Incidental Mutation 'R7349:Herc3'
| ID |
570416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc3
|
| Ensembl Gene |
ENSMUSG00000029804 |
| Gene Name |
hect domain and RLD 3 |
| Synonyms |
5730409F18Rik |
| MMRRC Submission |
045435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7349 (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 C
at 58835971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 271
(C271R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031823]
[ENSMUST00000041401]
[ENSMUST00000126292]
|
| AlphaFold |
A6H6S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031823
AA Change: C271R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: C271R
| 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
AA Change: C271R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: C271R
| 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 |
|
| Meta Mutation Damage Score |
0.1771 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 60,990,717 (GRCm39) |
T326S |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,817 (GRCm39) |
H91Q |
probably benign |
Het |
| Acp3 |
T |
A |
9: 104,168,657 (GRCm39) |
I403F |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,742,090 (GRCm39) |
M489L |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,039,435 (GRCm39) |
I565T |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,473 (GRCm39) |
D563G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,789,392 (GRCm39) |
Y386* |
probably null |
Het |
| Atp8b4 |
A |
G |
2: 126,167,265 (GRCm39) |
V1078A |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,987,982 (GRCm39) |
D2590G |
unknown |
Het |
| Casp12 |
T |
C |
9: 5,345,527 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,868 (GRCm39) |
S787P |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,969,097 (GRCm39) |
T485A |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,184,674 (GRCm39) |
V23A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,121,426 (GRCm39) |
H810R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,854 (GRCm39) |
Y120F |
unknown |
Het |
| Dmgdh |
C |
T |
13: 93,888,741 (GRCm39) |
T793I |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Eif4e1b |
T |
C |
13: 54,932,006 (GRCm39) |
V30A |
probably benign |
Het |
| Ercc5 |
T |
G |
1: 44,220,068 (GRCm39) |
D1113E |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,157,321 (GRCm39) |
N2321D |
possibly damaging |
Het |
| Fbrs |
T |
C |
7: 127,081,971 (GRCm39) |
L237P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ftsj3 |
G |
A |
11: 106,140,572 (GRCm39) |
T761I |
probably damaging |
Het |
| Gdi2 |
C |
A |
13: 3,606,395 (GRCm39) |
T157N |
probably benign |
Het |
| Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
| Gtpbp10 |
T |
C |
5: 5,605,379 (GRCm39) |
E108G |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,448,726 (GRCm39) |
L358P |
probably damaging |
Het |
| Hspb1 |
C |
T |
5: 135,918,187 (GRCm39) |
T178M |
possibly damaging |
Het |
| Htr3b |
C |
T |
9: 48,847,319 (GRCm39) |
V399M |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,803 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,326,786 (GRCm39) |
|
probably null |
Het |
| Iyd |
G |
T |
10: 3,495,638 (GRCm39) |
V99F |
possibly damaging |
Het |
| Lrrc36 |
G |
A |
8: 106,178,900 (GRCm39) |
G365D |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,570,148 (GRCm39) |
I858F |
unknown |
Het |
| Med12l |
A |
T |
3: 59,165,746 (GRCm39) |
D1488V |
probably damaging |
Het |
| Ms4a6c |
T |
A |
19: 11,455,555 (GRCm39) |
N121K |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,072,943 (GRCm39) |
Q300P |
probably benign |
Het |
| Nlrp3 |
G |
A |
11: 59,438,912 (GRCm39) |
R163H |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Optc |
T |
G |
1: 133,825,617 (GRCm39) |
D356A |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,857 (GRCm39) |
H143R |
probably benign |
Het |
| Or9s15 |
T |
C |
1: 92,524,904 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pdzd2 |
C |
G |
15: 12,399,291 (GRCm39) |
V812L |
probably damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,655,278 (GRCm39) |
F691S |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,453,238 (GRCm39) |
F319L |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,378,350 (GRCm39) |
T1035A |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,611,339 (GRCm39) |
T261A |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,278,160 (GRCm39) |
F312S |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,654 (GRCm39) |
I587N |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,593 (GRCm39) |
H272L |
probably damaging |
Het |
| Prkce |
G |
A |
17: 86,800,783 (GRCm39) |
A400T |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,951,660 (GRCm39) |
S324P |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,468,834 (GRCm39) |
N1432I |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,328,515 (GRCm39) |
S746P |
probably benign |
Het |
| Rnf220 |
G |
A |
4: 117,135,015 (GRCm39) |
A412V |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,781,315 (GRCm39) |
A154T |
probably benign |
Het |
| Sirpb1a |
A |
T |
3: 15,475,664 (GRCm39) |
N290K |
probably damaging |
Het |
| Sirpb1c |
A |
T |
3: 15,886,310 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 46,248,860 (GRCm39) |
R704* |
probably null |
Het |
| Spast |
T |
C |
17: 74,680,319 (GRCm39) |
V427A |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,482,937 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,352,067 (GRCm39) |
G1043C |
|
Het |
| Tmem205 |
C |
T |
9: 21,832,410 (GRCm39) |
C167Y |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,608,718 (GRCm39) |
L897* |
probably null |
Het |
| Trim36 |
A |
G |
18: 46,302,495 (GRCm39) |
F518L |
probably benign |
Het |
| Ttc12 |
T |
G |
9: 49,359,267 (GRCm39) |
T402P |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,600 (GRCm39) |
V506A |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,682 (GRCm39) |
L604* |
probably null |
Het |
| Wdr83 |
T |
C |
8: 85,806,460 (GRCm39) |
N113D |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
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 |
|
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'- GACCCATTCCCTAAAGCTGTAG -3'
(R):5'- AATGGCAGTGGCTCAGTGAG -3'
Sequencing Primer
(F):5'- CTTTCCCACTTAAGGAATGTTCTTAG -3'
(R):5'- TGCCACAAGCAATCTGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation