Incidental Mutation 'R1988:Herc3'
ID |
222825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc3
|
Ensembl Gene |
ENSMUSG00000029804 |
Gene Name |
hect domain and RLD 3 |
Synonyms |
5730409F18Rik |
MMRRC Submission |
040000-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1988 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 58861960 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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9474 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
96% (79/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
2610021A01Rik |
C |
T |
7: 41,276,081 (GRCm39) |
R595* |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,836,414 (GRCm39) |
D724G |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
Akt1 |
T |
C |
12: 112,621,585 (GRCm39) |
I404V |
probably benign |
Het |
Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
Atoh1 |
T |
C |
6: 64,706,617 (GRCm39) |
V104A |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,822,437 (GRCm39) |
D1256G |
probably damaging |
Het |
C9 |
ATTTT |
ATTT |
15: 6,512,619 (GRCm39) |
|
probably null |
Het |
Cd164 |
A |
G |
10: 41,399,177 (GRCm39) |
T89A |
probably benign |
Het |
Cep350 |
G |
C |
1: 155,808,850 (GRCm39) |
N575K |
possibly damaging |
Het |
Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,468,572 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,204 (GRCm39) |
T801A |
probably damaging |
Het |
Cntnap5b |
A |
C |
1: 99,999,865 (GRCm39) |
K208Q |
possibly damaging |
Het |
Crx |
A |
T |
7: 15,603,272 (GRCm39) |
V107D |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,387,321 (GRCm39) |
F49S |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,408,248 (GRCm39) |
L228P |
possibly damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,616 (GRCm39) |
D626E |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,569 (GRCm39) |
T82A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,566,793 (GRCm39) |
T2478S |
possibly damaging |
Het |
Dnah3 |
T |
G |
7: 119,567,182 (GRCm39) |
D2348A |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,069,175 (GRCm39) |
I2504T |
probably damaging |
Het |
Dnase1l2 |
A |
C |
17: 24,660,625 (GRCm39) |
W138G |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,563,061 (GRCm39) |
I855N |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,098,903 (GRCm39) |
N759Y |
possibly damaging |
Het |
Dtx2 |
C |
T |
5: 136,061,147 (GRCm39) |
R510* |
probably null |
Het |
Fat4 |
G |
T |
3: 38,941,264 (GRCm39) |
M52I |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,050,239 (GRCm39) |
E4034K |
probably damaging |
Het |
Fezf2 |
T |
C |
14: 12,344,350 (GRCm38) |
K279R |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,806,861 (GRCm39) |
W1060L |
possibly damaging |
Het |
G6pc1 |
T |
A |
11: 101,258,768 (GRCm39) |
I49N |
probably damaging |
Het |
Gars1 |
A |
G |
6: 55,054,757 (GRCm39) |
E688G |
probably null |
Het |
Gdf11 |
T |
C |
10: 128,721,111 (GRCm39) |
N361S |
probably benign |
Het |
Gli3 |
A |
C |
13: 15,900,965 (GRCm39) |
M1451L |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,876,945 (GRCm39) |
I329T |
probably benign |
Het |
Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,080,002 (GRCm39) |
R513W |
probably damaging |
Het |
Kif7 |
G |
T |
7: 79,348,989 (GRCm39) |
H1195Q |
probably benign |
Het |
Lpcat4 |
T |
C |
2: 112,072,887 (GRCm39) |
V182A |
possibly damaging |
Het |
Map3k21 |
T |
A |
8: 126,654,294 (GRCm39) |
I371N |
probably benign |
Het |
Mns1 |
G |
A |
9: 72,356,041 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
G |
2: 22,468,140 (GRCm39) |
T465A |
possibly damaging |
Het |
Nlrc4 |
A |
T |
17: 74,733,938 (GRCm39) |
S992T |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,806,562 (GRCm39) |
G1833E |
possibly damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
Or52n2 |
T |
C |
7: 104,542,110 (GRCm39) |
T242A |
probably damaging |
Het |
Or5g29 |
G |
A |
2: 85,420,985 (GRCm39) |
V34I |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,993 (GRCm39) |
I194K |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,747,660 (GRCm39) |
T28S |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
Ppm1f |
T |
C |
16: 16,741,530 (GRCm39) |
S335P |
probably damaging |
Het |
Prr16 |
C |
T |
18: 51,436,349 (GRCm39) |
P276L |
probably damaging |
Het |
Rilp |
A |
G |
11: 75,401,759 (GRCm39) |
|
probably null |
Het |
Rspry1 |
A |
G |
8: 95,358,682 (GRCm39) |
|
probably null |
Het |
Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
Smyd5 |
T |
C |
6: 85,415,118 (GRCm39) |
I42T |
possibly damaging |
Het |
Stk17b |
T |
C |
1: 53,800,241 (GRCm39) |
N246D |
probably damaging |
Het |
Suco |
T |
C |
1: 161,646,380 (GRCm39) |
|
probably null |
Het |
Tecpr1 |
C |
T |
5: 144,141,515 (GRCm39) |
V785M |
possibly damaging |
Het |
Telo2 |
C |
T |
17: 25,320,642 (GRCm39) |
V756I |
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,943,034 (GRCm39) |
R602H |
probably benign |
Het |
Timeless |
A |
G |
10: 128,080,056 (GRCm39) |
T402A |
probably damaging |
Het |
Tnfaip2 |
T |
A |
12: 111,416,325 (GRCm39) |
|
probably null |
Het |
Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,828 (GRCm39) |
S414P |
probably damaging |
Het |
Txnip |
A |
G |
3: 96,467,066 (GRCm39) |
T247A |
possibly damaging |
Het |
Vmn1r174 |
A |
T |
7: 23,454,050 (GRCm39) |
T239S |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,887,480 (GRCm39) |
N982K |
probably benign |
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 |
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'- CTGTCTTTACCCATCAAAGCATG -3'
(R):5'- GGGCAATTCTGAACAAGCC -3'
Sequencing Primer
(F):5'- GTCTTTACCCATCAAAGCATGTTTTC -3'
(R):5'- TGCATCTGTAACTCGGCATCAG -3'
|
Posted On |
2014-08-25 |