Incidental Mutation 'R5664:Herc6'
ID |
444255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc6
|
Ensembl Gene |
ENSMUSG00000029798 |
Gene Name |
hect domain and RLD 6 |
Synonyms |
Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1 |
MMRRC Submission |
043307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5664 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57595669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 449
(T449K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
AlphaFold |
F2Z461 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031817
AA Change: T449K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031817 Gene: ENSMUSG00000029798 AA Change: T449K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204843
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,977 (GRCm39) |
|
probably null |
Het |
9430015G10Rik |
T |
A |
4: 156,208,016 (GRCm39) |
L112H |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,134,210 (GRCm39) |
L441P |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,232,306 (GRCm39) |
I351F |
probably damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,560,272 (GRCm39) |
T373A |
probably damaging |
Het |
Atr |
C |
A |
9: 95,787,866 (GRCm39) |
N1486K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,730,824 (GRCm39) |
S583P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,964,525 (GRCm39) |
D1493E |
probably benign |
Het |
Brme1 |
A |
T |
8: 84,893,288 (GRCm39) |
I152F |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,225,069 (GRCm39) |
E548G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,307,506 (GRCm39) |
R15Q |
probably benign |
Het |
Ccl3 |
A |
G |
11: 83,540,039 (GRCm39) |
F22S |
probably benign |
Het |
Clcf1 |
T |
C |
19: 4,272,150 (GRCm39) |
F69S |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,686,895 (GRCm39) |
E170G |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,083,413 (GRCm39) |
F489L |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,631,577 (GRCm39) |
N390I |
probably damaging |
Het |
Dkk1 |
T |
A |
19: 30,526,189 (GRCm39) |
Y135F |
probably benign |
Het |
Edil3 |
G |
T |
13: 89,467,832 (GRCm39) |
V446F |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,725 (GRCm39) |
E93V |
probably damaging |
Het |
Epsti1 |
C |
T |
14: 78,201,104 (GRCm39) |
T196I |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,876,394 (GRCm39) |
S2376P |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,911 (GRCm39) |
V1532A |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,818,439 (GRCm39) |
M4724K |
probably benign |
Het |
Gcat |
T |
A |
15: 78,927,273 (GRCm39) |
L238Q |
probably damaging |
Het |
Gimap6 |
T |
C |
6: 48,679,209 (GRCm39) |
K276E |
probably benign |
Het |
Gjb5 |
T |
A |
4: 127,249,722 (GRCm39) |
I141F |
probably benign |
Het |
Glt6d1 |
T |
C |
2: 25,704,192 (GRCm39) |
I7V |
probably benign |
Het |
Gtf2h5 |
G |
A |
17: 6,134,799 (GRCm39) |
G30R |
probably damaging |
Het |
Hpn |
A |
T |
7: 30,798,687 (GRCm39) |
Y132N |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,355 (GRCm39) |
M190K |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,578,162 (GRCm39) |
H1151R |
unknown |
Het |
Krt74 |
A |
G |
15: 101,669,014 (GRCm39) |
|
noncoding transcript |
Het |
Loxl3 |
G |
A |
6: 83,026,863 (GRCm39) |
S564N |
probably benign |
Het |
Map7 |
T |
A |
10: 20,143,105 (GRCm39) |
V418E |
unknown |
Het |
Mrpl37 |
T |
C |
4: 106,921,588 (GRCm39) |
N214D |
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,923 (GRCm39) |
Y656H |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,526 (GRCm39) |
D2099G |
probably benign |
Het |
Nktr |
T |
A |
9: 121,578,483 (GRCm39) |
C825* |
probably null |
Het |
Nomo1 |
A |
G |
7: 45,725,581 (GRCm39) |
E1029G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,633,020 (GRCm39) |
D1037G |
probably benign |
Het |
Or4b12 |
A |
G |
2: 90,095,959 (GRCm39) |
F272L |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,363,178 (GRCm39) |
L267P |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,049 (GRCm39) |
V385D |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,682,733 (GRCm39) |
L38P |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,788,345 (GRCm39) |
D701V |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,587,478 (GRCm39) |
T1070A |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,923,919 (GRCm39) |
D185G |
probably benign |
Het |
Prp2rt |
C |
A |
13: 97,235,629 (GRCm39) |
L39F |
probably damaging |
Het |
Prss1l |
C |
T |
6: 41,371,605 (GRCm39) |
P17L |
probably benign |
Het |
Prune1 |
A |
T |
3: 95,165,489 (GRCm39) |
L261Q |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,608,541 (GRCm39) |
L1444I |
probably damaging |
Het |
Serpina6 |
A |
C |
12: 103,620,726 (GRCm39) |
C8G |
probably damaging |
Het |
Sla2 |
A |
T |
2: 156,716,919 (GRCm39) |
D180E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Snhg16 |
A |
T |
11: 116,563,490 (GRCm39) |
T27S |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,816,796 (GRCm39) |
K311R |
possibly damaging |
Het |
Tdpoz6 |
A |
G |
3: 93,599,994 (GRCm39) |
F125S |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,910,099 (GRCm39) |
C167S |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,301,373 (GRCm39) |
C710S |
possibly damaging |
Het |
Tsks |
G |
A |
7: 44,603,208 (GRCm39) |
E337K |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,604 (GRCm39) |
I593T |
probably damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,899,765 (GRCm39) |
I713T |
possibly damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,033 (GRCm39) |
T303M |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,978 (GRCm39) |
M258K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,895,202 (GRCm39) |
|
probably null |
Het |
Wap |
A |
G |
11: 6,588,609 (GRCm39) |
I5T |
possibly damaging |
Het |
Zfp235 |
A |
C |
7: 23,841,576 (GRCm39) |
H665P |
probably damaging |
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 |
IGL02835:Herc6
|
UTSW |
6 |
57,623,146 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
|
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'- GTGTGTGCTAAGACAAAGACC -3'
(R):5'- GCTAGAAAGATGCTTCATGTCTC -3'
Sequencing Primer
(F):5'- TGTGTGCTAAGACAAAGACCAAATG -3'
(R):5'- ACCACCTATCACAATGTCTGG -3'
|
Posted On |
2016-11-09 |