Incidental Mutation 'R8184:Hectd2'
| ID |
634798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hectd2
|
| Ensembl Gene |
ENSMUSG00000041180 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
| Synonyms |
A630025O09Rik |
| MMRRC Submission |
067607-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36581754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 431
(D431E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047247]
[ENSMUST00000139215]
[ENSMUST00000169036]
[ENSMUST00000177381]
|
| AlphaFold |
Q8CDU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047247
AA Change: D430E
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: D430E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
HECTc
|
433 |
774 |
1.33e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139215
|
| SMART Domains |
Protein: ENSMUSP00000117273
Gene: ENSMUSG00000041180
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155594
|
| SMART Domains |
Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169036
AA Change: D431E
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: D431E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
HECTc
|
434 |
775 |
1.33e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177381
|
| SMART Domains |
Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
144 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,686,086 (GRCm39) |
K577R |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,499 (GRCm39) |
S368P |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,614,013 (GRCm39) |
E391G |
possibly damaging |
Het |
| Casr |
T |
A |
16: 36,330,108 (GRCm39) |
M409L |
probably benign |
Het |
| Ccdc83 |
G |
T |
7: 89,873,286 (GRCm39) |
Y356* |
probably null |
Het |
| Clec10a |
A |
T |
11: 70,060,642 (GRCm39) |
N166Y |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,866,996 (GRCm39) |
F77S |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,666,194 (GRCm39) |
K611T |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,530,469 (GRCm39) |
H1025Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,741,596 (GRCm39) |
S876T |
possibly damaging |
Het |
| Dop1b |
G |
T |
16: 93,573,881 (GRCm39) |
R1701L |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,817 (GRCm39) |
F278S |
probably damaging |
Het |
| Fbxo43 |
C |
T |
15: 36,162,485 (GRCm39) |
V241I |
possibly damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,550 (GRCm39) |
I280N |
probably damaging |
Het |
| Gnai1 |
A |
G |
5: 18,496,504 (GRCm39) |
F140L |
|
Het |
| Gne |
T |
C |
4: 44,084,061 (GRCm39) |
Y13C |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,121,662 (GRCm39) |
S688T |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 54,079,546 (GRCm39) |
S36P |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,352 (GRCm39) |
I353N |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,204,534 (GRCm39) |
V974E |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,000,110 (GRCm39) |
L136Q |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,845,441 (GRCm39) |
V381A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,838,187 (GRCm39) |
T523A |
unknown |
Het |
| Lrrc8e |
T |
G |
8: 4,285,140 (GRCm39) |
L455R |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,125 (GRCm39) |
S7P |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,722 (GRCm39) |
S155P |
unknown |
Het |
| Neurl3 |
A |
G |
1: 36,308,662 (GRCm39) |
F50S |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,363 (GRCm39) |
T455A |
probably damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,260 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,101,791 (GRCm39) |
L992* |
probably null |
Het |
| Pla2g6 |
A |
G |
15: 79,171,322 (GRCm39) |
I756T |
probably benign |
Het |
| Polm |
T |
A |
11: 5,781,707 (GRCm39) |
D263V |
possibly damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,700 (GRCm39) |
T225A |
probably benign |
Het |
| Rtca |
C |
A |
3: 116,301,473 (GRCm39) |
A25S |
probably benign |
Het |
| Sirt2 |
G |
A |
7: 28,487,191 (GRCm39) |
V318M |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,197 (GRCm39) |
I78K |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,009,577 (GRCm39) |
I246T |
probably benign |
Het |
| Smpd5 |
A |
G |
15: 76,179,926 (GRCm39) |
E325G |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,500,673 (GRCm39) |
E362G |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,108,328 (GRCm39) |
M114L |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,848,242 (GRCm39) |
L66P |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,896,060 (GRCm39) |
F966L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,609,643 (GRCm39) |
I17588V |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,227 (GRCm39) |
C606* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,454 (GRCm39) |
V728E |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,019 (GRCm39) |
D299G |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Hectd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Hectd2
|
APN |
19 |
36,562,336 (GRCm39) |
missense |
probably benign |
|
|
IGL01024:Hectd2
|
APN |
19 |
36,583,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Hectd2
|
APN |
19 |
36,574,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Hectd2
|
APN |
19 |
36,546,770 (GRCm39) |
splice site |
probably benign |
|
|
IGL02019:Hectd2
|
APN |
19 |
36,592,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02410:Hectd2
|
APN |
19 |
36,572,613 (GRCm39) |
nonsense |
probably null |
|
|
IGL02793:Hectd2
|
APN |
19 |
36,564,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03010:Hectd2
|
APN |
19 |
36,593,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03115:Hectd2
|
APN |
19 |
36,577,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03251:Hectd2
|
APN |
19 |
36,562,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chopstix1
|
UTSW |
19 |
36,586,816 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Chopstix3
|
UTSW |
19 |
36,592,908 (GRCm39) |
nonsense |
probably null |
|
|
R0402:Hectd2
|
UTSW |
19 |
36,578,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0415:Hectd2
|
UTSW |
19 |
36,562,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0576:Hectd2
|
UTSW |
19 |
36,562,897 (GRCm39) |
missense |
probably benign |
|
|
R0685:Hectd2
|
UTSW |
19 |
36,546,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1460:Hectd2
|
UTSW |
19 |
36,592,908 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Hectd2
|
UTSW |
19 |
36,586,816 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1895:Hectd2
|
UTSW |
19 |
36,591,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Hectd2
|
UTSW |
19 |
36,589,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Hectd2
|
UTSW |
19 |
36,591,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2520:Hectd2
|
UTSW |
19 |
36,589,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4693:Hectd2
|
UTSW |
19 |
36,591,738 (GRCm39) |
splice site |
probably benign |
|
|
R4858:Hectd2
|
UTSW |
19 |
36,582,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4943:Hectd2
|
UTSW |
19 |
36,581,647 (GRCm39) |
splice site |
probably null |
|
|
R5031:Hectd2
|
UTSW |
19 |
36,577,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Hectd2
|
UTSW |
19 |
36,532,296 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5621:Hectd2
|
UTSW |
19 |
36,596,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Hectd2
|
UTSW |
19 |
36,581,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Hectd2
|
UTSW |
19 |
36,576,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5950:Hectd2
|
UTSW |
19 |
36,574,639 (GRCm39) |
intron |
probably benign |
|
|
R6414:Hectd2
|
UTSW |
19 |
36,596,186 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6438:Hectd2
|
UTSW |
19 |
36,596,242 (GRCm39) |
makesense |
probably null |
|
|
R6544:Hectd2
|
UTSW |
19 |
36,589,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Hectd2
|
UTSW |
19 |
36,564,778 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6629:Hectd2
|
UTSW |
19 |
36,592,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6672:Hectd2
|
UTSW |
19 |
36,564,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Hectd2
|
UTSW |
19 |
36,589,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Hectd2
|
UTSW |
19 |
36,577,055 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7238:Hectd2
|
UTSW |
19 |
36,574,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7555:Hectd2
|
UTSW |
19 |
36,589,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Hectd2
|
UTSW |
19 |
36,562,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Hectd2
|
UTSW |
19 |
36,576,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9418:Hectd2
|
UTSW |
19 |
36,589,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9514:Hectd2
|
UTSW |
19 |
36,582,689 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACCTACTGGCTACTAGGGTTC -3'
(R):5'- TCCTCTGAGGAATTAACCAACTAC -3'
Sequencing Primer
(F):5'- CTGGCTACTAGGGTTCCAAAATAAAG -3'
(R):5'- GCAAGTATACATATTTGCACATAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation