Incidental Mutation 'R5763:Herc6'
| ID |
446110 |
| 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 |
043364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57639872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 995
(N995K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031817
AA Change: N995K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: N995K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (70/72) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,670,768 (GRCm39) |
H330R |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Actl6b |
T |
A |
5: 137,565,063 (GRCm39) |
L314Q |
possibly damaging |
Het |
| Adam22 |
A |
T |
5: 8,184,544 (GRCm39) |
C483S |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,070,462 (GRCm39) |
L601H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,547,009 (GRCm39) |
D1280E |
probably damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
A |
4: 65,647,568 (GRCm39) |
M757L |
probably benign |
Het |
| Atr |
A |
G |
9: 95,827,176 (GRCm39) |
M2407V |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,471,471 (GRCm39) |
F2283L |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,835,043 (GRCm39) |
Y940* |
probably null |
Het |
| Camk2g |
A |
T |
14: 20,789,415 (GRCm39) |
N218K |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,462,756 (GRCm39) |
P115L |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 113,888,245 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,515,682 (GRCm39) |
D150E |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,374,973 (GRCm39) |
S2094P |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,673 (GRCm39) |
F593L |
probably damaging |
Het |
| Dhx16 |
G |
A |
17: 36,192,580 (GRCm39) |
E171K |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,311,298 (GRCm39) |
I1759T |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,846,065 (GRCm39) |
S2991I |
probably damaging |
Het |
| Entpd7 |
G |
T |
19: 43,692,705 (GRCm39) |
V87L |
probably damaging |
Het |
| Fam221a |
T |
G |
6: 49,355,518 (GRCm39) |
L207V |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,343,071 (GRCm39) |
I135N |
probably benign |
Het |
| Gabpa |
C |
A |
16: 84,657,297 (GRCm39) |
Q391K |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,897,475 (GRCm39) |
H111L |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,270,501 (GRCm39) |
D737G |
probably damaging |
Het |
| Ldha |
G |
A |
7: 46,497,213 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
G |
A |
11: 103,504,469 (GRCm39) |
P324S |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,314,997 (GRCm39) |
E88G |
probably damaging |
Het |
| Mical2 |
G |
A |
7: 111,973,861 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,979,587 (GRCm39) |
V18E |
probably benign |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,355 (GRCm39) |
C190* |
probably null |
Het |
| Nog |
C |
T |
11: 89,192,291 (GRCm39) |
V186M |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,581,369 (GRCm39) |
F392L |
probably benign |
Het |
| Or11h7 |
T |
C |
14: 50,891,525 (GRCm39) |
I277T |
possibly damaging |
Het |
| Or12j3 |
T |
A |
7: 139,953,568 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
A |
11: 73,738,693 (GRCm39) |
Q86L |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,372 (GRCm39) |
M28L |
probably benign |
Het |
| Or7c74 |
T |
C |
2: 37,161,025 (GRCm39) |
|
noncoding transcript |
Het |
| Phyhd1 |
T |
A |
2: 30,169,983 (GRCm39) |
D158E |
probably damaging |
Het |
| Pik3r4 |
G |
T |
9: 105,546,974 (GRCm39) |
K917N |
probably benign |
Het |
| Pnma1 |
A |
G |
12: 84,194,124 (GRCm39) |
V193A |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,805 (GRCm39) |
E167G |
probably damaging |
Het |
| Prss50 |
A |
T |
9: 110,691,517 (GRCm39) |
K82* |
probably null |
Het |
| Qsox1 |
A |
G |
1: 155,655,625 (GRCm39) |
S513P |
probably benign |
Het |
| Rheb |
A |
G |
5: 25,012,785 (GRCm39) |
V98A |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,438,606 (GRCm39) |
I131V |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,781,684 (GRCm39) |
D178V |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,385,343 (GRCm39) |
|
probably null |
Het |
| Siglecf |
A |
T |
7: 43,005,744 (GRCm39) |
K434* |
probably null |
Het |
| Slc14a1 |
T |
C |
18: 78,159,629 (GRCm39) |
Y88C |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,172,140 (GRCm39) |
E89G |
probably damaging |
Het |
| Son |
C |
T |
16: 91,454,378 (GRCm39) |
R1042C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
C |
A |
11: 79,916,134 (GRCm39) |
Y457* |
probably null |
Het |
| Tet1 |
T |
A |
10: 62,675,847 (GRCm39) |
N743I |
probably damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,259 (GRCm39) |
F660L |
possibly damaging |
Het |
| Tnpo1 |
A |
C |
13: 98,996,445 (GRCm39) |
I452S |
possibly damaging |
Het |
| Trav4-3 |
G |
T |
14: 53,836,844 (GRCm39) |
G103V |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,195,809 (GRCm39) |
K994E |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,724 (GRCm39) |
T731A |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,231 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp663 |
G |
T |
2: 165,200,355 (GRCm39) |
S75* |
probably null |
Het |
| Zik1 |
G |
T |
7: 10,226,293 (GRCm39) |
H25N |
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 |
|
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 |
|
|
R5664:Herc6
|
UTSW |
6 |
57,595,669 (GRCm39) |
missense |
probably benign |
|
|
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'- TAGGCTGCATGTGAAAGGC -3'
(R):5'- TTGTTGTTCAGGAAATATTTCAGCC -3'
Sequencing Primer
(F):5'- CTGCATGTGAAAGGCCTACAG -3'
(R):5'- GTTCAGGAAATATTTCAGCCAAAAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation