Incidental Mutation 'R1731:Hectd3'
| ID |
199296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hectd3
|
| Ensembl Gene |
ENSMUSG00000046861 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 3 |
| Synonyms |
1700064K09Rik |
| MMRRC Submission |
039763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116852514-116862474 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 116853652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030446]
[ENSMUST00000050067]
[ENSMUST00000130273]
|
| AlphaFold |
Q3U487 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030446
|
| SMART Domains |
Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
14 |
360 |
2.4e-135 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000050067
|
| SMART Domains |
Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
APC10
|
237 |
391 |
6.75e-23 |
SMART |
|
HECTc
|
514 |
857 |
1.27e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130273
|
| SMART Domains |
Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
1 |
64 |
1.2e-18 |
PFAM |
|
Pfam:URO-D
|
60 |
120 |
4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139816
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,805 (GRCm39) |
Y140F |
probably damaging |
Het |
| Adgrl4 |
T |
G |
3: 151,246,623 (GRCm39) |
I641S |
possibly damaging |
Het |
| Aqp9 |
A |
G |
9: 71,030,250 (GRCm39) |
I205T |
possibly damaging |
Het |
| Arap3 |
C |
T |
18: 38,122,965 (GRCm39) |
V512I |
probably benign |
Het |
| Atf2 |
C |
T |
2: 73,675,853 (GRCm39) |
G123E |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,965,330 (GRCm39) |
D708G |
possibly damaging |
Het |
| Calcrl |
A |
G |
2: 84,175,512 (GRCm39) |
|
probably null |
Het |
| Capzb |
T |
A |
4: 139,007,341 (GRCm39) |
W110R |
probably damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,641,442 (GRCm39) |
N832I |
possibly damaging |
Het |
| Cecr2 |
T |
A |
6: 120,735,141 (GRCm39) |
H764Q |
possibly damaging |
Het |
| Cep131 |
T |
C |
11: 119,967,742 (GRCm39) |
|
probably null |
Het |
| Ces2e |
T |
C |
8: 105,656,208 (GRCm39) |
V173A |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,408,591 (GRCm39) |
D944G |
probably benign |
Het |
| Cyb5rl |
C |
A |
4: 106,938,110 (GRCm39) |
A189E |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,133 (GRCm39) |
S41P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,621,076 (GRCm39) |
L544P |
probably damaging |
Het |
| Epha2 |
A |
G |
4: 141,049,063 (GRCm39) |
K640E |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,241 (GRCm39) |
C8* |
probably null |
Het |
| Fat3 |
A |
G |
9: 15,907,233 (GRCm39) |
V2923A |
probably benign |
Het |
| Fat4 |
A |
T |
3: 38,945,459 (GRCm39) |
I1451F |
probably damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,455 (GRCm39) |
I163N |
probably damaging |
Het |
| Fzd6 |
G |
A |
15: 38,894,722 (GRCm39) |
G296D |
probably damaging |
Het |
| Gm3486 |
T |
A |
14: 41,206,492 (GRCm39) |
M194L |
probably benign |
Het |
| Gm5592 |
C |
T |
7: 40,937,837 (GRCm39) |
A373V |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,751,764 (GRCm39) |
V521E |
probably benign |
Het |
| Hsd17b6 |
A |
G |
10: 127,830,348 (GRCm39) |
L141S |
possibly damaging |
Het |
| Idua |
A |
G |
5: 108,829,538 (GRCm39) |
D467G |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,470,401 (GRCm39) |
P373L |
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,609 (GRCm39) |
E185G |
probably benign |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lpcat4 |
T |
C |
2: 112,074,188 (GRCm39) |
L250P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,528,914 (GRCm39) |
Y281H |
probably damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,088 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,782,386 (GRCm39) |
I372T |
possibly damaging |
Het |
| Myocd |
T |
A |
11: 65,091,714 (GRCm39) |
N76I |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,197,922 (GRCm39) |
Y1123N |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,652,972 (GRCm39) |
C1127S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,891 (GRCm39) |
K190E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,478 (GRCm39) |
H1918R |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,150,867 (GRCm39) |
Y272N |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,660 (GRCm39) |
V313A |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,451 (GRCm39) |
V116I |
possibly damaging |
Het |
| Plod2 |
G |
A |
9: 92,466,657 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
C |
7: 107,339,796 (GRCm39) |
Y730H |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,604,912 (GRCm39) |
E44G |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,438 (GRCm39) |
E787G |
probably damaging |
Het |
| Rabep2 |
T |
A |
7: 126,043,444 (GRCm39) |
L448Q |
probably damaging |
Het |
| Rbfox3 |
A |
G |
11: 118,387,762 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,110,873 (GRCm39) |
T44A |
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,426,046 (GRCm39) |
A1384S |
probably benign |
Het |
| Selp |
T |
A |
1: 163,969,009 (GRCm39) |
C536* |
probably null |
Het |
| Serpinb3c |
G |
A |
1: 107,199,504 (GRCm39) |
T339I |
probably damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,617 (GRCm39) |
R986C |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,659,180 (GRCm39) |
I208T |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,776,999 (GRCm39) |
H533Y |
probably damaging |
Het |
| Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,698 (GRCm39) |
R1615G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,333,460 (GRCm39) |
E802G |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,061,842 (GRCm39) |
V164A |
probably benign |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,802 (GRCm39) |
Y99H |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,703 (GRCm39) |
T195S |
possibly damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,466,972 (GRCm39) |
T21A |
probably benign |
Het |
| Zfp108 |
C |
A |
7: 23,957,964 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Zfp267 |
T |
A |
3: 36,218,620 (GRCm39) |
F214L |
probably benign |
Het |
| Zfp456 |
C |
T |
13: 67,514,674 (GRCm39) |
S344N |
probably benign |
Het |
| Zscan22 |
T |
C |
7: 12,640,907 (GRCm39) |
C384R |
probably damaging |
Het |
|
| Other mutations in Hectd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Hectd3
|
APN |
4 |
116,857,786 (GRCm39) |
splice site |
probably benign |
|
|
IGL00227:Hectd3
|
APN |
4 |
116,857,785 (GRCm39) |
splice site |
probably benign |
|
|
IGL00227:Hectd3
|
APN |
4 |
116,857,784 (GRCm39) |
splice site |
probably benign |
|
|
IGL00987:Hectd3
|
APN |
4 |
116,856,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01402:Hectd3
|
APN |
4 |
116,853,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01660:Hectd3
|
APN |
4 |
116,853,569 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02397:Hectd3
|
APN |
4 |
116,860,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03029:Hectd3
|
APN |
4 |
116,854,162 (GRCm39) |
nonsense |
probably null |
|
|
chopstix2
|
UTSW |
4 |
116,853,593 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0147:Hectd3
|
UTSW |
4 |
116,854,237 (GRCm39) |
unclassified |
probably benign |
|
|
R0240:Hectd3
|
UTSW |
4 |
116,859,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0240:Hectd3
|
UTSW |
4 |
116,859,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0611:Hectd3
|
UTSW |
4 |
116,853,241 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1367:Hectd3
|
UTSW |
4 |
116,854,367 (GRCm39) |
missense |
probably null |
0.48 |
|
R1401:Hectd3
|
UTSW |
4 |
116,859,466 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1444:Hectd3
|
UTSW |
4 |
116,853,593 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1466:Hectd3
|
UTSW |
4 |
116,853,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Hectd3
|
UTSW |
4 |
116,853,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1517:Hectd3
|
UTSW |
4 |
116,860,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1584:Hectd3
|
UTSW |
4 |
116,853,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1593:Hectd3
|
UTSW |
4 |
116,854,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1628:Hectd3
|
UTSW |
4 |
116,854,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Hectd3
|
UTSW |
4 |
116,856,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1918:Hectd3
|
UTSW |
4 |
116,857,540 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2029:Hectd3
|
UTSW |
4 |
116,857,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2174:Hectd3
|
UTSW |
4 |
116,856,898 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2184:Hectd3
|
UTSW |
4 |
116,858,100 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2226:Hectd3
|
UTSW |
4 |
116,852,886 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3721:Hectd3
|
UTSW |
4 |
116,856,942 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3895:Hectd3
|
UTSW |
4 |
116,853,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Hectd3
|
UTSW |
4 |
116,855,727 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4291:Hectd3
|
UTSW |
4 |
116,852,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Hectd3
|
UTSW |
4 |
116,854,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4837:Hectd3
|
UTSW |
4 |
116,859,794 (GRCm39) |
missense |
probably null |
0.32 |
|
R5059:Hectd3
|
UTSW |
4 |
116,854,361 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5090:Hectd3
|
UTSW |
4 |
116,857,435 (GRCm39) |
splice site |
probably benign |
|
|
R5910:Hectd3
|
UTSW |
4 |
116,859,331 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5932:Hectd3
|
UTSW |
4 |
116,859,470 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6182:Hectd3
|
UTSW |
4 |
116,857,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Hectd3
|
UTSW |
4 |
116,856,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Hectd3
|
UTSW |
4 |
116,857,821 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6478:Hectd3
|
UTSW |
4 |
116,856,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Hectd3
|
UTSW |
4 |
116,854,124 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7471:Hectd3
|
UTSW |
4 |
116,853,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8053:Hectd3
|
UTSW |
4 |
116,858,055 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8671:Hectd3
|
UTSW |
4 |
116,853,778 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8840:Hectd3
|
UTSW |
4 |
116,855,604 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9520:Hectd3
|
UTSW |
4 |
116,857,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9746:Hectd3
|
UTSW |
4 |
116,852,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hectd3
|
UTSW |
4 |
116,855,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCAAGGCTCCAGATCCTGAAG -3'
(R):5'- TGGACCTAGCATTGAGGGATGTGAC -3'
Sequencing Primer
(F):5'- CTCCAGATCCTGAAGGTGGTG -3'
(R):5'- ATGTGACTGTATCTAGGCACAGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation