GRCm39) |
D43G |
probably damaging |
Het |
Lrpprc |
G |
A |
17: 85,063,711 (GRCm39) |
S550L |
possibly damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,042,529 (GRCm39) |
C311* |
probably null |
Het |
Mcoln2 |
C |
T |
3: 145,898,011 (GRCm39) |
T44I |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,893,723 (GRCm39) |
T2010A |
possibly damaging |
Het |
Med23 |
C |
T |
10: 24,778,079 (GRCm39) |
T803M |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
Nktr |
C |
A |
9: 121,583,392 (GRCm39) |
Y93* |
probably null |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,007,029 (GRCm39) |
E210D |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,007,112 (GRCm39) |
A568E |
probably damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or2y1g |
A |
G |
11: 49,171,634 (GRCm39) |
I220V |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,618 (GRCm39) |
T23A |
probably benign |
Het |
Or5as1 |
T |
A |
2: 86,980,111 (GRCm39) |
K298I |
probably damaging |
Het |
Pdlim5 |
T |
C |
3: 142,010,076 (GRCm39) |
I289V |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Per1 |
C |
T |
11: 68,994,083 (GRCm39) |
T443M |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,297,956 (GRCm39) |
V1774A |
probably damaging |
Het |
Poteg |
A |
G |
8: 27,940,326 (GRCm39) |
Y165C |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,329,270 (GRCm39) |
T582A |
probably benign |
Het |
Psma5 |
A |
G |
3: 108,172,464 (GRCm39) |
E60G |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
T |
C |
13: 11,842,445 (GRCm39) |
N484S |
possibly damaging |
Het |
Sec31a |
A |
G |
5: 100,541,123 (GRCm39) |
I328T |
possibly damaging |
Het |
Slc12a2 |
G |
T |
18: 58,052,541 (GRCm39) |
V787L |
probably benign |
Het |
St14 |
C |
T |
9: 31,018,081 (GRCm39) |
R177Q |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tom1l1 |
G |
T |
11: 90,534,987 (GRCm39) |
|
probably null |
Het |
Ttf1 |
A |
G |
2: 28,954,863 (GRCm39) |
R76G |
probably benign |
Het |
Ube4a |
C |
T |
9: 44,854,056 (GRCm39) |
E581K |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,510,104 (GRCm39) |
V792A |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,208,819 (GRCm39) |
I430T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,741,544 (GRCm39) |
K10E |
possibly damaging |
Het |
Zfp451 |
T |
C |
1: 33,842,537 (GRCm39) |
|
probably benign |
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 |
|
R6874:Helz
|
UTSW |
11 |
107,554,460 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- TCATGCTCACTGGAGTTTCTG -3'
(R):5'- ACCAGCCAGGATGAGACTTC -3'
Sequencing Primer
(F):5'- AGTTTCTGGGGGTGCAAAG -3'
(R):5'- CAAAGTCACATGCATTCTGGTC -3'
|
Posted On |
2018-11-06 |