Incidental Mutation 'R7438:Helz'
| ID |
576761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz
|
| Ensembl Gene |
ENSMUSG00000020721 |
| Gene Name |
helicase with zinc finger domain |
| Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
| MMRRC Submission |
045514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7438 (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 107552856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1211
(P1211S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075012]
[ENSMUST00000100305]
[ENSMUST00000106746]
[ENSMUST00000133862]
|
| AlphaFold |
Q6DFV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075012
AA Change: P1211S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: P1211S
| 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: P1210S
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: P1210S
| 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: P1210S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: P1210S
| 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 |
possibly damaging
Transcript: ENSMUST00000133862
AA Change: P529S
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: P529S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (88/88) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,853,858 (GRCm39) |
S425G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,324,609 (GRCm39) |
I615T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,818 (GRCm39) |
I67N |
probably damaging |
Het |
| Asxl2 |
C |
T |
12: 3,477,108 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,260,014 (GRCm39) |
G607D |
|
Het |
| Atp2c2 |
G |
A |
8: 120,474,936 (GRCm39) |
V514M |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,468,082 (GRCm39) |
C311R |
possibly damaging |
Het |
| Becn1 |
A |
C |
11: 101,185,052 (GRCm39) |
S137R |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| C8a |
T |
C |
4: 104,718,626 (GRCm39) |
K110E |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,714 (GRCm39) |
|
probably null |
Het |
| Capn8 |
T |
A |
1: 182,426,240 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,508,512 (GRCm39) |
Q579* |
probably null |
Het |
| Cenpa |
G |
T |
5: 30,824,292 (GRCm39) |
|
probably benign |
Het |
| Cltc |
A |
G |
11: 86,616,054 (GRCm39) |
V404A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,802,710 (GRCm39) |
L261Q |
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,170,436 (GRCm39) |
S249R |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,155 (GRCm39) |
I2796F |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,673,222 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,347,098 (GRCm39) |
D2527V |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,685 (GRCm39) |
R767Q |
probably damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,338 (GRCm39) |
I118T |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,876,275 (GRCm39) |
F354S |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,899,778 (GRCm39) |
V3085A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,440,516 (GRCm39) |
D711G |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,267,503 (GRCm39) |
V318F |
probably benign |
Het |
| Gal3st1 |
C |
A |
11: 3,948,227 (GRCm39) |
H145N |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,302,038 (GRCm39) |
I667V |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,753,466 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,308,387 (GRCm39) |
T209I |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,485 (GRCm39) |
Y678H |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,095 (GRCm39) |
D109G |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,534,403 (GRCm39) |
V420A |
possibly damaging |
Het |
| Kcnk13 |
C |
A |
12: 100,027,985 (GRCm39) |
N353K |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,877,999 (GRCm39) |
F270L |
probably benign |
Het |
| Kit |
T |
A |
5: 75,799,660 (GRCm39) |
V464D |
probably benign |
Het |
| Klhl36 |
G |
A |
8: 120,596,914 (GRCm39) |
W205* |
probably null |
Het |
| Krt17 |
A |
G |
11: 100,149,291 (GRCm39) |
Y260H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,588,706 (GRCm39) |
Q1108* |
probably null |
Het |
| Lrch1 |
G |
A |
14: 74,994,477 (GRCm39) |
T709I |
possibly damaging |
Het |
| Lrrc58 |
C |
A |
16: 37,689,053 (GRCm39) |
Q66K |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,999,682 (GRCm39) |
A664T |
|
Het |
| Mtmr6 |
C |
T |
14: 60,537,753 (GRCm39) |
T546M |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,910,449 (GRCm39) |
F1288L |
probably damaging |
Het |
| Nwd1 |
G |
T |
8: 73,434,458 (GRCm39) |
V1352L |
probably benign |
Het |
| Or4k77 |
T |
A |
2: 111,199,707 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5ac17 |
A |
T |
16: 59,036,761 (GRCm39) |
C72S |
probably benign |
Het |
| Ovol3 |
C |
T |
7: 29,934,646 (GRCm39) |
|
probably null |
Het |
| Palb2 |
C |
A |
7: 121,716,554 (GRCm39) |
V843L |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,878 (GRCm39) |
|
probably null |
Het |
| Per1 |
A |
G |
11: 68,995,561 (GRCm39) |
S714G |
possibly damaging |
Het |
| Plch2 |
G |
A |
4: 155,084,917 (GRCm39) |
R442C |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,289,080 (GRCm39) |
S26R |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,115,378 (GRCm39) |
N834Y |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,382,130 (GRCm39) |
I189V |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,749,795 (GRCm39) |
W483* |
probably null |
Het |
| Rnd1 |
A |
T |
15: 98,571,782 (GRCm39) |
V88E |
probably damaging |
Het |
| Sbno2 |
T |
A |
10: 79,905,409 (GRCm39) |
T142S |
unknown |
Het |
| Scn9a |
C |
T |
2: 66,377,531 (GRCm39) |
V384M |
possibly damaging |
Het |
| Sertad4 |
T |
A |
1: 192,529,018 (GRCm39) |
H266L |
possibly damaging |
Het |
| Setd5 |
T |
A |
6: 113,092,043 (GRCm39) |
M288K |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,845,799 (GRCm39) |
N66Y |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,600 (GRCm39) |
Y10H |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,425 (GRCm39) |
N78I |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,480,748 (GRCm39) |
G200V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,795,116 (GRCm39) |
I477T |
unknown |
Het |
| Supv3l1 |
C |
T |
10: 62,266,249 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,062,337 (GRCm39) |
R4220G |
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,635,161 (GRCm39) |
H37L |
possibly damaging |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Tmem231 |
G |
T |
8: 112,645,040 (GRCm39) |
S155R |
probably damaging |
Het |
| Trem3 |
A |
G |
17: 48,565,498 (GRCm39) |
*184W |
probably null |
Het |
| Trim33 |
T |
A |
3: 103,253,956 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,943 (GRCm39) |
W233* |
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,774,605 (GRCm39) |
N286K |
probably damaging |
Het |
| Tulp4 |
A |
T |
17: 6,248,983 (GRCm39) |
M194L |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,553,345 (GRCm39) |
R906S |
possibly damaging |
Het |
| Ube3b |
A |
C |
5: 114,556,687 (GRCm39) |
D1006A |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,288,705 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,423,824 (GRCm39) |
I2692L |
unknown |
Het |
| Zfp142 |
C |
A |
1: 74,624,679 (GRCm39) |
E48D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,504 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,064 (GRCm39) |
N336S |
probably benign |
Het |
| Zfyve27 |
A |
T |
19: 42,177,959 (GRCm39) |
|
probably null |
Het |
| Zp3 |
T |
C |
5: 136,011,559 (GRCm39) |
S126P |
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 |
|
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 |
|
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 |
|
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'- TGTCCAGGTCAATGTGTACAGC -3'
(R):5'- ACTTTATGGATGCTAGAGAGGC -3'
Sequencing Primer
(F):5'- CCAGGTCAATGTGTACAGCTATTGAG -3'
(R):5'- GGCAAAAATAAAATAAAAGCACGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation