Incidental Mutation 'R9427:Herc6'
| ID |
712671 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57636722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 813
(S813P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031817
AA Change: S813P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: S813P
| 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: 98.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,531,244 (GRCm39) |
L458P |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,526,068 (GRCm39) |
N130S |
|
Het |
| Adgrv1 |
T |
C |
13: 81,732,234 (GRCm39) |
S161G |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,903 (GRCm39) |
D153G |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,754,991 (GRCm39) |
S444N |
probably damaging |
Het |
| Bpifc |
A |
G |
10: 85,812,129 (GRCm39) |
F360L |
probably benign |
Het |
| Cacna1s |
A |
T |
1: 136,012,090 (GRCm39) |
I511F |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,806 (GRCm39) |
V584I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,589,445 (GRCm39) |
R1037G |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,816,992 (GRCm39) |
N440D |
unknown |
Het |
| Dsel |
A |
T |
1: 111,787,425 (GRCm39) |
Y1037N |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,748,935 (GRCm39) |
M1T |
probably null |
Het |
| Elp2 |
C |
G |
18: 24,755,560 (GRCm39) |
P436A |
probably damaging |
Het |
| Etv5 |
A |
C |
16: 22,218,112 (GRCm39) |
S328A |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,288,691 (GRCm39) |
Y277* |
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,644,160 (GRCm39) |
H899Q |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,583 (GRCm39) |
V128A |
|
Het |
| Gm3371 |
T |
C |
14: 44,641,066 (GRCm39) |
E166G |
|
Het |
| Ifnlr1 |
G |
A |
4: 135,426,142 (GRCm39) |
G75D |
probably damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,132 (GRCm39) |
C535S |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,288,913 (GRCm39) |
L577W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,358 (GRCm39) |
D590E |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,795,609 (GRCm39) |
S301T |
probably benign |
Het |
| Lrch1 |
A |
C |
14: 75,032,787 (GRCm39) |
V521G |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,368 (GRCm39) |
H235R |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,820,962 (GRCm39) |
S282P |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or2t1 |
G |
A |
14: 14,328,456 (GRCm38) |
G115D |
probably damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,206 (GRCm39) |
T259S |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,399,889 (GRCm39) |
V72A |
|
Het |
| Or5m13 |
T |
C |
2: 85,748,704 (GRCm39) |
V145A |
probably benign |
Het |
| Or7a41 |
C |
T |
10: 78,871,395 (GRCm39) |
T255I |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,682,906 (GRCm39) |
V281A |
probably damaging |
Het |
| Pira12 |
T |
G |
7: 3,897,284 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
T |
C |
7: 45,008,213 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Prdm5 |
T |
A |
6: 65,771,321 (GRCm39) |
M44K |
possibly damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,303 (GRCm39) |
I315T |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,440 (GRCm39) |
E27V |
probably benign |
Het |
| Rft1 |
T |
A |
14: 30,411,781 (GRCm39) |
I443N |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,214,001 (GRCm39) |
M40T |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tigit |
T |
C |
16: 43,482,515 (GRCm39) |
D73G |
probably benign |
Het |
| Tmem237 |
G |
A |
1: 59,159,213 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,247,874 (GRCm39) |
D274G |
probably damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,490 (GRCm39) |
L196I |
probably damaging |
Het |
| Tspan8 |
T |
C |
10: 115,669,213 (GRCm39) |
C83R |
probably damaging |
Het |
| Ttc7 |
CCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTG |
17: 87,678,147 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Unc80 |
G |
A |
1: 66,594,158 (GRCm39) |
G1179E |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,945 (GRCm39) |
S257P |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,748,418 (GRCm39) |
Y404* |
probably null |
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 |
|
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 |
|
|
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'- CACTATCAATGAGGTAGAGCAGAC -3'
(R):5'- AGGCACAGAGATCCCATCTG -3'
Sequencing Primer
(F):5'- GGTAGAGCAGACTAACAAATCAAATC -3'
(R):5'- TCCCATCTGGAATTAAATCAACATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation