Incidental Mutation 'R0268:Herc3'
ID |
35063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc3
|
Ensembl Gene |
ENSMUSG00000029804 |
Gene Name |
hect domain and RLD 3 |
Synonyms |
5730409F18Rik |
MMRRC Submission |
038494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0268 (G1)
|
Quality Score |
105 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 58845613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
|
AlphaFold |
A6H6S0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031823
|
SMART Domains |
Protein: ENSMUSP00000031823 Gene: ENSMUSG00000029804
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 |
probably benign
Transcript: ENSMUST00000041401
|
SMART Domains |
Protein: ENSMUSP00000040025 Gene: ENSMUSG00000029804
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 |
noncoding transcript
Transcript: ENSMUST00000122908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154290
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.7%
- 10x: 95.9%
- 20x: 93.0%
|
Validation Efficiency |
98% (93/95) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
T |
A |
7: 29,274,027 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4 |
A |
T |
4: 144,349,565 (GRCm39) |
H274L |
probably benign |
Het |
Aldh1a7 |
T |
A |
19: 20,686,866 (GRCm39) |
|
probably null |
Het |
Ap3m1 |
A |
C |
14: 21,087,170 (GRCm39) |
|
probably benign |
Het |
Atp5f1a |
C |
A |
18: 77,867,895 (GRCm39) |
N356K |
probably damaging |
Het |
AU021092 |
A |
T |
16: 5,040,031 (GRCm39) |
M31K |
possibly damaging |
Het |
Avpr1a |
T |
C |
10: 122,285,614 (GRCm39) |
V302A |
probably damaging |
Het |
Bicral |
A |
G |
17: 47,124,978 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
Casp8ap2 |
A |
T |
4: 32,644,079 (GRCm39) |
I1051F |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,899,125 (GRCm39) |
I196V |
probably benign |
Het |
Cdc42bpa |
G |
T |
1: 179,983,347 (GRCm39) |
|
probably benign |
Het |
Cdcp3 |
A |
G |
7: 130,839,905 (GRCm39) |
D609G |
probably damaging |
Het |
Clec16a |
T |
A |
16: 10,462,692 (GRCm39) |
L670* |
probably null |
Het |
Cmtm2b |
A |
G |
8: 105,049,066 (GRCm39) |
E27G |
probably damaging |
Het |
Col4a1 |
T |
A |
8: 11,317,588 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
T |
6: 84,551,554 (GRCm39) |
F221I |
probably damaging |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Dennd6b |
T |
C |
15: 89,080,432 (GRCm39) |
Q56R |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,687,186 (GRCm39) |
R1270H |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,503,011 (GRCm39) |
C73R |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,988,681 (GRCm39) |
D3217G |
probably damaging |
Het |
Dtx1 |
T |
C |
5: 120,819,356 (GRCm39) |
E614G |
probably damaging |
Het |
Dut |
C |
A |
2: 125,099,011 (GRCm39) |
A166E |
probably damaging |
Het |
Ebf1 |
C |
A |
11: 44,534,240 (GRCm39) |
D166E |
probably damaging |
Het |
Egln2 |
A |
T |
7: 26,864,672 (GRCm39) |
D84E |
possibly damaging |
Het |
Exosc7 |
T |
A |
9: 122,948,025 (GRCm39) |
S65T |
probably benign |
Het |
Fam83e |
G |
A |
7: 45,376,334 (GRCm39) |
R349Q |
probably benign |
Het |
Fbxl17 |
G |
A |
17: 63,692,062 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,884,868 (GRCm39) |
N2582S |
probably damaging |
Het |
Fubp1 |
T |
C |
3: 151,925,350 (GRCm39) |
V164A |
probably damaging |
Het |
Gfral |
A |
T |
9: 76,104,383 (GRCm39) |
C210S |
probably damaging |
Het |
Gls |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 52,271,853 (GRCm39) |
|
probably benign |
Het |
Hcn4 |
A |
C |
9: 58,767,445 (GRCm39) |
E1002A |
unknown |
Het |
Hcrtr2 |
A |
G |
9: 76,135,470 (GRCm39) |
V449A |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
Hectd1 |
C |
A |
12: 51,815,890 (GRCm39) |
S1394I |
probably damaging |
Het |
Hecw2 |
A |
G |
1: 53,965,857 (GRCm39) |
|
probably benign |
Het |
Ipo4 |
T |
C |
14: 55,863,399 (GRCm39) |
Q1073R |
possibly damaging |
Het |
Itsn2 |
G |
A |
12: 4,750,333 (GRCm39) |
R1199Q |
probably benign |
Het |
Kcnj3 |
C |
A |
2: 55,484,971 (GRCm39) |
Y356* |
probably null |
Het |
Klb |
T |
A |
5: 65,506,180 (GRCm39) |
D142E |
probably benign |
Het |
Klhl35 |
T |
A |
7: 99,120,958 (GRCm39) |
S409T |
probably benign |
Het |
Krt16 |
T |
A |
11: 100,137,351 (GRCm39) |
|
probably benign |
Het |
Krt82 |
C |
A |
15: 101,450,148 (GRCm39) |
R516L |
probably benign |
Het |
Lce3a |
A |
T |
3: 92,833,038 (GRCm39) |
C21S |
unknown |
Het |
Lims2 |
A |
G |
18: 32,077,573 (GRCm39) |
E103G |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,881 (GRCm39) |
K71* |
probably null |
Het |
Mthfr |
C |
G |
4: 148,139,885 (GRCm39) |
S618W |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,551,761 (GRCm39) |
R157* |
probably null |
Het |
Nat10 |
C |
A |
2: 103,558,262 (GRCm39) |
|
probably benign |
Het |
Obscn |
G |
A |
11: 58,958,098 (GRCm39) |
T3810M |
possibly damaging |
Het |
Or13a19 |
G |
A |
7: 139,903,068 (GRCm39) |
S152N |
possibly damaging |
Het |
Or1x6 |
T |
A |
11: 50,939,768 (GRCm39) |
M278K |
probably damaging |
Het |
Or5d35 |
A |
T |
2: 87,855,812 (GRCm39) |
I249F |
probably damaging |
Het |
Or5g29 |
A |
G |
2: 85,421,645 (GRCm39) |
T254A |
possibly damaging |
Het |
Or6c209 |
A |
T |
10: 129,483,045 (GRCm39) |
D16V |
possibly damaging |
Het |
Or7a38 |
C |
T |
10: 78,753,439 (GRCm39) |
T255I |
probably damaging |
Het |
Park7 |
A |
G |
4: 150,992,806 (GRCm39) |
V20A |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,263,151 (GRCm39) |
V266E |
probably damaging |
Het |
Phip |
G |
A |
9: 82,753,341 (GRCm39) |
T1801I |
probably damaging |
Het |
Pkhd1l1 |
C |
A |
15: 44,460,407 (GRCm39) |
H4205Q |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,109,242 (GRCm39) |
|
probably benign |
Het |
Pramel26 |
A |
T |
4: 143,537,338 (GRCm39) |
I331N |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,541,409 (GRCm39) |
D372E |
probably benign |
Het |
Ptprr |
G |
A |
10: 116,088,868 (GRCm39) |
V340I |
possibly damaging |
Het |
Qki |
A |
G |
17: 10,428,575 (GRCm39) |
|
probably benign |
Het |
Qpct |
T |
A |
17: 79,385,081 (GRCm39) |
D240E |
probably benign |
Het |
Ren1 |
A |
G |
1: 133,283,349 (GRCm39) |
T162A |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,980,298 (GRCm39) |
|
probably null |
Het |
Sart3 |
A |
G |
5: 113,890,460 (GRCm39) |
V461A |
probably damaging |
Het |
Saxo4 |
A |
G |
19: 10,454,449 (GRCm39) |
V329A |
possibly damaging |
Het |
Scgb1b24 |
G |
A |
7: 33,443,278 (GRCm39) |
G19R |
probably null |
Het |
Spen |
A |
T |
4: 141,204,868 (GRCm39) |
I1253N |
unknown |
Het |
Sspo |
C |
A |
6: 48,442,489 (GRCm39) |
H1995N |
probably benign |
Het |
Tfap2c |
A |
G |
2: 172,393,423 (GRCm39) |
T113A |
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,004,993 (GRCm39) |
|
probably null |
Het |
Trim65 |
T |
A |
11: 116,017,470 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
T |
A |
19: 22,874,885 (GRCm39) |
|
probably null |
Het |
Ubxn7 |
T |
C |
16: 32,178,864 (GRCm39) |
I87T |
probably benign |
Het |
Vav1 |
T |
C |
17: 57,603,090 (GRCm39) |
F81L |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,898,112 (GRCm39) |
T376A |
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,428,938 (GRCm39) |
C713S |
probably benign |
Het |
Zbtb45 |
C |
T |
7: 12,742,254 (GRCm39) |
M1I |
probably null |
Het |
Zfp229 |
A |
T |
17: 21,964,822 (GRCm39) |
M351L |
probably benign |
Het |
Zfp932 |
T |
C |
5: 110,156,929 (GRCm39) |
I176T |
probably benign |
Het |
Zswim1 |
G |
A |
2: 164,668,046 (GRCm39) |
E433K |
probably 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 |
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 |
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'- TGAAGAACAGCCTGCATCCTCG -3'
(R):5'- AGAGACATGACCTCCAGCTTTCCC -3'
Sequencing Primer
(F):5'- tctggagatgacactgagga -3'
(R):5'- CTTTCCCTAAGAGGGTGTCACAG -3'
|
Posted On |
2013-05-09 |