Incidental Mutation 'R7464:Helz'
| ID |
578657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz
|
| Ensembl Gene |
ENSMUSG00000020721 |
| Gene Name |
helicase with zinc finger domain |
| Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
| MMRRC Submission |
045538-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107438756-107584652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107527104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 864
(C864Y)
|
| 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: C864Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: C864Y
| 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: C863Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: C863Y
| 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: C863Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: C863Y
| 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: C182Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: C182Y
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (79/82) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
T |
6: 23,077,152 (GRCm39) |
G736R |
possibly damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Ankar |
A |
T |
1: 72,738,053 (GRCm39) |
V43E |
possibly damaging |
Het |
| Apof |
A |
G |
10: 128,105,505 (GRCm39) |
I220V |
probably benign |
Het |
| Asxl1 |
G |
T |
2: 153,239,705 (GRCm39) |
A499S |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,957,942 (GRCm39) |
D1069E |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,807,792 (GRCm39) |
T156A |
possibly damaging |
Het |
| Bbc3 |
A |
T |
7: 16,051,082 (GRCm39) |
R169W |
unknown |
Het |
| C5ar1 |
T |
A |
7: 15,982,691 (GRCm39) |
I110L |
probably benign |
Het |
| Cd19 |
C |
A |
7: 126,010,975 (GRCm39) |
R323L |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,344,489 (GRCm39) |
C113* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,980,811 (GRCm39) |
W914L |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,379,895 (GRCm39) |
K445E |
probably damaging |
Het |
| Crebrf |
A |
G |
17: 26,982,461 (GRCm39) |
M608V |
unknown |
Het |
| Csf1 |
T |
A |
3: 107,656,191 (GRCm39) |
H280L |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,233,357 (GRCm39) |
R113L |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,129 (GRCm39) |
H1089Y |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,393,708 (GRCm39) |
T48M |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,910 (GRCm39) |
S45T |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,032 (GRCm39) |
D1315G |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,586,105 (GRCm39) |
N526H |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,480,999 (GRCm39) |
*268Q |
probably null |
Het |
| Emc8 |
A |
G |
8: 121,394,657 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Fam162a |
A |
G |
16: 35,891,863 (GRCm39) |
L4P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw10 |
T |
A |
11: 62,744,124 (GRCm39) |
I307N |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,268,619 (GRCm39) |
V257A |
possibly damaging |
Het |
| Fer1l6 |
T |
A |
15: 58,445,096 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
A |
G |
8: 58,037,054 (GRCm39) |
Y112H |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,356,326 (GRCm39) |
I803T |
unknown |
Het |
| Gm28729 |
A |
G |
9: 96,403,288 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gm5447 |
A |
G |
13: 31,158,377 (GRCm39) |
I34V |
not run |
Het |
| H2-M9 |
A |
T |
17: 36,953,303 (GRCm39) |
|
probably null |
Het |
| Il25 |
A |
G |
14: 55,170,679 (GRCm39) |
Y84C |
probably null |
Het |
| Itga10 |
T |
A |
3: 96,555,471 (GRCm39) |
C142S |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,101,395 (GRCm39) |
M9L |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,775,863 (GRCm39) |
Q232K |
possibly damaging |
Het |
| Mb21d2 |
T |
G |
16: 28,748,298 (GRCm39) |
I40L |
possibly damaging |
Het |
| Mdm1 |
T |
C |
10: 117,988,171 (GRCm39) |
S334P |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,175,090 (GRCm39) |
D549E |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,162,482 (GRCm39) |
V648A |
probably benign |
Het |
| Nars2 |
A |
G |
7: 96,689,137 (GRCm39) |
K353R |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,512,647 (GRCm39) |
M138L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,083,902 (GRCm39) |
T5635A |
probably benign |
Het |
| Nktr |
A |
C |
9: 121,579,393 (GRCm39) |
I1154L |
unknown |
Het |
| Or14j8 |
A |
T |
17: 38,263,171 (GRCm39) |
V248D |
probably damaging |
Het |
| Or2a57 |
T |
G |
6: 43,213,228 (GRCm39) |
S229A |
probably damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,543 (GRCm39) |
L66Q |
probably damaging |
Het |
| Oxld1 |
T |
C |
11: 120,347,963 (GRCm39) |
D78G |
probably benign |
Het |
| Pde1b |
T |
C |
15: 103,433,256 (GRCm39) |
I255T |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,138,481 (GRCm39) |
F244I |
probably benign |
Het |
| Polg2 |
C |
A |
11: 106,664,540 (GRCm39) |
V305L |
probably benign |
Het |
| Pramel34 |
C |
T |
5: 93,784,099 (GRCm39) |
C455Y |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Sash1 |
T |
C |
10: 8,632,509 (GRCm39) |
D242G |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,159,304 (GRCm39) |
T219A |
possibly damaging |
Het |
| Slc28a3 |
A |
C |
13: 58,710,835 (GRCm39) |
Y562* |
probably null |
Het |
| Soat1 |
A |
T |
1: 156,266,887 (GRCm39) |
W310R |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,740,671 (GRCm39) |
N30D |
probably benign |
Het |
| Spopfm2 |
A |
T |
3: 94,083,411 (GRCm39) |
N133K |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,057,075 (GRCm39) |
I270N |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,404,589 (GRCm39) |
W289R |
probably damaging |
Het |
| Stx5a |
T |
A |
19: 8,720,868 (GRCm39) |
|
probably benign |
Het |
| Tacc1 |
T |
C |
8: 25,654,480 (GRCm39) |
D689G |
probably damaging |
Het |
| Tacc3 |
A |
G |
5: 33,818,628 (GRCm39) |
D21G |
probably benign |
Het |
| Tapt1 |
G |
A |
5: 44,346,030 (GRCm39) |
R307* |
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,022,312 (GRCm39) |
V16E |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,971 (GRCm39) |
R225K |
probably benign |
Het |
| Thumpd3 |
G |
A |
6: 113,032,730 (GRCm39) |
G156D |
probably benign |
Het |
| Tmem178 |
C |
T |
17: 81,252,331 (GRCm39) |
P72S |
probably benign |
Het |
| Tmem52 |
C |
T |
4: 155,553,926 (GRCm39) |
P46S |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tulp3 |
A |
T |
6: 128,303,792 (GRCm39) |
V269D |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,720,255 (GRCm39) |
|
probably null |
Het |
| Upf1 |
G |
A |
8: 70,786,073 (GRCm39) |
S962L |
probably benign |
Het |
| Vcpip1 |
C |
T |
1: 9,816,745 (GRCm39) |
R546Q |
probably damaging |
Het |
| Vmn2r49 |
A |
C |
7: 9,722,820 (GRCm39) |
S151R |
probably benign |
Het |
| Wac |
T |
C |
18: 7,871,746 (GRCm39) |
|
probably null |
Het |
| Wrn |
C |
T |
8: 33,826,024 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
A |
11: 62,671,627 (GRCm39) |
D149Y |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,690,091 (GRCm39) |
C390R |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,896,210 (GRCm39) |
T314A |
possibly damaging |
Het |
| Zfyve1 |
C |
T |
12: 83,598,261 (GRCm39) |
D656N |
probably benign |
Het |
| Zmym1 |
T |
A |
4: 126,952,728 (GRCm39) |
K18* |
probably null |
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 |
|
R7438:Helz
|
UTSW |
11 |
107,552,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCTGGTTCCACGGAATAGTAAAATG -3'
(R):5'- AGGCTCAGTGAAGCCTTAAG -3'
Sequencing Primer
(F):5'- GTTCCACGGAATAGTAAAATGGTTTG -3'
(R):5'- AGGCTCAGTGAAGCCTTAAGTTTTAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation