Incidental Mutation 'IGL00548:Herc2'
ID |
5238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Herc2
|
Ensembl Gene |
ENSMUSG00000030451 |
Gene Name |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
Synonyms |
D7H15F37S1, D7H15F32S1, rjs, jdf2, D15F32S1h |
Accession Numbers |
|
Is this an essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
IGL00548
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
56050196-56231800 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56206565 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 3881
(M3881K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076226]
[ENSMUST00000164095]
[ENSMUST00000205303]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076226
AA Change: M3917K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000075579 Gene: ENSMUSG00000030451 AA Change: M3917K
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
304 |
317 |
N/A |
INTRINSIC |
Pfam:RCC1
|
514 |
567 |
7.6e-16 |
PFAM |
Pfam:RCC1_2
|
554 |
583 |
6e-9 |
PFAM |
Pfam:RCC1
|
570 |
615 |
7.1e-17 |
PFAM |
Pfam:RCC1_2
|
606 |
637 |
6.9e-8 |
PFAM |
Pfam:RCC1
|
624 |
673 |
7.2e-15 |
PFAM |
Pfam:RCC1
|
676 |
725 |
3.3e-18 |
PFAM |
Pfam:RCC1_2
|
712 |
740 |
1.6e-9 |
PFAM |
low complexity region
|
854 |
866 |
N/A |
INTRINSIC |
low complexity region
|
902 |
913 |
N/A |
INTRINSIC |
coiled coil region
|
950 |
977 |
N/A |
INTRINSIC |
low complexity region
|
1052 |
1066 |
N/A |
INTRINSIC |
Cyt-b5
|
1211 |
1284 |
1.08e-1 |
SMART |
low complexity region
|
1310 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1440 |
1446 |
N/A |
INTRINSIC |
low complexity region
|
1545 |
1563 |
N/A |
INTRINSIC |
coiled coil region
|
1651 |
1674 |
N/A |
INTRINSIC |
Pfam:MIB_HERC2
|
1871 |
1933 |
5.8e-29 |
PFAM |
low complexity region
|
1939 |
1952 |
N/A |
INTRINSIC |
low complexity region
|
2211 |
2222 |
N/A |
INTRINSIC |
low complexity region
|
2381 |
2388 |
N/A |
INTRINSIC |
low complexity region
|
2402 |
2416 |
N/A |
INTRINSIC |
low complexity region
|
2521 |
2540 |
N/A |
INTRINSIC |
Pfam:Cul7
|
2555 |
2633 |
2.6e-43 |
PFAM |
ZnF_ZZ
|
2703 |
2747 |
5.39e-11 |
SMART |
APC10
|
2780 |
2933 |
5.1e-41 |
SMART |
TECPR
|
2978 |
3019 |
7.59e0 |
SMART |
Pfam:RCC1_2
|
3048 |
3079 |
9.2e-8 |
PFAM |
Pfam:RCC1
|
3066 |
3115 |
3.7e-17 |
PFAM |
Pfam:RCC1_2
|
3102 |
3131 |
3.9e-11 |
PFAM |
Pfam:RCC1
|
3118 |
3162 |
1.9e-15 |
PFAM |
Pfam:RCC1
|
3172 |
3221 |
9.6e-15 |
PFAM |
Pfam:RCC1_2
|
3208 |
3236 |
2.2e-7 |
PFAM |
TECPR
|
3241 |
3284 |
1.32e2 |
SMART |
low complexity region
|
3357 |
3365 |
N/A |
INTRINSIC |
low complexity region
|
3430 |
3447 |
N/A |
INTRINSIC |
low complexity region
|
3480 |
3495 |
N/A |
INTRINSIC |
low complexity region
|
3755 |
3771 |
N/A |
INTRINSIC |
TECPR
|
3972 |
4012 |
2.41e1 |
SMART |
Pfam:RCC1_2
|
4041 |
4072 |
5.1e-8 |
PFAM |
Pfam:RCC1
|
4059 |
4108 |
1.5e-16 |
PFAM |
Pfam:RCC1
|
4111 |
4155 |
7.9e-16 |
PFAM |
TECPR
|
4184 |
4225 |
8.42e1 |
SMART |
Pfam:RCC1_2
|
4253 |
4282 |
4.3e-10 |
PFAM |
Pfam:RCC1
|
4269 |
4318 |
1.2e-17 |
PFAM |
Blast:HECTc
|
4340 |
4425 |
6e-18 |
BLAST |
HECTc
|
4455 |
4801 |
1.37e-62 |
SMART |
low complexity region
|
4808 |
4828 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164095
AA Change: M3917K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000131573 Gene: ENSMUSG00000030451 AA Change: M3917K
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
304 |
317 |
N/A |
INTRINSIC |
Pfam:RCC1
|
514 |
567 |
2.9e-15 |
PFAM |
Pfam:RCC1_2
|
554 |
583 |
1.6e-8 |
PFAM |
Pfam:RCC1
|
570 |
615 |
2.3e-16 |
PFAM |
Pfam:RCC1
|
624 |
673 |
1.2e-14 |
PFAM |
Pfam:RCC1_2
|
660 |
689 |
2.1e-7 |
PFAM |
Pfam:RCC1
|
676 |
725 |
9.8e-18 |
PFAM |
Pfam:RCC1_2
|
712 |
740 |
1.1e-9 |
PFAM |
low complexity region
|
854 |
866 |
N/A |
INTRINSIC |
low complexity region
|
902 |
913 |
N/A |
INTRINSIC |
coiled coil region
|
950 |
977 |
N/A |
INTRINSIC |
low complexity region
|
1052 |
1066 |
N/A |
INTRINSIC |
Cyt-b5
|
1211 |
1284 |
1.08e-1 |
SMART |
low complexity region
|
1310 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1440 |
1446 |
N/A |
INTRINSIC |
low complexity region
|
1545 |
1563 |
N/A |
INTRINSIC |
coiled coil region
|
1651 |
1674 |
N/A |
INTRINSIC |
Pfam:MIB_HERC2
|
1871 |
1931 |
9.3e-25 |
PFAM |
low complexity region
|
1939 |
1952 |
N/A |
INTRINSIC |
low complexity region
|
2211 |
2222 |
N/A |
INTRINSIC |
low complexity region
|
2381 |
2388 |
N/A |
INTRINSIC |
low complexity region
|
2402 |
2416 |
N/A |
INTRINSIC |
low complexity region
|
2521 |
2540 |
N/A |
INTRINSIC |
Pfam:Cul7
|
2555 |
2632 |
1.4e-39 |
PFAM |
ZnF_ZZ
|
2703 |
2747 |
5.39e-11 |
SMART |
APC10
|
2780 |
2933 |
5.1e-41 |
SMART |
TECPR
|
2978 |
3019 |
7.59e0 |
SMART |
Pfam:RCC1_2
|
3048 |
3079 |
1.6e-7 |
PFAM |
Pfam:RCC1
|
3066 |
3115 |
7.1e-16 |
PFAM |
Pfam:RCC1_2
|
3102 |
3131 |
7.1e-11 |
PFAM |
Pfam:RCC1
|
3118 |
3163 |
1.2e-14 |
PFAM |
Pfam:RCC1
|
3172 |
3221 |
4.7e-15 |
PFAM |
TECPR
|
3241 |
3284 |
1.32e2 |
SMART |
low complexity region
|
3357 |
3365 |
N/A |
INTRINSIC |
low complexity region
|
3430 |
3447 |
N/A |
INTRINSIC |
low complexity region
|
3480 |
3495 |
N/A |
INTRINSIC |
low complexity region
|
3755 |
3771 |
N/A |
INTRINSIC |
TECPR
|
3972 |
4012 |
2.41e1 |
SMART |
Pfam:RCC1_2
|
4041 |
4072 |
1.2e-7 |
PFAM |
Pfam:RCC1
|
4059 |
4108 |
9.6e-15 |
PFAM |
Pfam:RCC1
|
4111 |
4156 |
5.6e-15 |
PFAM |
TECPR
|
4184 |
4225 |
8.42e1 |
SMART |
Pfam:RCC1_2
|
4253 |
4282 |
7.3e-10 |
PFAM |
Pfam:RCC1
|
4269 |
4318 |
1.6e-16 |
PFAM |
Blast:HECTc
|
4340 |
4425 |
6e-18 |
BLAST |
HECTc
|
4455 |
4801 |
1.37e-62 |
SMART |
low complexity region
|
4808 |
4828 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205303
AA Change: M3881K
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012] PHENOTYPE: Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
A |
G |
4: 111,118,884 |
Y146C |
probably damaging |
Het |
Dctn5 |
T |
A |
7: 122,143,796 |
C120* |
probably null |
Het |
Ddah2 |
A |
G |
17: 35,060,631 |
D109G |
possibly damaging |
Het |
Dgke |
G |
A |
11: 89,055,371 |
T201I |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,261,579 |
I146V |
probably benign |
Het |
Fam98a |
T |
C |
17: 75,538,818 |
E311G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,931,316 |
K787E |
probably benign |
Het |
Neb |
A |
G |
2: 52,243,972 |
V3333A |
probably benign |
Het |
Prkch |
C |
A |
12: 73,702,811 |
Q393K |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,806,186 |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,004,321 |
T1281A |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,341,298 |
T134A |
probably damaging |
Het |
|
Other mutations in Herc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00329:Herc2
|
APN |
7 |
56124299 |
missense |
probably damaging |
1.00 |
IGL00529:Herc2
|
APN |
7 |
56157753 |
missense |
probably benign |
|
IGL00970:Herc2
|
APN |
7 |
56181064 |
splice site |
probably benign |
|
IGL01141:Herc2
|
APN |
7 |
56212841 |
missense |
possibly damaging |
0.47 |
IGL01147:Herc2
|
APN |
7 |
56156949 |
missense |
probably benign |
0.43 |
IGL01150:Herc2
|
APN |
7 |
56181133 |
missense |
probably damaging |
1.00 |
IGL01519:Herc2
|
APN |
7 |
56103950 |
missense |
probably damaging |
1.00 |
IGL01576:Herc2
|
APN |
7 |
56226661 |
critical splice donor site |
probably null |
|
IGL01626:Herc2
|
APN |
7 |
56085142 |
missense |
probably benign |
0.02 |
IGL01658:Herc2
|
APN |
7 |
56159452 |
missense |
probably damaging |
1.00 |
IGL01707:Herc2
|
APN |
7 |
56165187 |
missense |
probably damaging |
1.00 |
IGL01727:Herc2
|
APN |
7 |
56137806 |
missense |
probably damaging |
1.00 |
IGL01935:Herc2
|
APN |
7 |
56153793 |
missense |
probably benign |
|
IGL01969:Herc2
|
APN |
7 |
56185831 |
splice site |
probably benign |
|
IGL02074:Herc2
|
APN |
7 |
56087444 |
splice site |
probably benign |
|
IGL02261:Herc2
|
APN |
7 |
56206744 |
missense |
probably damaging |
0.99 |
IGL02339:Herc2
|
APN |
7 |
56121722 |
missense |
probably benign |
0.01 |
IGL02353:Herc2
|
APN |
7 |
56114812 |
missense |
probably damaging |
1.00 |
IGL02360:Herc2
|
APN |
7 |
56114812 |
missense |
probably damaging |
1.00 |
IGL02409:Herc2
|
APN |
7 |
56220469 |
splice site |
probably null |
|
IGL02528:Herc2
|
APN |
7 |
56108893 |
splice site |
probably benign |
|
IGL02571:Herc2
|
APN |
7 |
56153386 |
missense |
probably damaging |
1.00 |
IGL02578:Herc2
|
APN |
7 |
56106535 |
splice site |
probably null |
|
IGL02661:Herc2
|
APN |
7 |
56113073 |
missense |
probably damaging |
1.00 |
IGL02664:Herc2
|
APN |
7 |
56135678 |
nonsense |
probably null |
|
IGL02675:Herc2
|
APN |
7 |
56164101 |
missense |
probably damaging |
0.99 |
IGL02689:Herc2
|
APN |
7 |
56165283 |
splice site |
probably benign |
|
IGL02710:Herc2
|
APN |
7 |
56137814 |
missense |
possibly damaging |
0.95 |
IGL02750:Herc2
|
APN |
7 |
56204379 |
splice site |
probably benign |
|
IGL02754:Herc2
|
APN |
7 |
56097498 |
missense |
probably damaging |
1.00 |
IGL03029:Herc2
|
APN |
7 |
56168967 |
missense |
probably damaging |
1.00 |
IGL03039:Herc2
|
APN |
7 |
56169021 |
splice site |
probably benign |
|
IGL03082:Herc2
|
APN |
7 |
56185923 |
missense |
probably benign |
0.19 |
IGL03090:Herc2
|
APN |
7 |
56204473 |
missense |
probably damaging |
0.96 |
IGL03154:Herc2
|
APN |
7 |
56202159 |
missense |
probably damaging |
1.00 |
IGL03165:Herc2
|
APN |
7 |
56191912 |
missense |
probably damaging |
1.00 |
IGL03201:Herc2
|
APN |
7 |
56219768 |
missense |
probably damaging |
1.00 |
IGL03234:Herc2
|
APN |
7 |
56103862 |
missense |
probably damaging |
1.00 |
IGL03293:Herc2
|
APN |
7 |
56155130 |
missense |
probably benign |
0.43 |
IGL03331:Herc2
|
APN |
7 |
56135267 |
splice site |
probably benign |
|
IGL03340:Herc2
|
APN |
7 |
56090920 |
missense |
possibly damaging |
0.51 |
IGL03409:Herc2
|
APN |
7 |
56228569 |
missense |
probably damaging |
1.00 |
alarmed
|
UTSW |
7 |
56229662 |
missense |
possibly damaging |
0.92 |
hyper
|
UTSW |
7 |
56159417 |
missense |
probably damaging |
1.00 |
R0798_herc2_487
|
UTSW |
7 |
56135683 |
critical splice donor site |
probably null |
|
R1370_Herc2_948
|
UTSW |
7 |
56168873 |
missense |
probably benign |
0.01 |
R2030_Herc2_144
|
UTSW |
7 |
56184373 |
missense |
probably damaging |
0.99 |
uptight
|
UTSW |
7 |
56113210 |
missense |
probably damaging |
1.00 |
I0000:Herc2
|
UTSW |
7 |
56136729 |
splice site |
probably benign |
|
PIT1430001:Herc2
|
UTSW |
7 |
56226954 |
missense |
probably damaging |
1.00 |
R0009:Herc2
|
UTSW |
7 |
56207812 |
missense |
probably benign |
0.03 |
R0009:Herc2
|
UTSW |
7 |
56207812 |
missense |
probably benign |
0.03 |
R0058:Herc2
|
UTSW |
7 |
56170483 |
missense |
possibly damaging |
0.93 |
R0114:Herc2
|
UTSW |
7 |
56153774 |
splice site |
probably benign |
|
R0117:Herc2
|
UTSW |
7 |
56213611 |
splice site |
probably benign |
|
R0141:Herc2
|
UTSW |
7 |
56121561 |
missense |
probably benign |
0.17 |
R0266:Herc2
|
UTSW |
7 |
56206578 |
missense |
probably damaging |
1.00 |
R0401:Herc2
|
UTSW |
7 |
56157732 |
missense |
probably damaging |
0.99 |
R0403:Herc2
|
UTSW |
7 |
56159417 |
missense |
probably damaging |
1.00 |
R0437:Herc2
|
UTSW |
7 |
56219815 |
nonsense |
probably null |
|
R0491:Herc2
|
UTSW |
7 |
56122366 |
missense |
possibly damaging |
0.54 |
R0499:Herc2
|
UTSW |
7 |
56184369 |
nonsense |
probably null |
|
R0580:Herc2
|
UTSW |
7 |
56138791 |
missense |
probably damaging |
1.00 |
R0650:Herc2
|
UTSW |
7 |
56113210 |
missense |
probably damaging |
1.00 |
R0744:Herc2
|
UTSW |
7 |
56206036 |
splice site |
probably benign |
|
R0798:Herc2
|
UTSW |
7 |
56135683 |
critical splice donor site |
probably null |
|
R0842:Herc2
|
UTSW |
7 |
56121705 |
missense |
probably benign |
|
R0849:Herc2
|
UTSW |
7 |
56206578 |
missense |
probably damaging |
1.00 |
R0850:Herc2
|
UTSW |
7 |
56204483 |
missense |
probably benign |
0.09 |
R0926:Herc2
|
UTSW |
7 |
56132548 |
missense |
possibly damaging |
0.67 |
R1146:Herc2
|
UTSW |
7 |
56146696 |
missense |
probably benign |
|
R1146:Herc2
|
UTSW |
7 |
56146696 |
missense |
probably benign |
|
R1292:Herc2
|
UTSW |
7 |
56197203 |
missense |
probably benign |
0.05 |
R1370:Herc2
|
UTSW |
7 |
56168873 |
missense |
probably benign |
0.01 |
R1443:Herc2
|
UTSW |
7 |
56204733 |
missense |
possibly damaging |
0.69 |
R1445:Herc2
|
UTSW |
7 |
56168996 |
missense |
probably damaging |
1.00 |
R1541:Herc2
|
UTSW |
7 |
56135657 |
missense |
probably damaging |
1.00 |
R1550:Herc2
|
UTSW |
7 |
56135658 |
missense |
probably damaging |
1.00 |
R1551:Herc2
|
UTSW |
7 |
56146669 |
missense |
probably benign |
0.01 |
R1633:Herc2
|
UTSW |
7 |
56229369 |
missense |
probably null |
1.00 |
R1635:Herc2
|
UTSW |
7 |
56136667 |
missense |
probably benign |
0.00 |
R1659:Herc2
|
UTSW |
7 |
56135105 |
missense |
probably benign |
0.00 |
R1682:Herc2
|
UTSW |
7 |
56088400 |
missense |
possibly damaging |
0.87 |
R1697:Herc2
|
UTSW |
7 |
56153905 |
missense |
probably benign |
0.43 |
R1748:Herc2
|
UTSW |
7 |
56148823 |
critical splice donor site |
probably null |
|
R1802:Herc2
|
UTSW |
7 |
56184332 |
missense |
probably damaging |
1.00 |
R1835:Herc2
|
UTSW |
7 |
56206765 |
nonsense |
probably null |
|
R1836:Herc2
|
UTSW |
7 |
56155105 |
nonsense |
probably null |
|
R1872:Herc2
|
UTSW |
7 |
56157509 |
missense |
probably benign |
0.18 |
R1889:Herc2
|
UTSW |
7 |
56189813 |
missense |
possibly damaging |
0.60 |
R1906:Herc2
|
UTSW |
7 |
56114864 |
missense |
probably benign |
0.01 |
R2004:Herc2
|
UTSW |
7 |
56137859 |
missense |
probably damaging |
1.00 |
R2030:Herc2
|
UTSW |
7 |
56184373 |
missense |
probably damaging |
0.99 |
R2037:Herc2
|
UTSW |
7 |
56205961 |
missense |
probably damaging |
1.00 |
R2059:Herc2
|
UTSW |
7 |
56163897 |
missense |
probably damaging |
1.00 |
R2068:Herc2
|
UTSW |
7 |
56132497 |
missense |
probably damaging |
1.00 |
R2072:Herc2
|
UTSW |
7 |
56226964 |
missense |
probably damaging |
1.00 |
R2085:Herc2
|
UTSW |
7 |
56212965 |
missense |
possibly damaging |
0.94 |
R2115:Herc2
|
UTSW |
7 |
56185828 |
splice site |
probably benign |
|
R2160:Herc2
|
UTSW |
7 |
56212922 |
missense |
probably benign |
0.00 |
R2173:Herc2
|
UTSW |
7 |
56185951 |
missense |
probably benign |
0.27 |
R2221:Herc2
|
UTSW |
7 |
56169018 |
critical splice donor site |
probably null |
|
R2280:Herc2
|
UTSW |
7 |
56137271 |
missense |
possibly damaging |
0.79 |
R3078:Herc2
|
UTSW |
7 |
56137243 |
missense |
probably benign |
|
R3104:Herc2
|
UTSW |
7 |
56135355 |
missense |
probably benign |
0.23 |
R3177:Herc2
|
UTSW |
7 |
56153428 |
missense |
probably benign |
0.00 |
R3277:Herc2
|
UTSW |
7 |
56153428 |
missense |
probably benign |
0.00 |
R3766:Herc2
|
UTSW |
7 |
56163824 |
missense |
probably damaging |
1.00 |
R3770:Herc2
|
UTSW |
7 |
56165007 |
missense |
probably benign |
|
R3807:Herc2
|
UTSW |
7 |
56207809 |
missense |
probably damaging |
1.00 |
R3912:Herc2
|
UTSW |
7 |
56098437 |
missense |
probably damaging |
0.98 |
R4004:Herc2
|
UTSW |
7 |
56106465 |
missense |
possibly damaging |
0.53 |
R4039:Herc2
|
UTSW |
7 |
56156411 |
missense |
probably damaging |
0.98 |
R4190:Herc2
|
UTSW |
7 |
56122448 |
missense |
probably benign |
0.03 |
R4225:Herc2
|
UTSW |
7 |
56164987 |
missense |
probably damaging |
1.00 |
R4334:Herc2
|
UTSW |
7 |
56226654 |
missense |
probably damaging |
1.00 |
R4405:Herc2
|
UTSW |
7 |
56170477 |
missense |
probably damaging |
1.00 |
R4448:Herc2
|
UTSW |
7 |
56227892 |
missense |
probably damaging |
1.00 |
R4450:Herc2
|
UTSW |
7 |
56227892 |
missense |
probably damaging |
1.00 |
R4565:Herc2
|
UTSW |
7 |
56153838 |
missense |
possibly damaging |
0.71 |
R4667:Herc2
|
UTSW |
7 |
56131253 |
missense |
probably damaging |
1.00 |
R4747:Herc2
|
UTSW |
7 |
56106393 |
missense |
possibly damaging |
0.80 |
R4762:Herc2
|
UTSW |
7 |
56170640 |
missense |
probably benign |
0.19 |
R4829:Herc2
|
UTSW |
7 |
56106492 |
missense |
probably benign |
0.39 |
R4832:Herc2
|
UTSW |
7 |
56098417 |
nonsense |
probably null |
|
R4895:Herc2
|
UTSW |
7 |
56222986 |
missense |
probably damaging |
1.00 |
R4904:Herc2
|
UTSW |
7 |
56157486 |
missense |
probably damaging |
0.99 |
R4908:Herc2
|
UTSW |
7 |
56177912 |
missense |
probably benign |
0.01 |
R4911:Herc2
|
UTSW |
7 |
56227892 |
missense |
probably damaging |
1.00 |
R4921:Herc2
|
UTSW |
7 |
56229690 |
missense |
probably benign |
0.04 |
R4939:Herc2
|
UTSW |
7 |
56206736 |
missense |
probably damaging |
1.00 |
R5155:Herc2
|
UTSW |
7 |
56227826 |
missense |
possibly damaging |
0.85 |
R5184:Herc2
|
UTSW |
7 |
56122351 |
missense |
probably damaging |
1.00 |
R5269:Herc2
|
UTSW |
7 |
56168870 |
nonsense |
probably null |
|
R5306:Herc2
|
UTSW |
7 |
56184961 |
missense |
probably damaging |
1.00 |
R5314:Herc2
|
UTSW |
7 |
56219786 |
missense |
probably damaging |
0.99 |
R5369:Herc2
|
UTSW |
7 |
56182700 |
missense |
probably damaging |
1.00 |
R5418:Herc2
|
UTSW |
7 |
56137565 |
missense |
probably damaging |
1.00 |
R5420:Herc2
|
UTSW |
7 |
56203830 |
missense |
probably damaging |
0.96 |
R5463:Herc2
|
UTSW |
7 |
56194262 |
missense |
probably damaging |
1.00 |
R5510:Herc2
|
UTSW |
7 |
56206771 |
missense |
probably damaging |
1.00 |
R5634:Herc2
|
UTSW |
7 |
56206783 |
missense |
probably damaging |
1.00 |
R5638:Herc2
|
UTSW |
7 |
56204416 |
missense |
probably benign |
0.01 |
R5690:Herc2
|
UTSW |
7 |
56157705 |
missense |
probably benign |
|
R5762:Herc2
|
UTSW |
7 |
56197190 |
missense |
possibly damaging |
0.68 |
R5807:Herc2
|
UTSW |
7 |
56230919 |
missense |
probably damaging |
0.99 |
R5878:Herc2
|
UTSW |
7 |
56124248 |
missense |
probably benign |
|
R6036:Herc2
|
UTSW |
7 |
56068053 |
missense |
probably benign |
0.01 |
R6036:Herc2
|
UTSW |
7 |
56068053 |
missense |
probably benign |
0.01 |
R6083:Herc2
|
UTSW |
7 |
56228505 |
missense |
probably benign |
0.00 |
R6192:Herc2
|
UTSW |
7 |
56207762 |
missense |
probably damaging |
1.00 |
R6193:Herc2
|
UTSW |
7 |
56156901 |
missense |
probably damaging |
0.98 |
R6261:Herc2
|
UTSW |
7 |
56197072 |
nonsense |
probably null |
|
R6267:Herc2
|
UTSW |
7 |
56153166 |
nonsense |
probably null |
|
R6267:Herc2
|
UTSW |
7 |
56204718 |
missense |
possibly damaging |
0.51 |
R6298:Herc2
|
UTSW |
7 |
56191265 |
missense |
probably benign |
|
R6299:Herc2
|
UTSW |
7 |
56135055 |
missense |
possibly damaging |
0.47 |
R6326:Herc2
|
UTSW |
7 |
56222934 |
missense |
probably damaging |
0.98 |
R6347:Herc2
|
UTSW |
7 |
56194403 |
critical splice donor site |
probably null |
|
R6394:Herc2
|
UTSW |
7 |
56215981 |
missense |
probably damaging |
1.00 |
R6500:Herc2
|
UTSW |
7 |
56146645 |
nonsense |
probably null |
|
R6526:Herc2
|
UTSW |
7 |
56157330 |
missense |
probably damaging |
0.99 |
R6592:Herc2
|
UTSW |
7 |
56207690 |
critical splice acceptor site |
probably null |
|
R6619:Herc2
|
UTSW |
7 |
56068092 |
nonsense |
probably null |
|
R6719:Herc2
|
UTSW |
7 |
56212826 |
missense |
probably damaging |
1.00 |
R6750:Herc2
|
UTSW |
7 |
56097447 |
missense |
probably damaging |
1.00 |
R6807:Herc2
|
UTSW |
7 |
56164922 |
missense |
probably damaging |
1.00 |
R6811:Herc2
|
UTSW |
7 |
56113433 |
nonsense |
probably null |
|
R6837:Herc2
|
UTSW |
7 |
56189841 |
missense |
possibly damaging |
0.89 |
R6838:Herc2
|
UTSW |
7 |
56108778 |
missense |
probably damaging |
1.00 |
R6902:Herc2
|
UTSW |
7 |
56135486 |
missense |
probably benign |
0.37 |
R6983:Herc2
|
UTSW |
7 |
56106453 |
missense |
possibly damaging |
0.74 |
R6985:Herc2
|
UTSW |
7 |
56106453 |
missense |
possibly damaging |
0.74 |
R6985:Herc2
|
UTSW |
7 |
56132480 |
missense |
probably damaging |
1.00 |
R6986:Herc2
|
UTSW |
7 |
56106453 |
missense |
possibly damaging |
0.74 |
R6987:Herc2
|
UTSW |
7 |
56106453 |
missense |
possibly damaging |
0.74 |
R7113:Herc2
|
UTSW |
7 |
56203849 |
missense |
probably damaging |
0.99 |
R7173:Herc2
|
UTSW |
7 |
56203827 |
missense |
probably damaging |
1.00 |
R7202:Herc2
|
UTSW |
7 |
56131286 |
missense |
probably damaging |
0.99 |
R7205:Herc2
|
UTSW |
7 |
56182640 |
missense |
probably damaging |
1.00 |
R7236:Herc2
|
UTSW |
7 |
56085080 |
missense |
probably benign |
0.29 |
R7297:Herc2
|
UTSW |
7 |
56136658 |
missense |
probably benign |
0.00 |
R7358:Herc2
|
UTSW |
7 |
56182675 |
missense |
possibly damaging |
0.48 |
R7438:Herc2
|
UTSW |
7 |
56103718 |
splice site |
probably null |
|
R7537:Herc2
|
UTSW |
7 |
56219779 |
nonsense |
probably null |
|
R7578:Herc2
|
UTSW |
7 |
56134800 |
missense |
probably benign |
0.07 |
R7614:Herc2
|
UTSW |
7 |
56153275 |
nonsense |
probably null |
|
R7638:Herc2
|
UTSW |
7 |
56157438 |
missense |
probably benign |
0.26 |
R7638:Herc2
|
UTSW |
7 |
56220525 |
missense |
probably damaging |
1.00 |
R7646:Herc2
|
UTSW |
7 |
56134613 |
missense |
probably benign |
|
R7663:Herc2
|
UTSW |
7 |
56136685 |
missense |
probably benign |
|
R7665:Herc2
|
UTSW |
7 |
56153155 |
missense |
probably damaging |
1.00 |
R7691:Herc2
|
UTSW |
7 |
56191845 |
missense |
probably benign |
|
R7733:Herc2
|
UTSW |
7 |
56188664 |
missense |
probably damaging |
0.99 |
R7767:Herc2
|
UTSW |
7 |
56228527 |
missense |
probably benign |
0.39 |
R7802:Herc2
|
UTSW |
7 |
56164090 |
missense |
probably damaging |
1.00 |
R7847:Herc2
|
UTSW |
7 |
56157560 |
critical splice donor site |
probably null |
|
R7956:Herc2
|
UTSW |
7 |
56113400 |
missense |
probably damaging |
0.97 |
R7985:Herc2
|
UTSW |
7 |
56165244 |
missense |
probably benign |
|
R8003:Herc2
|
UTSW |
7 |
56168904 |
missense |
possibly damaging |
0.94 |
R8045:Herc2
|
UTSW |
7 |
56184900 |
missense |
probably damaging |
1.00 |
R8085:Herc2
|
UTSW |
7 |
56229679 |
missense |
probably benign |
0.01 |
R8134:Herc2
|
UTSW |
7 |
56085136 |
missense |
probably benign |
0.10 |
R8259:Herc2
|
UTSW |
7 |
56205890 |
missense |
probably damaging |
0.99 |
R8286:Herc2
|
UTSW |
7 |
56229662 |
missense |
possibly damaging |
0.92 |
R8304:Herc2
|
UTSW |
7 |
56159438 |
missense |
probably damaging |
1.00 |
R8321:Herc2
|
UTSW |
7 |
56229348 |
missense |
possibly damaging |
0.84 |
R8332:Herc2
|
UTSW |
7 |
56146595 |
missense |
probably damaging |
1.00 |
R8432:Herc2
|
UTSW |
7 |
56155112 |
missense |
probably benign |
0.14 |
R8516:Herc2
|
UTSW |
7 |
56206570 |
missense |
probably benign |
0.05 |
R8676:Herc2
|
UTSW |
7 |
56188613 |
missense |
probably damaging |
1.00 |
R8738:Herc2
|
UTSW |
7 |
56148654 |
missense |
possibly damaging |
0.78 |
R8742:Herc2
|
UTSW |
7 |
56094395 |
missense |
probably benign |
0.12 |
R8796:Herc2
|
UTSW |
7 |
56135375 |
missense |
probably benign |
0.01 |
R8825:Herc2
|
UTSW |
7 |
56050878 |
start codon destroyed |
probably null |
0.01 |
R8826:Herc2
|
UTSW |
7 |
56106396 |
missense |
probably benign |
0.12 |
R8842:Herc2
|
UTSW |
7 |
56088311 |
missense |
probably damaging |
0.99 |
R9103:Herc2
|
UTSW |
7 |
56135055 |
missense |
possibly damaging |
0.47 |
R9124:Herc2
|
UTSW |
7 |
56184308 |
missense |
probably damaging |
1.00 |
R9134:Herc2
|
UTSW |
7 |
56182429 |
missense |
probably damaging |
0.99 |
R9168:Herc2
|
UTSW |
7 |
56152460 |
missense |
probably damaging |
0.99 |
R9173:Herc2
|
UTSW |
7 |
56206602 |
missense |
probably damaging |
0.97 |
R9238:Herc2
|
UTSW |
7 |
56163760 |
missense |
probably damaging |
0.98 |
R9249:Herc2
|
UTSW |
7 |
56113142 |
missense |
probably damaging |
1.00 |
R9344:Herc2
|
UTSW |
7 |
56122364 |
missense |
probably benign |
0.07 |
R9432:Herc2
|
UTSW |
7 |
56131184 |
missense |
probably damaging |
1.00 |
R9472:Herc2
|
UTSW |
7 |
56164095 |
missense |
probably damaging |
1.00 |
RF024:Herc2
|
UTSW |
7 |
56226525 |
missense |
probably damaging |
1.00 |
X0011:Herc2
|
UTSW |
7 |
56131292 |
missense |
probably benign |
|
X0023:Herc2
|
UTSW |
7 |
56090918 |
missense |
possibly damaging |
0.73 |
X0057:Herc2
|
UTSW |
7 |
56229690 |
missense |
probably benign |
0.04 |
X0064:Herc2
|
UTSW |
7 |
56191211 |
missense |
probably benign |
0.01 |
X0064:Herc2
|
UTSW |
7 |
56191258 |
missense |
probably benign |
|
Z1088:Herc2
|
UTSW |
7 |
56131292 |
missense |
probably benign |
|
Z1088:Herc2
|
UTSW |
7 |
56215381 |
missense |
possibly damaging |
0.86 |
Z1088:Herc2
|
UTSW |
7 |
56215432 |
missense |
probably damaging |
1.00 |
Z1088:Herc2
|
UTSW |
7 |
56226589 |
missense |
probably damaging |
1.00 |
Z1088:Herc2
|
UTSW |
7 |
56087341 |
missense |
probably benign |
0.00 |
Z1176:Herc2
|
UTSW |
7 |
56097533 |
missense |
possibly damaging |
0.48 |
Z1176:Herc2
|
UTSW |
7 |
56131292 |
missense |
probably benign |
|
Z1176:Herc2
|
UTSW |
7 |
56132498 |
missense |
probably damaging |
1.00 |
Z1177:Herc2
|
UTSW |
7 |
56121589 |
missense |
possibly damaging |
0.55 |
Z1177:Herc2
|
UTSW |
7 |
56131292 |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |