Incidental Mutation 'R9023:Herc6'
| ID |
686355 |
| 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 |
068853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57595612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 430
(N430S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031817
AA Change: N430S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: N430S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,636,917 (GRCm39) |
D760G |
possibly damaging |
Het |
| Adamts14 |
C |
T |
10: 61,038,780 (GRCm39) |
S907N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,614,651 (GRCm39) |
Y245F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,613,065 (GRCm39) |
A98V |
probably damaging |
Het |
| Afmid |
A |
T |
11: 117,726,349 (GRCm39) |
I186F |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,400,596 (GRCm39) |
Y706H |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,685,652 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,892,576 (GRCm39) |
H1485R |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,796,138 (GRCm39) |
T734M |
possibly damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,069 (GRCm39) |
|
probably benign |
Het |
| Bcl7c |
T |
C |
7: 127,306,504 (GRCm39) |
N96D |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,465,360 (GRCm39) |
L1708P |
probably benign |
Het |
| Ccl8 |
C |
T |
11: 82,006,873 (GRCm39) |
P29S |
possibly damaging |
Het |
| Clpx |
T |
A |
9: 65,234,115 (GRCm39) |
C587S |
probably null |
Het |
| Coro2b |
T |
C |
9: 62,332,978 (GRCm39) |
D168G |
|
Het |
| Dst |
T |
C |
1: 34,153,105 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
C |
T |
7: 4,477,042 (GRCm39) |
Q443* |
probably null |
Het |
| Fam131b |
G |
T |
6: 42,298,946 (GRCm39) |
N11K |
possibly damaging |
Het |
| Firrm |
A |
T |
1: 163,818,300 (GRCm39) |
I47N |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,417,413 (GRCm39) |
F284S |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,904,380 (GRCm39) |
I617T |
probably damaging |
Het |
| Gm4847 |
C |
T |
1: 166,469,332 (GRCm39) |
V111M |
probably damaging |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,854 (GRCm39) |
V179I |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,761 (GRCm39) |
S821P |
probably benign |
Het |
| Letm2 |
C |
T |
8: 26,077,236 (GRCm39) |
V285I |
|
Het |
| Map3k14 |
T |
C |
11: 103,129,835 (GRCm39) |
T361A |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,504,913 (GRCm39) |
M236L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 17,996,202 (GRCm39) |
K97R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,432 (GRCm39) |
K194* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,718,477 (GRCm39) |
Y949C |
probably damaging |
Het |
| Nat8f1 |
A |
G |
6: 85,887,369 (GRCm39) |
L197P |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
| Or2aa1 |
A |
T |
11: 59,480,367 (GRCm39) |
C183S |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or8g24 |
T |
C |
9: 38,989,307 (GRCm39) |
I245V |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,348,490 (GRCm39) |
Y515C |
probably damaging |
Het |
| Pde11a |
C |
G |
2: 75,966,803 (GRCm39) |
A549P |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,959,662 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,153,925 (GRCm39) |
I175V |
possibly damaging |
Het |
| Prb1b |
GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT |
G |
6: 132,289,174 (GRCm39) |
|
probably null |
Het |
| Prr7 |
A |
G |
13: 55,620,234 (GRCm39) |
S133G |
possibly damaging |
Het |
| Pten |
C |
A |
19: 32,795,412 (GRCm39) |
D326E |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,343 (GRCm39) |
L2021* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,140,077 (GRCm39) |
I161V |
probably benign |
Het |
| Ric1 |
C |
A |
19: 29,548,143 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,373,791 (GRCm39) |
S1157P |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,029,763 (GRCm39) |
V153A |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,968,531 (GRCm39) |
Y275H |
unknown |
Het |
| Slc6a18 |
C |
T |
13: 73,823,889 (GRCm39) |
G84R |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,301,093 (GRCm39) |
E187G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,426,249 (GRCm39) |
S520P |
unknown |
Het |
| Taar8b |
C |
T |
10: 23,967,205 (GRCm39) |
E330K |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,599,742 (GRCm39) |
F209S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,365,239 (GRCm39) |
V61D |
|
Het |
| Tg |
T |
C |
15: 66,555,522 (GRCm39) |
F738S |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,102,254 (GRCm39) |
S51P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,231 (GRCm39) |
S14975G |
probably benign |
Het |
| Usp15 |
C |
T |
10: 122,961,498 (GRCm39) |
G685R |
possibly damaging |
Het |
| Usp17lc |
C |
T |
7: 103,067,539 (GRCm39) |
P278L |
possibly damaging |
Het |
| Wasf1 |
T |
C |
10: 40,810,571 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zbtb46 |
C |
T |
2: 181,065,935 (GRCm39) |
V72I |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,007,563 (GRCm39) |
M1V |
probably null |
Het |
| Zfp648 |
T |
C |
1: 154,080,914 (GRCm39) |
F358L |
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 |
|
|
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 |
|
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'- CCTGCTAAAATTGCAGCCTATG -3'
(R):5'- GTAACTAGCCCTCTGTTCAGC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TGTTCAGCCCCACGCAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation