Incidental Mutation 'R6741:Hectd2'
| ID |
530469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hectd2
|
| Ensembl Gene |
ENSMUSG00000041180 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
| Synonyms |
A630025O09Rik |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36589759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 628
(I628T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047247]
[ENSMUST00000139215]
[ENSMUST00000169036]
[ENSMUST00000177381]
|
| AlphaFold |
Q8CDU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047247
AA Change: I627T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: I627T
| 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 |
noncoding transcript
Transcript: ENSMUST00000142404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149601
|
| 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 |
probably damaging
Transcript: ENSMUST00000169036
AA Change: I628T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: I628T
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
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 |
|
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 |
|
R8184:Hectd2
|
UTSW |
19 |
36,581,754 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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'- AACATATGGTATCGCCCACC -3'
(R):5'- ATGCTGTGCTCCTAAGTCGC -3'
Sequencing Primer
(F):5'- GCCCACCAGGTTTTTCAAGAAG -3'
(R):5'- GTGAGGTTCCCATCATGCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation