Incidental Mutation 'R4930:Helz'
| ID |
381178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz
|
| Ensembl Gene |
ENSMUSG00000020721 |
| Gene Name |
helicase with zinc finger domain |
| Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
| MMRRC Submission |
042531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4930 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107438756-107584652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107510994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 617
(F617L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075012]
[ENSMUST00000100305]
[ENSMUST00000106746]
|
| AlphaFold |
Q6DFV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075012
AA Change: F617L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: F617L
| 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: F617L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: F617L
| 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: F617L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: F617L
| 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 |
0.4846 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
99% (88/89) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
T |
12: 72,953,008 (GRCm39) |
E242K |
possibly damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,370,263 (GRCm39) |
M499T |
possibly damaging |
Het |
| Abcb8 |
G |
A |
5: 24,605,779 (GRCm39) |
V196M |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,988,331 (GRCm39) |
M3205T |
possibly damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,092,433 (GRCm39) |
Y265H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,965,024 (GRCm39) |
S446P |
probably benign |
Het |
| Apip |
C |
A |
2: 102,922,226 (GRCm39) |
Y197* |
probably null |
Het |
| Arhgef11 |
T |
G |
3: 87,635,901 (GRCm39) |
V925G |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,362,062 (GRCm39) |
V929A |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,030,306 (GRCm39) |
D122V |
probably benign |
Het |
| B2m |
A |
T |
2: 121,982,128 (GRCm39) |
D116V |
possibly damaging |
Het |
| Bhmt-ps1 |
A |
G |
4: 26,369,184 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1g |
T |
A |
11: 94,334,899 (GRCm39) |
I803F |
probably damaging |
Het |
| Ccdc43 |
A |
T |
11: 102,581,111 (GRCm39) |
V113E |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,772,238 (GRCm39) |
Y388* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,245,034 (GRCm39) |
|
probably benign |
Het |
| Chil3 |
C |
T |
3: 106,071,524 (GRCm39) |
D47N |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,375,710 (GRCm39) |
T361A |
possibly damaging |
Het |
| Cops3 |
C |
A |
11: 59,726,193 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
G |
T |
2: 37,673,326 (GRCm39) |
G74V |
probably damaging |
Het |
| Cspg4b |
G |
T |
13: 113,464,196 (GRCm39) |
G1453C |
probably damaging |
Het |
| Cyp20a1 |
A |
T |
1: 60,405,878 (GRCm39) |
Y224F |
probably damaging |
Het |
| Diaph3 |
A |
G |
14: 87,378,602 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,550,904 (GRCm39) |
Y3127* |
probably null |
Het |
| Eef1akmt3 |
A |
C |
10: 126,877,224 (GRCm39) |
S14A |
possibly damaging |
Het |
| Ehf |
C |
A |
2: 103,097,202 (GRCm39) |
R250L |
probably damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,463,915 (GRCm39) |
R13Q |
possibly damaging |
Het |
| Frem2 |
A |
C |
3: 53,563,736 (GRCm39) |
V257G |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,587,448 (GRCm39) |
T259A |
probably benign |
Het |
| Gm4952 |
A |
T |
19: 12,604,376 (GRCm39) |
N263Y |
probably benign |
Het |
| Gpcpd1 |
T |
A |
2: 132,388,794 (GRCm39) |
H326L |
probably damaging |
Het |
| Hoxb4 |
T |
C |
11: 96,209,662 (GRCm39) |
Y23H |
probably damaging |
Het |
| Hsf4 |
T |
A |
8: 105,999,330 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
T |
6: 38,368,475 (GRCm39) |
Y174F |
probably damaging |
Het |
| Ighv1-81 |
T |
C |
12: 115,883,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Irx4 |
T |
C |
13: 73,417,032 (GRCm39) |
V476A |
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,823,922 (GRCm39) |
|
probably null |
Het |
| L3mbtl1 |
A |
G |
2: 162,807,692 (GRCm39) |
Y490C |
probably damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,806 (GRCm39) |
|
probably null |
Het |
| Lrrc38 |
A |
T |
4: 143,096,438 (GRCm39) |
T250S |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,215 (GRCm39) |
Y34* |
probably null |
Het |
| Mgst1 |
T |
A |
6: 138,130,507 (GRCm39) |
F79I |
probably benign |
Het |
| Midn |
T |
C |
10: 79,991,189 (GRCm39) |
S357P |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,447,640 (GRCm39) |
D208E |
probably benign |
Het |
| Mrps26 |
A |
G |
2: 130,406,862 (GRCm39) |
E163G |
probably damaging |
Het |
| Mycbpap |
A |
T |
11: 94,393,983 (GRCm39) |
M371K |
probably benign |
Het |
| Mynn |
A |
C |
3: 30,661,191 (GRCm39) |
N91T |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,177,265 (GRCm39) |
L292P |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,684,596 (GRCm39) |
R1228W |
probably damaging |
Het |
| Nphs2 |
T |
C |
1: 156,148,499 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or1f19 |
T |
G |
16: 3,410,299 (GRCm39) |
L13R |
probably damaging |
Het |
| Or4p7 |
G |
A |
2: 88,222,284 (GRCm39) |
R231H |
probably benign |
Het |
| Or5ac22 |
C |
A |
16: 59,135,236 (GRCm39) |
C178F |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,237 (GRCm39) |
I147N |
probably benign |
Het |
| Or5d38 |
A |
C |
2: 87,954,684 (GRCm39) |
I215S |
probably benign |
Het |
| Or7e176 |
T |
C |
9: 20,171,313 (GRCm39) |
I59T |
probably damaging |
Het |
| Or9q2 |
T |
C |
19: 13,772,915 (GRCm39) |
H20R |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,808,542 (GRCm39) |
T308M |
probably damaging |
Het |
| Prdx6 |
C |
T |
1: 161,069,263 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,615,579 (GRCm39) |
D862E |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,343,814 (GRCm39) |
Y344C |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,344,291 (GRCm39) |
M43V |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,655 (GRCm39) |
N1747S |
probably benign |
Het |
| Rps27 |
A |
G |
3: 90,120,306 (GRCm39) |
V22A |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,044,236 (GRCm39) |
V86A |
possibly damaging |
Het |
| Spdef |
A |
G |
17: 27,937,136 (GRCm39) |
Y156H |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,009,784 (GRCm39) |
E433D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,326 (GRCm39) |
F506L |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,636,610 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,002,777 (GRCm39) |
R8046Q |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 120,021,090 (GRCm39) |
S365R |
probably benign |
Het |
| Terb1 |
G |
T |
8: 105,174,580 (GRCm39) |
P698Q |
probably benign |
Het |
| Tmbim7 |
T |
A |
5: 3,711,948 (GRCm39) |
Y27* |
probably null |
Het |
| Tmem106c |
C |
A |
15: 97,862,909 (GRCm39) |
A60E |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,720,609 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,562,714 (GRCm39) |
I28747V |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,083,148 (GRCm39) |
|
probably null |
Het |
| Wdr81 |
T |
C |
11: 75,342,750 (GRCm39) |
D839G |
probably benign |
Het |
| Wfdc15a |
G |
C |
2: 164,041,725 (GRCm39) |
Q33E |
probably benign |
Het |
| Zfp456 |
T |
C |
13: 67,515,065 (GRCm39) |
R214G |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,164 (GRCm39) |
Y137F |
probably 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 |
|
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 |
|
|
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'- CCTGCAGAAGGTTGTCTCCATG -3'
(R):5'- CATAGGCTTGAGCTCAGGATAC -3'
Sequencing Primer
(F):5'- CCATGAAGTATTTAGTGGTACTCCTG -3'
(R):5'- TGCCACAAGTTCCAGGTTAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation