Incidental Mutation 'R5621:Hectd2'
| ID |
441592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hectd2
|
| Ensembl Gene |
ENSMUSG00000041180 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
| Synonyms |
A630025O09Rik |
| MMRRC Submission |
043279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5621 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36596151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 745
(N745K)
|
| 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: N744K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: N744K
| 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 |
noncoding transcript
Transcript: ENSMUST00000129953
|
| 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: ENSMUST00000142067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147754
|
| 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: N745K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: N745K
| 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 |
|
| Meta Mutation Damage Score |
0.8715 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
G |
17: 85,003,421 (GRCm39) |
L417R |
probably damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,664 (GRCm39) |
A346V |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,231,049 (GRCm39) |
V854A |
probably benign |
Het |
| Bbox1 |
C |
T |
2: 110,122,868 (GRCm39) |
W140* |
probably null |
Het |
| Ccdc28a |
A |
T |
10: 18,092,016 (GRCm39) |
N110K |
probably benign |
Het |
| Chrna6 |
C |
T |
8: 27,897,068 (GRCm39) |
E270K |
probably damaging |
Het |
| Cilp |
A |
G |
9: 65,186,073 (GRCm39) |
K723E |
possibly damaging |
Het |
| Ciz1 |
C |
A |
2: 32,261,753 (GRCm39) |
A455E |
probably damaging |
Het |
| Csmd3 |
T |
G |
15: 48,177,374 (GRCm39) |
H388P |
possibly damaging |
Het |
| Dnajc8 |
A |
G |
4: 132,280,563 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
T |
16: 3,856,982 (GRCm39) |
C164F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,120,909 (GRCm39) |
I2126K |
possibly damaging |
Het |
| Epha4 |
G |
T |
1: 77,491,686 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,430,175 (GRCm39) |
C201R |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,730,821 (GRCm39) |
Y68C |
probably benign |
Het |
| Gabrb1 |
A |
T |
5: 72,266,071 (GRCm39) |
I243F |
probably damaging |
Het |
| Gpam |
A |
C |
19: 55,067,692 (GRCm39) |
S484A |
probably damaging |
Het |
| Hspa13 |
T |
C |
16: 75,563,651 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
G |
11: 86,133,773 (GRCm39) |
F426L |
probably benign |
Het |
| Ism1 |
A |
G |
2: 139,520,641 (GRCm39) |
T18A |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,107,616 (GRCm39) |
Q650L |
probably benign |
Het |
| Jmjd4 |
T |
C |
11: 59,341,219 (GRCm39) |
F50S |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,226,883 (GRCm39) |
N125S |
probably benign |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Lrfn1 |
A |
G |
7: 28,166,261 (GRCm39) |
I552V |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,682,186 (GRCm39) |
E441G |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,716,371 (GRCm39) |
H2144Q |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,752 (GRCm39) |
S56P |
probably benign |
Het |
| Mrgprb3 |
A |
G |
7: 48,293,116 (GRCm39) |
I145T |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,062,719 (GRCm39) |
T287I |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,398,794 (GRCm39) |
T730A |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,810 (GRCm39) |
I142V |
probably benign |
Het |
| Or4c15b |
G |
A |
2: 89,112,697 (GRCm39) |
P281L |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,815,222 (GRCm39) |
E571G |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,669,195 (GRCm39) |
V731E |
possibly damaging |
Het |
| Pgm2 |
T |
A |
5: 64,269,381 (GRCm39) |
Y489* |
probably null |
Het |
| Rrp12 |
T |
C |
19: 41,868,856 (GRCm39) |
T541A |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,731,329 (GRCm39) |
W660* |
probably null |
Het |
| Sertad2 |
T |
A |
11: 20,598,061 (GRCm39) |
F86I |
possibly damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,122,547 (GRCm39) |
F143L |
probably benign |
Het |
| Slc22a28 |
C |
T |
19: 8,048,376 (GRCm39) |
V424I |
probably benign |
Het |
| Slc7a11 |
T |
G |
3: 50,393,324 (GRCm39) |
K106N |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
| Sphk1 |
C |
T |
11: 116,427,192 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
A |
T |
8: 63,597,040 (GRCm39) |
T118S |
probably benign |
Het |
| Stk17b |
G |
T |
1: 53,810,943 (GRCm39) |
S54* |
probably null |
Het |
| Sycp2 |
A |
G |
2: 178,023,711 (GRCm39) |
I435T |
probably benign |
Het |
| Tm2d3 |
G |
T |
7: 65,351,366 (GRCm39) |
D207Y |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,387,280 (GRCm38) |
N123Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,677,202 (GRCm39) |
T2044A |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,445,243 (GRCm39) |
S407G |
probably benign |
Het |
| Vmn1r195 |
G |
A |
13: 22,462,559 (GRCm39) |
V10I |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,811,703 (GRCm39) |
R447H |
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 |
|
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 |
|
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'- TCCTGCTGTTATCTAGAATGGCAC -3'
(R):5'- CCTCATTGTTTTAAAAGTGGTGAGC -3'
Sequencing Primer
(F):5'- GAATGGCACTTGATCCTAAGTTCTC -3'
(R):5'- GAGCTTTGAGAAAGTGTTTTGAAAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation