Incidental Mutation 'R4757:Herc6'
| ID |
358231 |
| 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 |
041973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4757 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 57577045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031817
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
| 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 |
probably null
Transcript: ENSMUST00000031817
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
| 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: ENSMUST00000204455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204686
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
T |
9: 53,336,830 (GRCm39) |
M45L |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,787,632 (GRCm39) |
V978D |
probably damaging |
Het |
| Acsm4 |
T |
C |
7: 119,297,900 (GRCm39) |
V179A |
probably benign |
Het |
| Agtr1a |
C |
A |
13: 30,565,842 (GRCm39) |
Y302* |
probably null |
Het |
| Akap9 |
T |
C |
5: 4,058,382 (GRCm39) |
I1677T |
probably damaging |
Het |
| Ankk1 |
T |
A |
9: 49,327,230 (GRCm39) |
M650L |
probably benign |
Het |
| Apod |
T |
A |
16: 31,122,280 (GRCm39) |
N65Y |
probably damaging |
Het |
| Bcl2l1 |
T |
A |
2: 152,624,178 (GRCm39) |
N197Y |
possibly damaging |
Het |
| Brpf1 |
A |
T |
6: 113,292,072 (GRCm39) |
I373F |
probably damaging |
Het |
| Car13 |
T |
C |
3: 14,726,615 (GRCm39) |
V257A |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,317,874 (GRCm39) |
H271L |
possibly damaging |
Het |
| Cit |
T |
A |
5: 116,135,608 (GRCm39) |
I1836N |
probably damaging |
Het |
| Clec12b |
A |
G |
6: 129,357,655 (GRCm39) |
S68P |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,506,187 (GRCm39) |
F298L |
unknown |
Het |
| Crct1 |
G |
A |
3: 92,922,093 (GRCm39) |
Q15* |
probably null |
Het |
| Creld1 |
A |
G |
6: 113,469,208 (GRCm39) |
E346G |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,847,980 (GRCm39) |
H53L |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,285,814 (GRCm39) |
D74G |
probably damaging |
Het |
| Deptor |
A |
T |
15: 55,075,674 (GRCm39) |
S293C |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,728,592 (GRCm39) |
S187G |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,072 (GRCm39) |
V78L |
possibly damaging |
Het |
| Fem1al |
A |
T |
11: 29,775,454 (GRCm39) |
M1K |
probably null |
Het |
| Fhod1 |
C |
A |
8: 106,074,443 (GRCm39) |
|
probably benign |
Het |
| Foxf2 |
C |
T |
13: 31,810,172 (GRCm39) |
P37L |
unknown |
Het |
| Gabbr2 |
T |
C |
4: 46,875,675 (GRCm39) |
N149S |
probably damaging |
Het |
| Gckr |
G |
T |
5: 31,464,728 (GRCm39) |
M344I |
possibly damaging |
Het |
| Igf1 |
A |
T |
10: 87,751,287 (GRCm39) |
E161V |
probably benign |
Het |
| Ighv8-13 |
T |
A |
12: 115,729,268 (GRCm39) |
|
probably benign |
Het |
| Igkv6-14 |
A |
T |
6: 70,412,426 (GRCm39) |
L12* |
probably null |
Het |
| Kpnb1 |
C |
T |
11: 97,068,160 (GRCm39) |
S270N |
possibly damaging |
Het |
| Lingo1 |
A |
G |
9: 56,527,209 (GRCm39) |
V460A |
probably benign |
Het |
| Lsm6 |
T |
C |
8: 79,539,711 (GRCm39) |
|
probably null |
Het |
| Mccc1 |
C |
T |
3: 36,050,066 (GRCm39) |
G42E |
probably benign |
Het |
| Mga |
A |
G |
2: 119,734,120 (GRCm39) |
K323E |
possibly damaging |
Het |
| Mks1 |
A |
G |
11: 87,753,850 (GRCm39) |
*562W |
probably null |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,686 (GRCm39) |
E305V |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,585,024 (GRCm39) |
H360L |
probably damaging |
Het |
| Mthfsd |
C |
T |
8: 121,825,737 (GRCm39) |
|
probably null |
Het |
| Myl12a |
A |
T |
17: 71,303,798 (GRCm39) |
F26L |
possibly damaging |
Het |
| Nedd4l |
A |
G |
18: 65,298,676 (GRCm39) |
S343G |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,332 (GRCm39) |
D465V |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,490,507 (GRCm39) |
V407I |
possibly damaging |
Het |
| Npsr1 |
T |
C |
9: 24,046,064 (GRCm39) |
V61A |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,559,851 (GRCm39) |
D160G |
probably damaging |
Het |
| Or2p2 |
T |
C |
13: 21,256,715 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or52d3 |
T |
C |
7: 104,229,404 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Or5b107 |
A |
C |
19: 13,143,277 (GRCm39) |
S300R |
probably benign |
Het |
| Or5b113 |
G |
T |
19: 13,342,810 (GRCm39) |
A273S |
probably benign |
Het |
| Or9g4 |
A |
G |
2: 85,504,664 (GRCm39) |
F277S |
probably damaging |
Het |
| Pbx1 |
C |
A |
1: 168,023,450 (GRCm39) |
R235L |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,067 (GRCm39) |
V443A |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,423,688 (GRCm39) |
T63A |
probably benign |
Het |
| Phf3 |
C |
T |
1: 30,859,908 (GRCm39) |
G873D |
probably damaging |
Het |
| Phox2b |
A |
T |
5: 67,256,197 (GRCm39) |
Y30N |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,080,690 (GRCm39) |
I599F |
possibly damaging |
Het |
| Plekha8 |
A |
G |
6: 54,599,213 (GRCm39) |
E249G |
probably benign |
Het |
| Pou2af1 |
T |
A |
9: 51,144,439 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Ppp3cc |
T |
A |
14: 70,455,635 (GRCm39) |
K489N |
possibly damaging |
Het |
| Sema4b |
T |
C |
7: 79,866,577 (GRCm39) |
L219P |
probably damaging |
Het |
| Slc6a5 |
T |
G |
7: 49,609,030 (GRCm39) |
V745G |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,923,497 (GRCm39) |
M104V |
probably benign |
Het |
| Slx1b |
A |
G |
7: 126,291,701 (GRCm39) |
V121A |
probably benign |
Het |
| Speer4e2 |
T |
A |
5: 15,026,222 (GRCm39) |
H145L |
probably benign |
Het |
| Spen |
T |
A |
4: 141,200,390 (GRCm39) |
K2746* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,008,996 (GRCm39) |
Y681C |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,773,918 (GRCm39) |
T518A |
probably benign |
Het |
| Tgm7 |
A |
T |
2: 120,926,870 (GRCm39) |
H426Q |
possibly damaging |
Het |
| Tlx2 |
A |
G |
6: 83,046,900 (GRCm39) |
F54S |
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,286,339 (GRCm39) |
M1060L |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,630,148 (GRCm39) |
E647D |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,936,672 (GRCm39) |
K165N |
possibly damaging |
Het |
| Tyro3 |
A |
G |
2: 119,641,419 (GRCm39) |
K543E |
probably damaging |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,575 (GRCm39) |
Y133F |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,465,122 (GRCm39) |
V1785D |
possibly damaging |
Het |
| Zfp451 |
A |
G |
1: 33,804,939 (GRCm39) |
L1037P |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 120,991,392 (GRCm39) |
F799I |
possibly 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 |
|
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'- AGCCTCACTTTGTAGCCTAAACTG -3'
(R):5'- ACTTGTAAACCTGCTGGCACC -3'
Sequencing Primer
(F):5'- TTGTAGCCTAAACTGCTCTCAAAC -3'
(R):5'- GATTTCCCAGCCTCTAGAGCTATGAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation