Incidental Mutation 'IGL02835:Herc6'
ID |
391969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc6
|
Ensembl Gene |
ENSMUSG00000029798 |
Gene Name |
hect domain and RLD 6 |
Synonyms |
Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02835 (G1)
|
Quality Score |
176 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57623146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 583
(I583T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
AlphaFold |
F2Z461 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031817
AA Change: I583T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031817 Gene: ENSMUSG00000029798 AA Change: I583T
Domain | Start | End | E-Value | Type |
Pfam:RCC1
|
40 |
89 |
1.9e-12 |
PFAM |
Pfam:RCC1
|
92 |
142 |
4.8e-17 |
PFAM |
Pfam:RCC1_2
|
129 |
158 |
3.4e-14 |
PFAM |
Pfam:RCC1
|
145 |
195 |
1.6e-18 |
PFAM |
Pfam:RCC1_2
|
183 |
211 |
1e-8 |
PFAM |
Pfam:RCC1
|
198 |
250 |
2e-10 |
PFAM |
Pfam:RCC1_2
|
237 |
266 |
4e-10 |
PFAM |
Pfam:RCC1
|
253 |
301 |
4.8e-9 |
PFAM |
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
HECTc
|
677 |
1003 |
1.03e-57 |
SMART |
|
Meta Mutation Damage Score |
0.7003 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
A |
8: 79,937,284 (GRCm39) |
K208* |
probably null |
Het |
A530016L24Rik |
A |
C |
12: 112,461,420 (GRCm39) |
|
probably null |
Het |
A830018L16Rik |
A |
C |
1: 12,042,279 (GRCm39) |
D433A |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,401,515 (GRCm39) |
I3985N |
probably damaging |
Het |
Abhd17c |
C |
T |
7: 83,800,731 (GRCm39) |
D108N |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,326,173 (GRCm39) |
D94N |
probably damaging |
Het |
Agr2 |
A |
G |
12: 36,045,903 (GRCm39) |
D50G |
probably benign |
Het |
Angptl1 |
A |
G |
1: 156,686,090 (GRCm39) |
D392G |
probably benign |
Het |
Apob |
A |
G |
12: 8,065,097 (GRCm39) |
N3989S |
possibly damaging |
Het |
AU018091 |
T |
C |
7: 3,218,897 (GRCm39) |
D12G |
unknown |
Het |
Cyfip2 |
A |
T |
11: 46,140,598 (GRCm39) |
S742T |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,051,055 (GRCm39) |
S892N |
probably damaging |
Het |
Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
Egfem1 |
T |
C |
3: 29,711,390 (GRCm39) |
L323P |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fjx1 |
G |
A |
2: 102,281,092 (GRCm39) |
A281V |
possibly damaging |
Het |
Fmn2 |
T |
A |
1: 174,409,625 (GRCm39) |
D619E |
unknown |
Het |
Gm4795 |
A |
C |
10: 44,882,254 (GRCm39) |
|
noncoding transcript |
Het |
Gm5117 |
T |
C |
8: 32,227,198 (GRCm39) |
|
noncoding transcript |
Het |
Gm5250 |
T |
C |
1: 13,132,418 (GRCm39) |
|
noncoding transcript |
Het |
Gtdc1 |
A |
T |
2: 44,646,324 (GRCm39) |
Y101* |
probably null |
Het |
Hyal4 |
G |
A |
6: 24,765,714 (GRCm39) |
R356H |
probably benign |
Het |
Il22ra2 |
C |
A |
10: 19,502,424 (GRCm39) |
T81K |
probably benign |
Het |
Iqcm |
T |
A |
8: 76,281,511 (GRCm39) |
|
probably benign |
Het |
Izumo4 |
G |
A |
10: 80,540,959 (GRCm39) |
V220I |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,554,133 (GRCm39) |
D899E |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,335,648 (GRCm39) |
N1358K |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,698,863 (GRCm39) |
|
probably null |
Het |
Lyst |
C |
T |
13: 13,835,685 (GRCm39) |
T1789M |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,049,760 (GRCm39) |
T732A |
probably damaging |
Het |
Mdh1b |
A |
T |
1: 63,757,816 (GRCm39) |
I305N |
probably damaging |
Het |
Mettl13 |
A |
G |
1: 162,373,585 (GRCm39) |
I222T |
probably damaging |
Het |
Mtcl2 |
G |
A |
2: 156,883,854 (GRCm39) |
T363I |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,584,319 (GRCm39) |
F2583L |
probably benign |
Het |
Nbea |
C |
T |
3: 55,625,290 (GRCm39) |
R2267Q |
possibly damaging |
Het |
Ndfip1 |
T |
C |
18: 38,589,144 (GRCm39) |
Y178H |
probably damaging |
Het |
Nin |
A |
T |
12: 70,103,512 (GRCm39) |
F243I |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,523,869 (GRCm39) |
I537K |
possibly damaging |
Het |
Nup155 |
T |
C |
15: 8,172,614 (GRCm39) |
Y867H |
probably damaging |
Het |
Pakap |
C |
G |
4: 57,883,044 (GRCm39) |
P837A |
probably damaging |
Het |
Pik3r4 |
A |
C |
9: 105,549,905 (GRCm39) |
I999L |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,952,292 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polg2 |
A |
T |
11: 106,666,266 (GRCm39) |
V293E |
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,380,817 (GRCm39) |
Y402F |
probably damaging |
Het |
Prok1 |
T |
C |
3: 107,144,531 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
T |
C |
5: 145,091,500 (GRCm39) |
D533G |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,707,891 (GRCm39) |
V1484A |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,293 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
T |
G |
1: 107,530,586 (GRCm39) |
F121L |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,679,081 (GRCm39) |
V41E |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,182,126 (GRCm39) |
N725S |
possibly damaging |
Het |
Stab1 |
A |
T |
14: 30,867,981 (GRCm39) |
|
probably null |
Het |
Themis |
A |
T |
10: 28,637,616 (GRCm39) |
|
probably benign |
Het |
Trim68 |
T |
A |
7: 102,327,780 (GRCm39) |
Y391F |
probably benign |
Het |
Trmt1 |
T |
G |
8: 85,423,589 (GRCm39) |
V327G |
probably null |
Het |
Vill |
C |
T |
9: 118,896,513 (GRCm39) |
T120M |
probably benign |
Het |
|
Other mutations in Herc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Herc6
|
APN |
6 |
57,584,130 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00836:Herc6
|
APN |
6 |
57,596,534 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01289:Herc6
|
APN |
6 |
57,575,608 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01631:Herc6
|
APN |
6 |
57,581,092 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02656:Herc6
|
APN |
6 |
57,588,821 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02966:Herc6
|
APN |
6 |
57,560,318 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03297:Herc6
|
APN |
6 |
57,639,374 (GRCm39) |
missense |
probably benign |
0.03 |
R0218:Herc6
|
UTSW |
6 |
57,596,586 (GRCm39) |
missense |
probably benign |
0.00 |
R0470:Herc6
|
UTSW |
6 |
57,596,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R0699:Herc6
|
UTSW |
6 |
57,558,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0702:Herc6
|
UTSW |
6 |
57,558,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0707:Herc6
|
UTSW |
6 |
57,639,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0850:Herc6
|
UTSW |
6 |
57,560,227 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1067:Herc6
|
UTSW |
6 |
57,639,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Herc6
|
UTSW |
6 |
57,629,050 (GRCm39) |
missense |
probably benign |
|
R1840:Herc6
|
UTSW |
6 |
57,635,091 (GRCm39) |
nonsense |
probably null |
|
R1889:Herc6
|
UTSW |
6 |
57,639,060 (GRCm39) |
nonsense |
probably null |
|
R1938:Herc6
|
UTSW |
6 |
57,602,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R2024:Herc6
|
UTSW |
6 |
57,560,317 (GRCm39) |
missense |
probably benign |
0.04 |
R2051:Herc6
|
UTSW |
6 |
57,602,961 (GRCm39) |
missense |
probably benign |
0.00 |
R2238:Herc6
|
UTSW |
6 |
57,631,386 (GRCm39) |
missense |
probably benign |
0.05 |
R2244:Herc6
|
UTSW |
6 |
57,575,602 (GRCm39) |
nonsense |
probably null |
|
R4085:Herc6
|
UTSW |
6 |
57,624,054 (GRCm39) |
missense |
probably benign |
0.09 |
R4410:Herc6
|
UTSW |
6 |
57,636,664 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4490:Herc6
|
UTSW |
6 |
57,631,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Herc6
|
UTSW |
6 |
57,636,698 (GRCm39) |
missense |
probably benign |
0.34 |
R4716:Herc6
|
UTSW |
6 |
57,575,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Herc6
|
UTSW |
6 |
57,577,045 (GRCm39) |
critical splice donor site |
probably null |
|
R4761:Herc6
|
UTSW |
6 |
57,639,885 (GRCm39) |
missense |
probably benign |
0.01 |
R4798:Herc6
|
UTSW |
6 |
57,581,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R4826:Herc6
|
UTSW |
6 |
57,624,072 (GRCm39) |
missense |
probably benign |
0.00 |
R5520:Herc6
|
UTSW |
6 |
57,624,105 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5545:Herc6
|
UTSW |
6 |
57,634,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5664:Herc6
|
UTSW |
6 |
57,595,669 (GRCm39) |
missense |
probably benign |
|
R5763:Herc6
|
UTSW |
6 |
57,639,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Herc6
|
UTSW |
6 |
57,623,188 (GRCm39) |
missense |
probably benign |
|
R6115:Herc6
|
UTSW |
6 |
57,560,191 (GRCm39) |
missense |
probably benign |
0.01 |
R6225:Herc6
|
UTSW |
6 |
57,639,139 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7287:Herc6
|
UTSW |
6 |
57,628,965 (GRCm39) |
splice site |
probably null |
|
R7319:Herc6
|
UTSW |
6 |
57,581,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Herc6
|
UTSW |
6 |
57,628,791 (GRCm39) |
splice site |
probably null |
|
R7480:Herc6
|
UTSW |
6 |
57,558,206 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7485:Herc6
|
UTSW |
6 |
57,558,089 (GRCm39) |
missense |
probably benign |
0.00 |
R7670:Herc6
|
UTSW |
6 |
57,637,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R7740:Herc6
|
UTSW |
6 |
57,636,802 (GRCm39) |
splice site |
probably null |
|
R7914:Herc6
|
UTSW |
6 |
57,584,106 (GRCm39) |
missense |
probably benign |
0.03 |
R8356:Herc6
|
UTSW |
6 |
57,575,548 (GRCm39) |
missense |
probably benign |
0.02 |
R8403:Herc6
|
UTSW |
6 |
57,560,191 (GRCm39) |
missense |
probably benign |
0.01 |
R8456:Herc6
|
UTSW |
6 |
57,575,548 (GRCm39) |
missense |
probably benign |
0.02 |
R8473:Herc6
|
UTSW |
6 |
57,624,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R8696:Herc6
|
UTSW |
6 |
57,624,134 (GRCm39) |
missense |
probably benign |
0.00 |
R8751:Herc6
|
UTSW |
6 |
57,639,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Herc6
|
UTSW |
6 |
57,595,612 (GRCm39) |
missense |
probably benign |
0.01 |
R9112:Herc6
|
UTSW |
6 |
57,596,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Herc6
|
UTSW |
6 |
57,636,663 (GRCm39) |
missense |
probably benign |
0.01 |
R9210:Herc6
|
UTSW |
6 |
57,639,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:Herc6
|
UTSW |
6 |
57,602,955 (GRCm39) |
nonsense |
probably null |
|
R9427:Herc6
|
UTSW |
6 |
57,636,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Herc6
|
UTSW |
6 |
57,602,899 (GRCm39) |
nonsense |
probably null |
|
R9581:Herc6
|
UTSW |
6 |
57,635,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Herc6
|
UTSW |
6 |
57,629,017 (GRCm39) |
missense |
probably benign |
|
Z1176:Herc6
|
UTSW |
6 |
57,577,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGTGAAATATGCTGAGTGAAG -3'
(R):5'- GCAAAGTGTTTAAGTTTTCAATGGC -3'
Sequencing Primer
(F):5'- GCTGAGTGAAGTTTATCCCATTTAG -3'
(R):5'- GTTTTCAATGGCATGCAATTTAGC -3'
|
Posted On |
2016-06-08 |