Incidental Mutation 'R5870:Herc3'
| ID |
455120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc3
|
| Ensembl Gene |
ENSMUSG00000029804 |
| Gene Name |
hect domain and RLD 3 |
| Synonyms |
5730409F18Rik |
| MMRRC Submission |
044078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58808450-58897383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58893435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 899
(Q899L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041401]
|
| AlphaFold |
A6H6S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041401
AA Change: Q899L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: Q899L
| 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: ENSMUST00000131132
|
| Meta Mutation Damage Score |
0.2634 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
93% (84/90) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,232 (GRCm39) |
V156A |
probably damaging |
Het |
| Ak6 |
C |
A |
13: 100,791,932 (GRCm39) |
P125Q |
probably damaging |
Het |
| Aqp4 |
A |
C |
18: 15,532,946 (GRCm39) |
V49G |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,251,163 (GRCm39) |
I874T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,387 (GRCm39) |
D2040G |
unknown |
Het |
| Atp1a3 |
T |
G |
7: 24,697,003 (GRCm39) |
D220A |
probably benign |
Het |
| C2cd4c |
A |
T |
10: 79,448,043 (GRCm39) |
I368N |
possibly damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,394 (GRCm39) |
Q625* |
probably null |
Het |
| Cd177 |
T |
A |
7: 24,455,757 (GRCm39) |
H255L |
probably benign |
Het |
| Cdipt |
G |
A |
7: 126,578,094 (GRCm39) |
V114M |
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,199,384 (GRCm39) |
H14Q |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,451,901 (GRCm39) |
D158V |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,503,545 (GRCm39) |
S140T |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,089,502 (GRCm39) |
L366* |
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,976,036 (GRCm39) |
A1338T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,199 (GRCm39) |
I424V |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,109,490 (GRCm39) |
A891S |
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,219,865 (GRCm39) |
S26P |
possibly damaging |
Het |
| Elmod3 |
A |
G |
6: 72,571,721 (GRCm39) |
|
probably null |
Het |
| Eps15 |
G |
A |
4: 109,218,507 (GRCm39) |
E107K |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,593,744 (GRCm39) |
|
probably null |
Het |
| Fuz |
A |
G |
7: 44,549,742 (GRCm39) |
T407A |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,424,197 (GRCm39) |
F27I |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,754,344 (GRCm39) |
Y182C |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,597,828 (GRCm39) |
|
probably benign |
Het |
| Gm37610 |
A |
G |
6: 41,061,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6658 |
G |
T |
8: 91,635,020 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,789 (GRCm39) |
T74A |
possibly damaging |
Het |
| Hadha |
G |
A |
5: 30,349,284 (GRCm39) |
S109F |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,434,284 (GRCm39) |
E485K |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,725 (GRCm39) |
K650R |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,635,381 (GRCm39) |
V10D |
possibly damaging |
Het |
| Med27 |
A |
G |
2: 29,279,823 (GRCm39) |
|
probably null |
Het |
| Med29 |
A |
T |
7: 28,091,922 (GRCm39) |
V56E |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,996,919 (GRCm39) |
K17E |
probably damaging |
Het |
| Mrpl37 |
G |
A |
4: 106,923,919 (GRCm39) |
T25I |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,092,805 (GRCm39) |
D33G |
possibly damaging |
Het |
| Nrg3 |
T |
A |
14: 39,194,586 (GRCm39) |
I58F |
possibly damaging |
Het |
| Or52e2 |
A |
G |
7: 102,804,948 (GRCm39) |
I2T |
probably benign |
Het |
| Or7e176 |
A |
G |
9: 20,171,874 (GRCm39) |
D246G |
probably benign |
Het |
| Padi1 |
T |
A |
4: 140,553,892 (GRCm39) |
D359V |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pgm3 |
C |
A |
9: 86,452,414 (GRCm39) |
K15N |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,790,730 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
G |
A |
6: 25,778,950 (GRCm39) |
T48I |
possibly damaging |
Het |
| Ppic |
T |
C |
18: 53,542,333 (GRCm39) |
K125R |
probably benign |
Het |
| Ppm1j |
T |
C |
3: 104,692,811 (GRCm39) |
V440A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,300 (GRCm39) |
K458* |
probably null |
Het |
| Rd3 |
A |
T |
1: 191,717,261 (GRCm39) |
M244L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,912,864 (GRCm39) |
Y175H |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,237,900 (GRCm39) |
S574C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,110,653 (GRCm39) |
|
probably null |
Het |
| Senp3 |
C |
T |
11: 69,569,048 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
G |
A |
2: 130,914,767 (GRCm39) |
R1450C |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,924,193 (GRCm39) |
H446R |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,631,021 (GRCm39) |
I444T |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,428,782 (GRCm39) |
I441N |
possibly damaging |
Het |
| Sugt1 |
G |
A |
14: 79,846,451 (GRCm39) |
V163I |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,271 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,128 (GRCm39) |
E1348G |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,619,111 (GRCm39) |
V349D |
probably damaging |
Het |
| Ten1 |
A |
G |
11: 116,105,751 (GRCm39) |
R112G |
possibly damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,036,201 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,461,237 (GRCm39) |
M594K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,703,058 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,937,285 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r112 |
A |
G |
17: 22,838,004 (GRCm39) |
I822V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,382,682 (GRCm39) |
L88* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,160,701 (GRCm39) |
V758D |
probably damaging |
Het |
| Zfyve27 |
T |
G |
19: 42,160,110 (GRCm39) |
L42R |
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 |
|
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 |
|
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'- ACTACAGGATGCAGGATGCC -3'
(R):5'- GGAGACCTCTAGCAACTACTCAAG -3'
Sequencing Primer
(F):5'- TGCCTGACAAAAGACTGTGTC -3'
(R):5'- ATGTGAAGACCAGGTCCTCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation