Incidental Mutation 'R6672:Hectd2'
ID |
527184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hectd2
|
Ensembl Gene |
ENSMUSG00000041180 |
Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
Synonyms |
A630025O09Rik |
MMRRC Submission |
044792-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6672 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36564780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 20
(Q20H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047247]
[ENSMUST00000139215]
[ENSMUST00000169036]
[ENSMUST00000177381]
|
AlphaFold |
Q8CDU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047247
AA Change: Q203H
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042646 Gene: ENSMUSG00000041180 AA Change: Q203H
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: ENSMUST00000141503
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149629
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155594
AA Change: Q175H
|
SMART Domains |
Protein: ENSMUSP00000120791 Gene: ENSMUSG00000041180 AA Change: Q175H
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 benign
Transcript: ENSMUST00000169036
AA Change: Q203H
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128387 Gene: ENSMUSG00000041180 AA Change: Q203H
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 damaging
Transcript: ENSMUST00000177381
AA Change: Q20H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134964 Gene: ENSMUSG00000041180 AA Change: Q20H
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: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably 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 |
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 |
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'- GTCTCAGGAGTGAATTGGATACTG -3'
(R):5'- CCTCATAGAATCAGGCAAGGG -3'
Sequencing Primer
(F):5'- AATTGGATACTGCTCTTAGTGTCGC -3'
(R):5'- CCGGGAAAGGGGATCACATTTG -3'
|
Posted On |
2018-07-23 |