Incidental Mutation 'R0344:Herc3'
| ID |
26430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc3
|
| Ensembl Gene |
ENSMUSG00000029804 |
| Gene Name |
hect domain and RLD 3 |
| Synonyms |
5730409F18Rik |
| MMRRC Submission |
038551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0344 (G1)
|
| Quality Score |
186 |
|
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: 99.0%
- 3x: 98.2%
- 10x: 96.3%
- 20x: 93.6%
|
| Validation Efficiency |
99% (81/82) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553J12Rik |
T |
A |
16: 88,617,189 (GRCm39) |
C29* |
probably null |
Het |
| Abca4 |
G |
A |
3: 121,877,613 (GRCm39) |
C324Y |
probably damaging |
Het |
| Ablim2 |
T |
G |
5: 35,994,277 (GRCm39) |
|
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,870 (GRCm39) |
V115E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,571,231 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,013 (GRCm39) |
S936T |
probably benign |
Het |
| Agap3 |
T |
C |
5: 24,656,200 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
T |
A |
13: 74,362,705 (GRCm39) |
S393C |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,713,998 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
C |
A |
6: 118,484,598 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,668 (GRCm39) |
V886I |
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 |
| Bicral |
A |
G |
17: 47,124,978 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C3ar1 |
T |
C |
6: 122,827,731 (GRCm39) |
D162G |
probably benign |
Het |
| Camkk2 |
C |
T |
5: 122,901,940 (GRCm39) |
C123Y |
probably benign |
Het |
| Casp8ap2 |
A |
T |
4: 32,644,079 (GRCm39) |
I1051F |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,965 (GRCm39) |
V544E |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,417,817 (GRCm39) |
|
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Dennd6b |
T |
C |
15: 89,080,432 (GRCm39) |
Q56R |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,787,663 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,692,062 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,925,350 (GRCm39) |
V164A |
probably damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,572 (GRCm39) |
G165S |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,219,328 (GRCm39) |
K352E |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,513 (GRCm39) |
F45L |
probably damaging |
Het |
| Ipo4 |
T |
C |
14: 55,863,399 (GRCm39) |
Q1073R |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,008,973 (GRCm39) |
K485E |
probably benign |
Het |
| Jak2 |
G |
A |
19: 29,261,029 (GRCm39) |
V342I |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,859,666 (GRCm39) |
Q297K |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,077,573 (GRCm39) |
E103G |
probably benign |
Het |
| Mthfr |
C |
G |
4: 148,139,885 (GRCm39) |
S618W |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,644,185 (GRCm39) |
V727A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,881,152 (GRCm39) |
E313A |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,646 (GRCm39) |
C208Y |
probably damaging |
Het |
| Or52b2 |
C |
A |
7: 104,986,814 (GRCm39) |
M36I |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,726 (GRCm39) |
C188* |
probably null |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,992,806 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,566 (GRCm39) |
T201A |
probably benign |
Het |
| Phldb1 |
C |
A |
9: 44,612,964 (GRCm39) |
V919L |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,460,407 (GRCm39) |
H4205Q |
probably benign |
Het |
| Plekhg3 |
G |
T |
12: 76,613,040 (GRCm39) |
E449* |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,537,338 (GRCm39) |
I331N |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,033,929 (GRCm39) |
V301A |
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,081,636 (GRCm39) |
R22H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,541,443 (GRCm39) |
V361A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,714 (GRCm39) |
V1309E |
possibly damaging |
Het |
| Rere |
T |
C |
4: 150,695,438 (GRCm39) |
|
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,970,404 (GRCm39) |
T322S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,335,354 (GRCm39) |
I1203L |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,233,442 (GRCm39) |
|
probably benign |
Het |
| Sik3 |
C |
A |
9: 46,120,109 (GRCm39) |
Q683K |
probably damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,927,621 (GRCm39) |
I307V |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,647 (GRCm39) |
D306G |
probably damaging |
Het |
| Snx13 |
G |
A |
12: 35,136,899 (GRCm39) |
W120* |
probably null |
Het |
| Snx5 |
A |
G |
2: 144,099,128 (GRCm39) |
|
probably benign |
Het |
| Srsf5 |
T |
C |
12: 80,994,298 (GRCm39) |
S76P |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,629,186 (GRCm39) |
D31G |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,956,709 (GRCm39) |
M333T |
probably benign |
Het |
| Taf6 |
T |
G |
5: 138,179,409 (GRCm39) |
I377L |
probably benign |
Het |
| Taf8 |
G |
T |
17: 47,804,505 (GRCm39) |
N252K |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,423 (GRCm39) |
T113A |
probably benign |
Het |
| Tmtc4 |
C |
T |
14: 123,215,572 (GRCm39) |
V25M |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,886 (GRCm39) |
D841E |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,185,932 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,542,833 (GRCm39) |
D33384E |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,067 (GRCm39) |
E928G |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,090 (GRCm39) |
F81L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,042 (GRCm39) |
I738T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,806 (GRCm39) |
E87K |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,964,822 (GRCm39) |
M351L |
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 |
|
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 |
2013-04-16 |
Incidental Mutation