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)
|
| 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
| 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: V996A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V996A
| 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: V996A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V996A
| 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: V315A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: V315A
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation