Incidental Mutation 'R7335:Herc3'
| ID |
569428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc3
|
| Ensembl Gene |
ENSMUSG00000029804 |
| Gene Name |
hect domain and RLD 3 |
| Synonyms |
5730409F18Rik |
| MMRRC Submission |
045372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58853773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 606
(H606Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
|
| AlphaFold |
A6H6S0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031823
AA Change: H606Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: H606Q
| 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: H606Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: H606Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,493,093 (GRCm39) |
S35G |
probably benign |
Het |
| Adcy6 |
G |
T |
15: 98,501,757 (GRCm39) |
Q286K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,260,989 (GRCm39) |
S676P |
probably damaging |
Het |
| Arpp21 |
A |
T |
9: 112,005,319 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,711,217 (GRCm39) |
M74V |
probably benign |
Het |
| C1rb |
A |
T |
6: 124,552,238 (GRCm39) |
I319F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,071,810 (GRCm39) |
V629A |
|
Het |
| Cacna1i |
T |
G |
15: 80,259,776 (GRCm39) |
F1287C |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,926,074 (GRCm39) |
I247V |
probably benign |
Het |
| Cd101 |
C |
G |
3: 100,926,045 (GRCm39) |
A229P |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,140,895 (GRCm39) |
D3151G |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,182,212 (GRCm39) |
K557N |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,954,091 (GRCm39) |
T416M |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,628,451 (GRCm39) |
C164* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,544,396 (GRCm39) |
E179G |
probably benign |
Het |
| Duoxa2 |
A |
T |
2: 122,131,821 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,829 (GRCm39) |
K2569R |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,813,462 (GRCm39) |
H3260Q |
probably benign |
Het |
| Gm3402 |
T |
C |
5: 146,452,043 (GRCm39) |
I121T |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,282,169 (GRCm39) |
V1927A |
possibly damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,924 (GRCm39) |
H347R |
possibly damaging |
Het |
| Hs3st3a1 |
A |
G |
11: 64,411,163 (GRCm39) |
T234A |
probably benign |
Het |
| Hyal1 |
G |
T |
9: 107,456,359 (GRCm39) |
V379L |
probably benign |
Het |
| Ighv1-19 |
A |
G |
12: 114,672,571 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
A |
4: 129,510,501 (GRCm39) |
Q338L |
not run |
Het |
| Kdm5b |
T |
C |
1: 134,488,177 (GRCm39) |
V34A |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,540,571 (GRCm39) |
F225L |
probably benign |
Het |
| Lmtk3 |
C |
T |
7: 45,444,581 (GRCm39) |
T1088I |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,030,524 (GRCm39) |
S1143C |
unknown |
Het |
| Mapk4 |
A |
T |
18: 74,070,338 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,925 (GRCm39) |
Q862R |
possibly damaging |
Het |
| Ncam1 |
A |
G |
9: 49,418,211 (GRCm39) |
S1030P |
|
Het |
| Nynrin |
A |
T |
14: 56,101,371 (GRCm39) |
T347S |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,219 (GRCm39) |
T532A |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,389 (GRCm39) |
E207G |
probably damaging |
Het |
| Pde6h |
T |
C |
6: 136,940,211 (GRCm39) |
W66R |
probably damaging |
Het |
| Pmaip1 |
T |
C |
18: 66,591,885 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
A |
G |
17: 79,261,995 (GRCm39) |
F774S |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,042 (GRCm39) |
R134S |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,793,335 (GRCm39) |
H495Q |
probably damaging |
Het |
| Ptprj |
G |
T |
2: 90,271,126 (GRCm39) |
Q1201K |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,447 (GRCm39) |
S1678G |
probably benign |
Het |
| Sez6l |
G |
T |
5: 112,724,678 (GRCm39) |
|
probably null |
Het |
| Sgcg |
T |
A |
14: 61,477,816 (GRCm39) |
Y91F |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,415 (GRCm39) |
L93F |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,126,771 (GRCm39) |
D99E |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,090 (GRCm39) |
I694T |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,736,911 (GRCm39) |
I305N |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,769 (GRCm39) |
V178D |
probably benign |
Het |
| Suclg2 |
G |
A |
6: 95,543,444 (GRCm39) |
A329V |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,543,441 (GRCm39) |
N330I |
probably damaging |
Het |
| Tas2r118 |
C |
T |
6: 23,969,749 (GRCm39) |
C104Y |
probably damaging |
Het |
| Tom1l2 |
T |
G |
11: 60,135,991 (GRCm39) |
E327D |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,910,572 (GRCm39) |
M57T |
possibly damaging |
Het |
| Vav1 |
G |
A |
17: 57,603,720 (GRCm39) |
S134N |
probably benign |
Het |
| Vmn2r82 |
T |
C |
10: 79,214,722 (GRCm39) |
L235P |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,379 (GRCm39) |
V441E |
possibly damaging |
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 |
|
R1945:Herc3
|
UTSW |
6 |
58,864,424 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- AAGACATTCCTAATCCCGGTAC -3'
(R):5'- GCAAGGTGTATGGCTCAAGTG -3'
Sequencing Primer
(F):5'- CCCGGTACTGTTTAACAACTACATG -3'
(R):5'- ATGGCTCAAGTGCACGATTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation