Incidental Mutation 'R1945:Herc3'
ID |
216570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc3
|
Ensembl Gene |
ENSMUSG00000029804 |
Gene Name |
hect domain and RLD 3 |
Synonyms |
5730409F18Rik |
MMRRC Submission |
039963-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1945 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58864424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 686
(V686A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
[ENSMUST00000204629]
|
AlphaFold |
A6H6S0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031823
AA Change: V686A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031823 Gene: ENSMUSG00000029804 AA Change: V686A
Domain | Start | End | E-Value | Type |
Pfam:RCC1_2
|
36 |
65 |
3.3e-11 |
PFAM |
Pfam:RCC1
|
52 |
99 |
3.6e-15 |
PFAM |
Pfam:RCC1_2
|
86 |
115 |
1.1e-10 |
PFAM |
Pfam:RCC1
|
102 |
152 |
1.4e-16 |
PFAM |
Pfam:RCC1_2
|
139 |
168 |
2.1e-9 |
PFAM |
Pfam:RCC1
|
155 |
205 |
2.6e-16 |
PFAM |
Pfam:RCC1_2
|
193 |
221 |
1.5e-9 |
PFAM |
Pfam:RCC1
|
208 |
257 |
4.7e-17 |
PFAM |
Pfam:RCC1_2
|
244 |
273 |
8e-9 |
PFAM |
Pfam:RCC1
|
260 |
309 |
2.6e-16 |
PFAM |
Pfam:RCC1_2
|
296 |
326 |
2.3e-7 |
PFAM |
Pfam:RCC1
|
313 |
377 |
3.8e-9 |
PFAM |
HECTc
|
721 |
913 |
2.08e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041401
AA Change: V686A
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040025 Gene: ENSMUSG00000029804 AA Change: V686A
Domain | Start | End | E-Value | Type |
Pfam:RCC1_2
|
36 |
65 |
1.7e-11 |
PFAM |
Pfam:RCC1
|
52 |
99 |
1.6e-15 |
PFAM |
Pfam:RCC1_2
|
86 |
115 |
1.1e-10 |
PFAM |
Pfam:RCC1
|
102 |
152 |
7.3e-16 |
PFAM |
Pfam:RCC1_2
|
139 |
168 |
1.3e-9 |
PFAM |
Pfam:RCC1
|
155 |
205 |
1.4e-16 |
PFAM |
Pfam:RCC1_2
|
193 |
221 |
5e-10 |
PFAM |
Pfam:RCC1
|
208 |
257 |
1.4e-16 |
PFAM |
Pfam:RCC1_2
|
244 |
273 |
6.1e-8 |
PFAM |
Pfam:RCC1
|
260 |
309 |
1.7e-14 |
PFAM |
Pfam:RCC1_2
|
296 |
326 |
1.1e-7 |
PFAM |
Pfam:RCC1
|
313 |
377 |
6.6e-11 |
PFAM |
HECTc
|
721 |
1050 |
5.79e-157 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204629
|
SMART Domains |
Protein: ENSMUSP00000145319 Gene: ENSMUSG00000029804
Domain | Start | End | E-Value | Type |
Pfam:HECT
|
1 |
97 |
1.9e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,653,549 (GRCm39) |
I33V |
unknown |
Het |
Abca1 |
ACGTCTTCACCAGGTAATC |
AC |
4: 53,061,509 (GRCm39) |
|
probably null |
Het |
Amotl2 |
T |
C |
9: 102,597,753 (GRCm39) |
S171P |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,005,940 (GRCm39) |
E585V |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,682,710 (GRCm39) |
V34E |
probably benign |
Het |
Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
Bglap |
A |
G |
3: 88,290,971 (GRCm39) |
Y87H |
probably damaging |
Het |
Camk2n1 |
G |
A |
4: 138,184,094 (GRCm39) |
V78I |
possibly damaging |
Het |
Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,367,704 (GRCm39) |
Y208C |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,265,567 (GRCm39) |
R1455Q |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,621,100 (GRCm39) |
G26* |
probably null |
Het |
Cfap46 |
A |
G |
7: 139,259,819 (GRCm39) |
F217S |
probably damaging |
Het |
Col11a2 |
A |
T |
17: 34,278,142 (GRCm39) |
D691V |
probably damaging |
Het |
Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
Coq8b |
CGCA |
CGCAGCA |
7: 26,933,405 (GRCm39) |
|
probably benign |
Het |
Coq8b |
GCA |
GCAACA |
7: 26,933,406 (GRCm39) |
|
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,385,468 (GRCm39) |
D886G |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
Etaa1 |
A |
G |
11: 17,897,233 (GRCm39) |
C295R |
probably damaging |
Het |
Ghdc |
C |
T |
11: 100,660,031 (GRCm39) |
A239T |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,432,300 (GRCm39) |
D899G |
possibly damaging |
Het |
Hacd2 |
C |
A |
16: 34,922,354 (GRCm39) |
T181K |
possibly damaging |
Het |
Havcr2 |
T |
C |
11: 46,345,877 (GRCm39) |
L17P |
unknown |
Het |
Hyal3 |
T |
C |
9: 107,462,671 (GRCm39) |
L235P |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,884,279 (GRCm39) |
Q988* |
probably null |
Het |
Itprid2 |
T |
C |
2: 79,492,996 (GRCm39) |
V1181A |
probably benign |
Het |
Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,052,848 (GRCm39) |
S394T |
probably benign |
Het |
Lamp1 |
T |
C |
8: 13,222,545 (GRCm39) |
V243A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,492,504 (GRCm39) |
Y1315C |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,384,453 (GRCm39) |
L1148* |
probably null |
Het |
Mill2 |
A |
G |
7: 18,575,419 (GRCm39) |
H42R |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
Myo15b |
A |
T |
11: 115,769,224 (GRCm39) |
I1472F |
probably damaging |
Het |
Nasp |
T |
C |
4: 116,479,965 (GRCm39) |
S36G |
possibly damaging |
Het |
Nav2 |
A |
G |
7: 49,114,620 (GRCm39) |
Y868C |
probably damaging |
Het |
Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
Npc1l1 |
C |
T |
11: 6,175,199 (GRCm39) |
W592* |
probably null |
Het |
Nsg2 |
T |
C |
11: 32,005,068 (GRCm39) |
V90A |
probably damaging |
Het |
Odf4 |
T |
C |
11: 68,812,983 (GRCm39) |
N225S |
possibly damaging |
Het |
Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
Or1j12 |
T |
C |
2: 36,343,043 (GRCm39) |
W149R |
probably damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,128 (GRCm39) |
Y162C |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,441,921 (GRCm39) |
R410S |
probably damaging |
Het |
Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
Pik3ap1 |
A |
T |
19: 41,262,776 (GRCm39) |
S799T |
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,185 (GRCm39) |
N198S |
probably damaging |
Het |
Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,819,123 (GRCm39) |
R148* |
probably null |
Het |
Reep3 |
A |
G |
10: 66,871,678 (GRCm39) |
S97P |
probably damaging |
Het |
Rnase12 |
T |
A |
14: 51,294,463 (GRCm39) |
Q72L |
possibly damaging |
Het |
Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,520,520 (GRCm39) |
S127T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,506,324 (GRCm39) |
W1522R |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,309 (GRCm39) |
H211R |
probably damaging |
Het |
Septin10 |
C |
T |
10: 59,016,841 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
C |
13: 33,851,663 (GRCm39) |
V140A |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,198,960 (GRCm39) |
E457G |
probably benign |
Het |
Spag17 |
A |
C |
3: 99,847,298 (GRCm39) |
M76L |
probably benign |
Het |
Spata31e2 |
C |
A |
1: 26,721,395 (GRCm39) |
V1262F |
probably benign |
Het |
Spata31e3 |
C |
T |
13: 50,399,527 (GRCm39) |
G933E |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,466,707 (GRCm39) |
E105V |
possibly damaging |
Het |
Stoml3 |
T |
A |
3: 53,412,866 (GRCm39) |
D173E |
possibly damaging |
Het |
Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
Svil |
T |
C |
18: 5,117,059 (GRCm39) |
W2165R |
probably damaging |
Het |
Tbl2 |
T |
A |
5: 135,186,454 (GRCm39) |
S184T |
possibly damaging |
Het |
Tdrd7 |
A |
T |
4: 45,965,474 (GRCm39) |
T31S |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,614,960 (GRCm39) |
N139S |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,076,043 (GRCm39) |
R199G |
probably damaging |
Het |
Tshb |
G |
T |
3: 102,684,831 (GRCm39) |
Y124* |
probably null |
Het |
Ttn |
T |
C |
2: 76,560,366 (GRCm39) |
E29345G |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,223 (GRCm39) |
S620T |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,497,540 (GRCm39) |
G353R |
probably damaging |
Het |
Vipr1 |
G |
T |
9: 121,497,541 (GRCm39) |
G353V |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,062,192 (GRCm39) |
S240T |
probably damaging |
Het |
Zfp772 |
A |
G |
7: 7,206,629 (GRCm39) |
I354T |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,204,231 (GRCm39) |
Y86* |
probably null |
Het |
|
Other mutations in Herc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Herc3
|
APN |
6 |
58,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00423:Herc3
|
APN |
6 |
58,845,700 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00468:Herc3
|
APN |
6 |
58,895,751 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01153:Herc3
|
APN |
6 |
58,837,321 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01468:Herc3
|
APN |
6 |
58,831,880 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01696:Herc3
|
APN |
6 |
58,837,371 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01975:Herc3
|
APN |
6 |
58,893,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02797:Herc3
|
APN |
6 |
58,845,679 (GRCm39) |
missense |
probably benign |
|
IGL02953:Herc3
|
APN |
6 |
58,834,718 (GRCm39) |
nonsense |
probably null |
|
aegean
|
UTSW |
6 |
58,832,745 (GRCm39) |
nonsense |
probably null |
|
PIT4519001:Herc3
|
UTSW |
6 |
58,853,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R0019:Herc3
|
UTSW |
6 |
58,862,050 (GRCm39) |
splice site |
probably benign |
|
R0019:Herc3
|
UTSW |
6 |
58,862,050 (GRCm39) |
splice site |
probably benign |
|
R0025:Herc3
|
UTSW |
6 |
58,851,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Herc3
|
UTSW |
6 |
58,851,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0268:Herc3
|
UTSW |
6 |
58,845,613 (GRCm39) |
splice site |
probably benign |
|
R0334:Herc3
|
UTSW |
6 |
58,895,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Herc3
|
UTSW |
6 |
58,845,613 (GRCm39) |
splice site |
probably benign |
|
R0853:Herc3
|
UTSW |
6 |
58,853,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R0927:Herc3
|
UTSW |
6 |
58,845,748 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1333:Herc3
|
UTSW |
6 |
58,864,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Herc3
|
UTSW |
6 |
58,893,827 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1450:Herc3
|
UTSW |
6 |
58,853,500 (GRCm39) |
nonsense |
probably null |
|
R1594:Herc3
|
UTSW |
6 |
58,864,569 (GRCm39) |
unclassified |
probably benign |
|
R1757:Herc3
|
UTSW |
6 |
58,893,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Herc3
|
UTSW |
6 |
58,865,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R1932:Herc3
|
UTSW |
6 |
58,853,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R1988:Herc3
|
UTSW |
6 |
58,861,960 (GRCm39) |
critical splice donor site |
probably null |
|
R2172:Herc3
|
UTSW |
6 |
58,864,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R3080:Herc3
|
UTSW |
6 |
58,833,631 (GRCm39) |
splice site |
probably null |
|
R3545:Herc3
|
UTSW |
6 |
58,833,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R3767:Herc3
|
UTSW |
6 |
58,853,587 (GRCm39) |
missense |
probably benign |
0.00 |
R3767:Herc3
|
UTSW |
6 |
58,839,973 (GRCm39) |
missense |
probably benign |
|
R3805:Herc3
|
UTSW |
6 |
58,893,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Herc3
|
UTSW |
6 |
58,893,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R4049:Herc3
|
UTSW |
6 |
58,853,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R4250:Herc3
|
UTSW |
6 |
58,893,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R4469:Herc3
|
UTSW |
6 |
58,853,794 (GRCm39) |
nonsense |
probably null |
|
R4534:Herc3
|
UTSW |
6 |
58,837,332 (GRCm39) |
missense |
probably benign |
|
R4573:Herc3
|
UTSW |
6 |
58,871,098 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4887:Herc3
|
UTSW |
6 |
58,864,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5047:Herc3
|
UTSW |
6 |
58,832,745 (GRCm39) |
nonsense |
probably null |
|
R5049:Herc3
|
UTSW |
6 |
58,871,524 (GRCm39) |
splice site |
probably null |
|
R5062:Herc3
|
UTSW |
6 |
58,832,745 (GRCm39) |
nonsense |
probably null |
|
R5063:Herc3
|
UTSW |
6 |
58,832,745 (GRCm39) |
nonsense |
probably null |
|
R5288:Herc3
|
UTSW |
6 |
58,851,263 (GRCm39) |
missense |
probably damaging |
0.99 |
R5297:Herc3
|
UTSW |
6 |
58,833,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Herc3
|
UTSW |
6 |
58,851,263 (GRCm39) |
missense |
probably damaging |
0.99 |
R5435:Herc3
|
UTSW |
6 |
58,832,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Herc3
|
UTSW |
6 |
58,865,710 (GRCm39) |
missense |
probably benign |
0.08 |
R5605:Herc3
|
UTSW |
6 |
58,834,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Herc3
|
UTSW |
6 |
58,871,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5743:Herc3
|
UTSW |
6 |
58,895,784 (GRCm39) |
missense |
probably benign |
0.12 |
R5870:Herc3
|
UTSW |
6 |
58,893,435 (GRCm39) |
missense |
probably benign |
0.01 |
R6460:Herc3
|
UTSW |
6 |
58,867,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Herc3
|
UTSW |
6 |
58,893,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R7034:Herc3
|
UTSW |
6 |
58,853,840 (GRCm39) |
missense |
probably benign |
0.00 |
R7131:Herc3
|
UTSW |
6 |
58,864,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Herc3
|
UTSW |
6 |
58,833,616 (GRCm39) |
missense |
probably benign |
0.42 |
R7212:Herc3
|
UTSW |
6 |
58,895,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7335:Herc3
|
UTSW |
6 |
58,853,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7349:Herc3
|
UTSW |
6 |
58,835,971 (GRCm39) |
missense |
probably benign |
|
R7568:Herc3
|
UTSW |
6 |
58,820,795 (GRCm39) |
missense |
probably benign |
0.01 |
R7857:Herc3
|
UTSW |
6 |
58,820,637 (GRCm39) |
nonsense |
probably null |
|
R8321:Herc3
|
UTSW |
6 |
58,820,754 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8672:Herc3
|
UTSW |
6 |
58,850,786 (GRCm39) |
missense |
probably damaging |
0.96 |
R8684:Herc3
|
UTSW |
6 |
58,864,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Herc3
|
UTSW |
6 |
58,867,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8994:Herc3
|
UTSW |
6 |
58,851,328 (GRCm39) |
missense |
probably benign |
0.11 |
R9219:Herc3
|
UTSW |
6 |
58,871,552 (GRCm39) |
missense |
probably benign |
0.01 |
R9434:Herc3
|
UTSW |
6 |
58,853,846 (GRCm39) |
missense |
probably benign |
0.00 |
R9562:Herc3
|
UTSW |
6 |
58,835,999 (GRCm39) |
missense |
probably null |
0.01 |
R9565:Herc3
|
UTSW |
6 |
58,835,999 (GRCm39) |
missense |
probably null |
0.01 |
Z1176:Herc3
|
UTSW |
6 |
58,820,843 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTAACCTTCTTGAGTCCATATTAG -3'
(R):5'- AGCTCTGCTTGCTGCCATATG -3'
Sequencing Primer
(F):5'- AGCCATTTCTGGTGCTTC -3'
(R):5'- GCTGCCATATGCTTATAAGGTACTG -3'
|
Posted On |
2014-08-01 |