Incidental Mutation 'R5435:Herc3'
| ID |
428254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc3
|
| Ensembl Gene |
ENSMUSG00000029804 |
| Gene Name |
hect domain and RLD 3 |
| Synonyms |
5730409F18Rik |
| MMRRC Submission |
043000-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58832791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 152
(L152Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
[ENSMUST00000126292]
[ENSMUST00000203714]
|
| AlphaFold |
A6H6S0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031823
AA Change: L152Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: L152Q
| 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 damaging
Transcript: ENSMUST00000041401
AA Change: L152Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: L152Q
| 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: ENSMUST00000126292
|
| SMART Domains |
Protein: ENSMUSP00000122401
Gene: ENSMUSG00000029804
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1_2
|
36 |
65 |
1.5e-12 |
PFAM |
|
Pfam:RCC1
|
52 |
77 |
1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203714
|
| SMART Domains |
Protein: ENSMUSP00000145273
Gene: ENSMUSG00000029804
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
1 |
49 |
1.2e-4 |
PFAM |
|
Pfam:RCC1_2
|
36 |
65 |
1.8e-10 |
PFAM |
|
Pfam:RCC1
|
52 |
76 |
7.2e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (74/74) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,413 (GRCm39) |
F851L |
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,486,588 (GRCm39) |
V1480I |
possibly damaging |
Het |
| Acsbg1 |
G |
T |
9: 54,523,153 (GRCm39) |
Y491* |
probably null |
Het |
| Acsf3 |
T |
A |
8: 123,507,020 (GRCm39) |
N104K |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,585,612 (GRCm39) |
Y400H |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,147,468 (GRCm39) |
T524M |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,902,198 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,204,561 (GRCm39) |
Y321C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,552 (GRCm39) |
Y329N |
probably damaging |
Het |
| Aph1c |
A |
T |
9: 66,741,783 (GRCm39) |
I33N |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,171,575 (GRCm39) |
E491G |
probably benign |
Het |
| Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,376,776 (GRCm39) |
L856P |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,493,519 (GRCm39) |
D30V |
probably damaging |
Het |
| Ccdc116 |
G |
T |
16: 16,960,626 (GRCm39) |
H64N |
probably benign |
Het |
| Ccl12 |
T |
C |
11: 81,994,001 (GRCm39) |
I86T |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,898,391 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
T |
A |
1: 82,431,728 (GRCm39) |
I1519F |
unknown |
Het |
| Ddx19b |
T |
C |
8: 111,735,458 (GRCm39) |
Q416R |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,037,121 (GRCm39) |
M3374L |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,807 (GRCm39) |
I119F |
probably damaging |
Het |
| Ensa |
C |
A |
3: 95,529,769 (GRCm39) |
|
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxf1 |
G |
A |
8: 121,811,231 (GRCm39) |
G32S |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,030,995 (GRCm39) |
|
probably benign |
Het |
| Gm13599 |
T |
A |
2: 67,226,496 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
A |
G |
13: 24,936,084 (GRCm39) |
S197P |
probably benign |
Het |
| Guf1 |
A |
T |
5: 69,720,512 (GRCm39) |
H324L |
probably benign |
Het |
| H2-Q6 |
A |
G |
17: 35,644,661 (GRCm39) |
D150G |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,797,682 (GRCm39) |
S13A |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,283 (GRCm39) |
F46L |
probably benign |
Het |
| Kank1 |
T |
G |
19: 25,388,507 (GRCm39) |
S727A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,578,472 (GRCm39) |
Y201* |
probably null |
Het |
| Lyst |
A |
T |
13: 13,951,649 (GRCm39) |
H3750L |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,615,447 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,201,724 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
C |
T |
15: 77,653,809 (GRCm39) |
V1280I |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,388 (GRCm39) |
T32S |
probably benign |
Het |
| Nol7 |
C |
A |
13: 43,554,848 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,814 (GRCm39) |
N21I |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,652 (GRCm39) |
D378G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,113,770 (GRCm39) |
S694P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,805,696 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
T |
G |
6: 139,661,581 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,617,682 (GRCm39) |
R247G |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,398 (GRCm39) |
I319T |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa3 |
T |
C |
8: 13,681,811 (GRCm39) |
E46G |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,422,013 (GRCm39) |
H304Q |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,668,975 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,878 (GRCm39) |
E1783V |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,835,603 (GRCm39) |
N151S |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 55,916,246 (GRCm39) |
A1191S |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,979 (GRCm39) |
R140S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,958 (GRCm39) |
Y2565C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,744,702 (GRCm39) |
V5449D |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,985 (GRCm39) |
P893S |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,742,268 (GRCm39) |
F2325S |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,951 (GRCm39) |
D352G |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,374,960 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
A |
5: 137,402,024 (GRCm39) |
T4023S |
unknown |
Het |
| Zfp735 |
T |
A |
11: 73,602,939 (GRCm39) |
C628S |
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 |
|
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'- AGCTCTTAAGAGTCAGCCTAATG -3'
(R):5'- TTTTCCGTAAGAGCCGAAACAG -3'
Sequencing Primer
(F):5'- GTCAGCCTAATGAAAACTCTAGTAG -3'
(R):5'- CGTAAGAGCCGAAACAGCAACG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation