Incidental Mutation 'R6930:Herc3'
ID |
539940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc3
|
Ensembl Gene |
ENSMUSG00000029804 |
Gene Name |
hect domain and RLD 3 |
Synonyms |
5730409F18Rik |
MMRRC Submission |
045046-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6930 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 58893444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 902
(V902G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041401]
|
AlphaFold |
A6H6S0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041401
AA Change: V902G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040025 Gene: ENSMUSG00000029804 AA Change: V902G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
100% (63/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,466,563 (GRCm39) |
D156E |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
Akr1e1 |
T |
C |
13: 4,652,714 (GRCm39) |
D41G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,126,018 (GRCm39) |
I100V |
probably benign |
Het |
Atr |
T |
C |
9: 95,748,688 (GRCm39) |
I411T |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,230,764 (GRCm39) |
S453G |
probably benign |
Het |
Brdt |
C |
T |
5: 107,507,081 (GRCm39) |
L494F |
probably benign |
Het |
Ccser1 |
T |
C |
6: 62,357,009 (GRCm39) |
S816P |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,957,347 (GRCm39) |
I157T |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,484,759 (GRCm39) |
|
probably null |
Het |
Chst15 |
T |
C |
7: 131,870,759 (GRCm39) |
I259V |
possibly damaging |
Het |
Cracdl |
A |
T |
1: 37,664,026 (GRCm39) |
I624N |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 16,142,409 (GRCm39) |
M1498K |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,135,151 (GRCm39) |
D1343G |
probably damaging |
Het |
Denr |
T |
C |
5: 124,046,250 (GRCm39) |
Y27H |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,413,825 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,057,378 (GRCm39) |
F1819S |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,108,642 (GRCm39) |
Y223* |
probably null |
Het |
Fry |
T |
C |
5: 150,351,695 (GRCm39) |
L1733P |
probably benign |
Het |
Gabrb2 |
T |
C |
11: 42,488,440 (GRCm39) |
V302A |
probably damaging |
Het |
Gimap9 |
G |
A |
6: 48,654,601 (GRCm39) |
D53N |
probably damaging |
Het |
Gje1 |
G |
T |
10: 14,593,886 (GRCm39) |
L3I |
possibly damaging |
Het |
Gm49383 |
G |
T |
12: 69,239,586 (GRCm39) |
A645E |
probably damaging |
Het |
Gm8947 |
G |
A |
1: 151,068,347 (GRCm39) |
G60D |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,405,106 (GRCm39) |
|
probably null |
Het |
Hace1 |
A |
G |
10: 45,494,598 (GRCm39) |
H136R |
probably damaging |
Het |
Hspbp1 |
T |
C |
7: 4,687,606 (GRCm39) |
R2G |
probably benign |
Het |
Iqch |
T |
A |
9: 63,387,856 (GRCm39) |
K811N |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,753,962 (GRCm39) |
|
probably benign |
Het |
Lonrf2 |
A |
T |
1: 38,843,417 (GRCm39) |
V372D |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,551,786 (GRCm39) |
Y729H |
probably damaging |
Het |
Lrrc32 |
A |
G |
7: 98,148,471 (GRCm39) |
N417S |
possibly damaging |
Het |
Malrd1 |
T |
A |
2: 15,802,478 (GRCm39) |
C1064S |
unknown |
Het |
Mast3 |
G |
A |
8: 71,252,115 (GRCm39) |
R20* |
probably null |
Het |
Mypn |
A |
C |
10: 62,952,718 (GRCm39) |
I174S |
probably damaging |
Het |
Nrg1 |
G |
A |
8: 32,308,534 (GRCm39) |
T505M |
probably damaging |
Het |
Or13p8 |
A |
G |
4: 118,584,338 (GRCm39) |
K298R |
probably damaging |
Het |
Or6y1 |
A |
G |
1: 174,276,677 (GRCm39) |
I163V |
probably damaging |
Het |
Or7a42 |
A |
G |
10: 78,791,615 (GRCm39) |
D192G |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,395 (GRCm39) |
Y266H |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,850,958 (GRCm39) |
E1132G |
probably damaging |
Het |
Pla2g4d |
A |
T |
2: 120,101,114 (GRCm39) |
M521K |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,913,770 (GRCm39) |
H1164R |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,592 (GRCm39) |
V1218A |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,191,630 (GRCm39) |
S119P |
probably benign |
Het |
Pole |
T |
A |
5: 110,441,156 (GRCm39) |
D203E |
probably benign |
Het |
Rapgefl1 |
T |
A |
11: 98,737,947 (GRCm39) |
L387Q |
probably damaging |
Het |
Rbm33 |
T |
C |
5: 28,557,504 (GRCm39) |
I199T |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rufy1 |
C |
A |
11: 50,289,207 (GRCm39) |
R545L |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,690,699 (GRCm39) |
D1117V |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,815,141 (GRCm39) |
V621A |
possibly damaging |
Het |
Sparcl1 |
T |
A |
5: 104,234,940 (GRCm39) |
Y525F |
probably damaging |
Het |
Spon2 |
A |
G |
5: 33,373,771 (GRCm39) |
V180A |
probably benign |
Het |
Trav10n |
G |
A |
14: 53,359,947 (GRCm39) |
V75M |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,923,543 (GRCm39) |
L84P |
probably damaging |
Het |
Vmn1r23 |
C |
T |
6: 57,903,130 (GRCm39) |
R216K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,364 (GRCm39) |
T595A |
probably benign |
Het |
Vmn2r66 |
T |
A |
7: 84,661,216 (GRCm39) |
I5F |
possibly damaging |
Het |
Zfp879 |
C |
T |
11: 50,723,839 (GRCm39) |
G406R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,713,869 (GRCm39) |
D261V |
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 |
|
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 |
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'- TACTACAGGATGCAGGATGCC -3'
(R):5'- GGAGACCTCTAGCAACTACTCAAG -3'
Sequencing Primer
(F):5'- TGCCTGACAAAAGACTGTGTC -3'
(R):5'- ATGTGAAGACCAGGTCCTCTG -3'
|
Posted On |
2018-11-06 |