Incidental Mutation 'R5062:Herc3'
ID |
386678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc3
|
Ensembl Gene |
ENSMUSG00000029804 |
Gene Name |
hect domain and RLD 3 |
Synonyms |
5730409F18Rik |
MMRRC Submission |
042652-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5062 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 58832745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 137
(Q137*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
[ENSMUST00000126292]
[ENSMUST00000203714]
|
AlphaFold |
A6H6S0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031823
AA Change: Q137*
|
SMART Domains |
Protein: ENSMUSP00000031823 Gene: ENSMUSG00000029804 AA Change: Q137*
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
AA Change: Q137*
|
SMART Domains |
Protein: ENSMUSP00000040025 Gene: ENSMUSG00000029804 AA Change: Q137*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
Validation Efficiency |
100% (79/79) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,067,892 (GRCm39) |
I1593N |
probably benign |
Het |
Akr1b10 |
G |
T |
6: 34,369,041 (GRCm39) |
K173N |
probably damaging |
Het |
Artn |
A |
T |
4: 117,784,873 (GRCm39) |
L3Q |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,655,775 (GRCm39) |
S1262T |
possibly damaging |
Het |
Atp6v0a4 |
A |
T |
6: 38,051,118 (GRCm39) |
M420K |
probably benign |
Het |
Bcam |
T |
A |
7: 19,494,026 (GRCm39) |
T422S |
possibly damaging |
Het |
Casp2 |
C |
T |
6: 42,246,206 (GRCm39) |
|
probably benign |
Het |
Ccdc137 |
A |
G |
11: 120,353,341 (GRCm39) |
|
probably benign |
Het |
Cd177 |
C |
A |
7: 24,443,741 (GRCm39) |
A786S |
probably benign |
Het |
Cdca4 |
T |
C |
12: 112,785,483 (GRCm39) |
N82D |
probably benign |
Het |
Clu |
A |
C |
14: 66,217,177 (GRCm39) |
T337P |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,707,074 (GRCm39) |
I2013S |
unknown |
Het |
Cpne9 |
T |
A |
6: 113,281,449 (GRCm39) |
M510K |
probably damaging |
Het |
Cyp3a13 |
A |
C |
5: 137,897,161 (GRCm39) |
N384K |
possibly damaging |
Het |
Fam186a |
A |
C |
15: 99,842,527 (GRCm39) |
I1239S |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,233,236 (GRCm39) |
E413G |
possibly damaging |
Het |
Fscn2 |
A |
C |
11: 120,257,575 (GRCm39) |
Y312S |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,293,474 (GRCm39) |
C401* |
probably null |
Het |
Glyat |
A |
C |
19: 12,627,627 (GRCm39) |
Q74P |
probably damaging |
Het |
Gm6158 |
A |
T |
14: 24,120,158 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
G |
6: 110,623,097 (GRCm39) |
N90S |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,791,662 (GRCm39) |
C2536S |
probably damaging |
Het |
Kctd3 |
A |
C |
1: 188,727,890 (GRCm39) |
|
probably benign |
Het |
Klhl30 |
A |
G |
1: 91,283,300 (GRCm39) |
T301A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,156,072 (GRCm39) |
K228E |
possibly damaging |
Het |
Lamc3 |
A |
T |
2: 31,795,679 (GRCm39) |
T355S |
possibly damaging |
Het |
Lcmt1 |
A |
C |
7: 123,010,053 (GRCm39) |
|
probably null |
Het |
Limch1 |
C |
T |
5: 67,126,578 (GRCm39) |
P60S |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,377,528 (GRCm39) |
D203G |
probably damaging |
Het |
Mc5r |
T |
C |
18: 68,472,352 (GRCm39) |
L237P |
probably damaging |
Het |
Mknk2 |
G |
A |
10: 80,507,603 (GRCm39) |
R58W |
probably damaging |
Het |
Mrgpra2b |
T |
C |
7: 47,152,676 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Nae1 |
A |
T |
8: 105,243,334 (GRCm39) |
C395S |
possibly damaging |
Het |
Ncoa1 |
A |
G |
12: 4,309,333 (GRCm39) |
M1321T |
probably damaging |
Het |
Neb |
A |
C |
2: 52,170,513 (GRCm39) |
F1720V |
possibly damaging |
Het |
Nectin2 |
C |
T |
7: 19,472,198 (GRCm39) |
V64I |
probably benign |
Het |
Nisch |
T |
A |
14: 30,894,397 (GRCm39) |
T1145S |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,135,335 (GRCm39) |
R1009* |
probably null |
Het |
Or12d13 |
A |
T |
17: 37,647,822 (GRCm39) |
H100Q |
probably damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,894 (GRCm39) |
Y287N |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pak1ip1 |
A |
G |
13: 41,161,621 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,712,297 (GRCm39) |
V189A |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,167,573 (GRCm39) |
N118K |
probably damaging |
Het |
Phgdh |
T |
A |
3: 98,235,655 (GRCm39) |
I121F |
probably damaging |
Het |
Pi4ka |
G |
T |
16: 17,127,261 (GRCm39) |
A1064E |
probably benign |
Het |
Pkhd1 |
A |
C |
1: 20,655,935 (GRCm39) |
C199W |
probably benign |
Het |
Plat |
A |
G |
8: 23,262,327 (GRCm39) |
D117G |
probably benign |
Het |
Ppp2r2b |
C |
A |
18: 42,821,526 (GRCm39) |
V211L |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,294 (GRCm39) |
D60G |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,715,240 (GRCm39) |
E2776G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,059 (GRCm39) |
|
probably null |
Het |
Sharpin |
T |
C |
15: 76,231,811 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,100 (GRCm39) |
I164M |
possibly damaging |
Het |
Slco1a7 |
A |
C |
6: 141,713,180 (GRCm39) |
M67R |
possibly damaging |
Het |
Spef1 |
A |
G |
2: 131,015,201 (GRCm39) |
Y46H |
probably damaging |
Het |
Spns1 |
G |
A |
7: 125,973,501 (GRCm39) |
|
probably benign |
Het |
Supt5 |
C |
T |
7: 28,028,440 (GRCm39) |
|
probably null |
Het |
Tbx5 |
T |
A |
5: 119,974,987 (GRCm39) |
D3E |
probably damaging |
Het |
Thbs1 |
T |
C |
2: 117,951,718 (GRCm39) |
|
probably null |
Het |
Tmem140 |
G |
A |
6: 34,849,897 (GRCm39) |
V138M |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,869,813 (GRCm39) |
D152V |
probably damaging |
Het |
Tmem200b |
A |
G |
4: 131,649,848 (GRCm39) |
D256G |
probably damaging |
Het |
Tns1 |
A |
T |
1: 73,992,023 (GRCm39) |
L885Q |
probably damaging |
Het |
Umod |
G |
A |
7: 119,071,644 (GRCm39) |
Q366* |
probably null |
Het |
Vsir |
A |
G |
10: 60,200,042 (GRCm39) |
I208V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,479,671 (GRCm39) |
R616H |
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 |
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 |
|
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'- ACAGTAAGCTCTTAAGAGTCAGCC -3'
(R):5'- CACATCTCCAAGAAAGGATGCG -3'
Sequencing Primer
(F):5'- AGCTCTTAAGAGTCAGCCTAATG -3'
(R):5'- TCTCCAAGAAAGGATGCGATACACAG -3'
|
Posted On |
2016-06-06 |