Incidental Mutation 'R7287:Herc6'
ID |
574673 |
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 |
045321-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7287 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 57628965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,604,861 (GRCm39) |
D656G |
possibly damaging |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,762,534 (GRCm39) |
H1209R |
probably damaging |
Het |
Adam26a |
T |
C |
8: 44,023,380 (GRCm39) |
T37A |
possibly damaging |
Het |
Adamts9 |
C |
T |
6: 92,866,984 (GRCm39) |
R685Q |
possibly damaging |
Het |
Anapc7 |
T |
A |
5: 122,571,499 (GRCm39) |
N191K |
probably benign |
Het |
Ankrd26 |
C |
T |
6: 118,526,598 (GRCm39) |
|
probably null |
Het |
Ap5z1 |
T |
C |
5: 142,459,802 (GRCm39) |
L484P |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,063,993 (GRCm39) |
D77G |
|
Het |
Atp10a |
T |
A |
7: 58,477,017 (GRCm39) |
D1213E |
probably damaging |
Het |
B3gnt8 |
T |
C |
7: 25,328,395 (GRCm39) |
L275P |
probably damaging |
Het |
Bltp2 |
G |
A |
11: 78,163,709 (GRCm39) |
R1059H |
possibly damaging |
Het |
Cab39 |
A |
G |
1: 85,746,182 (GRCm39) |
E21G |
probably benign |
Het |
Capn15 |
G |
T |
17: 26,179,429 (GRCm39) |
S948R |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,973,154 (GRCm39) |
T15A |
unknown |
Het |
Ccdc81 |
C |
T |
7: 89,542,331 (GRCm39) |
A182T |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,922,688 (GRCm39) |
H766R |
probably benign |
Het |
Cfl1 |
T |
C |
19: 5,542,562 (GRCm39) |
V14A |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,850,312 (GRCm39) |
I875T |
probably benign |
Het |
Cidec |
T |
A |
6: 113,405,359 (GRCm39) |
E121D |
probably benign |
Het |
Clpx |
C |
A |
9: 65,207,295 (GRCm39) |
Y64* |
probably null |
Het |
Cntn1 |
T |
A |
15: 92,143,833 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,826 (GRCm39) |
L472P |
probably damaging |
Het |
Dcdc2c |
G |
T |
12: 28,566,685 (GRCm39) |
D159E |
probably benign |
Het |
Emp1 |
T |
C |
6: 135,357,167 (GRCm39) |
F82L |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,404 (GRCm39) |
T619A |
probably benign |
Het |
Fgf15 |
A |
T |
7: 144,450,531 (GRCm39) |
D39V |
probably benign |
Het |
Galnt12 |
T |
G |
4: 47,108,525 (GRCm39) |
F221V |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,256,867 (GRCm39) |
V1537I |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,025,154 (GRCm39) |
|
probably null |
Het |
Insr |
G |
A |
8: 3,219,717 (GRCm39) |
T935I |
probably benign |
Het |
Itgax |
G |
A |
7: 127,747,677 (GRCm39) |
C1031Y |
probably damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Kmt5b |
T |
C |
19: 3,854,501 (GRCm39) |
Y255H |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,877 (GRCm39) |
Y292N |
probably benign |
Het |
Mrpl37 |
A |
G |
4: 106,917,717 (GRCm39) |
F318S |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,070,076 (GRCm39) |
N311D |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp9b |
T |
C |
7: 19,762,381 (GRCm39) |
C673R |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
Plce1 |
A |
T |
19: 38,690,347 (GRCm39) |
Q677L |
probably benign |
Het |
Pmel |
C |
T |
10: 128,551,095 (GRCm39) |
Q113* |
probably null |
Het |
Pom121l2 |
T |
A |
13: 22,168,502 (GRCm39) |
F924L |
probably benign |
Het |
Poteg |
G |
A |
8: 27,943,372 (GRCm39) |
R214K |
probably null |
Het |
Pprc1 |
G |
T |
19: 46,059,793 (GRCm39) |
S1480I |
unknown |
Het |
Secisbp2l |
A |
G |
2: 125,582,289 (GRCm39) |
S1056P |
probably benign |
Het |
Selenoo |
T |
C |
15: 88,982,903 (GRCm39) |
F477L |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,536,181 (GRCm39) |
D211G |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,253,752 (GRCm39) |
D131G |
probably benign |
Het |
Tcf25 |
G |
A |
8: 124,100,711 (GRCm39) |
A34T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,205,818 (GRCm39) |
Y530H |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmem132d |
G |
T |
5: 128,061,415 (GRCm39) |
Q396K |
probably damaging |
Het |
Tmem154 |
A |
G |
3: 84,597,870 (GRCm39) |
T136A |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,742 (GRCm39) |
T415A |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,517,925 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
T |
C |
7: 4,128,657 (GRCm39) |
Y185H |
probably benign |
Het |
Ufl1 |
T |
A |
4: 25,254,852 (GRCm39) |
T535S |
probably benign |
Het |
Vmn1r15 |
T |
C |
6: 57,235,201 (GRCm39) |
L23P |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,040 (GRCm39) |
H78L |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,871,460 (GRCm39) |
T608A |
probably benign |
Het |
Vwf |
A |
G |
6: 125,614,430 (GRCm39) |
I1104V |
|
Het |
Zbtb2 |
C |
T |
10: 4,318,986 (GRCm39) |
D347N |
possibly damaging |
Het |
Zfyve9 |
A |
T |
4: 108,575,453 (GRCm39) |
S543T |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,692 (GRCm39) |
N518S |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,775 (GRCm39) |
V852A |
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 |
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 |
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'- GTATACAGAACACTGGCATCAAGAC -3'
(R):5'- TAAGGTCAAAGTCTTCCACTTGTC -3'
Sequencing Primer
(F):5'- TTCCAGCACTCAGAAGGTTG -3'
(R):5'- CCACTTGTCTTAATTGACGCAATGTG -3'
|
Posted On |
2019-10-02 |