Incidental Mutation 'IGL02397:Hectd3'
| ID |
291717 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hectd3
|
| Ensembl Gene |
ENSMUSG00000046861 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 3 |
| Synonyms |
1700064K09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116995317-117005277 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117003136 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 816
(A816D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050067]
|
| AlphaFold |
Q3U487 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050067
AA Change: A816D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: A816D
| 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: ENSMUST00000133234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155267
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,875 (GRCm38) |
N400S |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,909,819 (GRCm38) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 24,744,133 (GRCm38) |
|
probably benign |
Het |
| Amn |
A |
T |
12: 111,274,479 (GRCm38) |
Y139F |
possibly damaging |
Het |
| Ano10 |
C |
A |
9: 122,261,392 (GRCm38) |
R285L |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 4,974,046 (GRCm38) |
Y57C |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,604,873 (GRCm38) |
K786R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,320,164 (GRCm38) |
|
probably benign |
Het |
| Card9 |
C |
T |
2: 26,352,329 (GRCm38) |
D532N |
probably damaging |
Het |
| Cd22 |
T |
C |
7: 30,877,625 (GRCm38) |
T86A |
probably benign |
Het |
| Cebpz |
A |
T |
17: 78,923,261 (GRCm38) |
D842E |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,108,465 (GRCm38) |
N713S |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,790,674 (GRCm38) |
T1899A |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,685,789 (GRCm38) |
T381A |
probably damaging |
Het |
| Frmd7 |
G |
A |
X: 50,895,898 (GRCm38) |
T465I |
possibly damaging |
Het |
| Gm9837 |
A |
T |
11: 53,470,160 (GRCm38) |
|
probably benign |
Het |
| Itpripl2 |
A |
G |
7: 118,490,296 (GRCm38) |
W347R |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,595,794 (GRCm38) |
T503A |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,288,980 (GRCm38) |
E142G |
possibly damaging |
Het |
| Nabp2 |
T |
A |
10: 128,408,323 (GRCm38) |
N138I |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,076,899 (GRCm38) |
V2902A |
possibly damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,978,638 (GRCm38) |
D91G |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,233,576 (GRCm38) |
Y134F |
possibly damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,401,649 (GRCm38) |
F58S |
probably damaging |
Het |
| Slitrk4 |
T |
C |
X: 64,272,684 (GRCm38) |
T126A |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,461,638 (GRCm38) |
P1547T |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,394,998 (GRCm38) |
S45G |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,236,694 (GRCm38) |
T1937A |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 30,872,746 (GRCm38) |
A296T |
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,439,531 (GRCm38) |
I156N |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,748,272 (GRCm38) |
R163Q |
probably benign |
Het |
| Ythdf2 |
C |
T |
4: 132,211,446 (GRCm38) |
G13D |
probably damaging |
Het |
| Zbtb7c |
A |
T |
18: 76,136,976 (GRCm38) |
Y45F |
possibly damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,407,985 (GRCm38) |
M740I |
probably damaging |
Het |
|
| Other mutations in Hectd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Hectd3
|
APN |
4 |
117,000,589 (GRCm38) |
splice site |
probably benign |
|
|
IGL00227:Hectd3
|
APN |
4 |
117,000,588 (GRCm38) |
splice site |
probably benign |
|
|
IGL00227:Hectd3
|
APN |
4 |
117,000,587 (GRCm38) |
splice site |
probably benign |
|
|
IGL00987:Hectd3
|
APN |
4 |
116,999,643 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01402:Hectd3
|
APN |
4 |
116,996,065 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01660:Hectd3
|
APN |
4 |
116,996,372 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL03029:Hectd3
|
APN |
4 |
116,996,965 (GRCm38) |
nonsense |
probably null |
|
|
chopstix2
|
UTSW |
4 |
116,996,396 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0147:Hectd3
|
UTSW |
4 |
116,997,040 (GRCm38) |
unclassified |
probably benign |
|
|
R0240:Hectd3
|
UTSW |
4 |
117,002,613 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0240:Hectd3
|
UTSW |
4 |
117,002,613 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0611:Hectd3
|
UTSW |
4 |
116,996,044 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1367:Hectd3
|
UTSW |
4 |
116,997,170 (GRCm38) |
missense |
probably null |
0.48 |
|
R1401:Hectd3
|
UTSW |
4 |
117,002,269 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1444:Hectd3
|
UTSW |
4 |
116,996,396 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1466:Hectd3
|
UTSW |
4 |
116,996,566 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1466:Hectd3
|
UTSW |
4 |
116,996,566 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1517:Hectd3
|
UTSW |
4 |
117,002,994 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1584:Hectd3
|
UTSW |
4 |
116,996,566 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1593:Hectd3
|
UTSW |
4 |
116,997,020 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1628:Hectd3
|
UTSW |
4 |
116,997,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1669:Hectd3
|
UTSW |
4 |
116,999,643 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1731:Hectd3
|
UTSW |
4 |
116,996,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1918:Hectd3
|
UTSW |
4 |
117,000,343 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2029:Hectd3
|
UTSW |
4 |
117,000,685 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2174:Hectd3
|
UTSW |
4 |
116,999,701 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2184:Hectd3
|
UTSW |
4 |
117,000,903 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2226:Hectd3
|
UTSW |
4 |
116,995,689 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R3721:Hectd3
|
UTSW |
4 |
116,999,745 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3895:Hectd3
|
UTSW |
4 |
116,996,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3937:Hectd3
|
UTSW |
4 |
116,998,530 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4291:Hectd3
|
UTSW |
4 |
116,995,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4729:Hectd3
|
UTSW |
4 |
116,997,218 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4837:Hectd3
|
UTSW |
4 |
117,002,597 (GRCm38) |
missense |
probably null |
0.32 |
|
R5059:Hectd3
|
UTSW |
4 |
116,997,164 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5090:Hectd3
|
UTSW |
4 |
117,000,238 (GRCm38) |
splice site |
probably benign |
|
|
R5910:Hectd3
|
UTSW |
4 |
117,002,134 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5932:Hectd3
|
UTSW |
4 |
117,002,273 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6182:Hectd3
|
UTSW |
4 |
117,000,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6292:Hectd3
|
UTSW |
4 |
116,998,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6405:Hectd3
|
UTSW |
4 |
117,000,624 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6478:Hectd3
|
UTSW |
4 |
116,999,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7444:Hectd3
|
UTSW |
4 |
116,996,927 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7471:Hectd3
|
UTSW |
4 |
116,996,588 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8053:Hectd3
|
UTSW |
4 |
117,000,858 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8671:Hectd3
|
UTSW |
4 |
116,996,581 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8840:Hectd3
|
UTSW |
4 |
116,998,407 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9520:Hectd3
|
UTSW |
4 |
117,000,685 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9746:Hectd3
|
UTSW |
4 |
116,995,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Hectd3
|
UTSW |
4 |
116,998,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation