Incidental Mutation 'R0402:Hectd2'
ID |
192629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hectd2
|
Ensembl Gene |
ENSMUSG00000041180 |
Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
Synonyms |
A630025O09Rik |
MMRRC Submission |
038607-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0402 (G1)
|
Quality Score |
39 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 36578929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047247]
[ENSMUST00000047247]
[ENSMUST00000139215]
[ENSMUST00000169036]
[ENSMUST00000177381]
|
AlphaFold |
Q8CDU6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047247
|
SMART Domains |
Protein: ENSMUSP00000042646 Gene: ENSMUSG00000041180
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 null
Transcript: ENSMUST00000047247
|
SMART Domains |
Protein: ENSMUSP00000042646 Gene: ENSMUSG00000041180
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: ENSMUST00000142404
|
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 null
Transcript: ENSMUST00000169036
|
SMART Domains |
Protein: ENSMUSP00000128387 Gene: ENSMUSG00000041180
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 |
0.9487 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.0%
- 10x: 94.5%
- 20x: 88.7%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,445,115 (GRCm39) |
K165N |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,453,615 (GRCm39) |
M144K |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,922,903 (GRCm39) |
|
probably benign |
Het |
Arl5c |
T |
A |
11: 97,885,939 (GRCm39) |
I21F |
probably damaging |
Het |
Bglap2 |
C |
T |
3: 88,285,552 (GRCm39) |
G40D |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,964,940 (GRCm39) |
E1303G |
probably damaging |
Het |
Calhm1 |
T |
C |
19: 47,129,896 (GRCm39) |
T209A |
probably damaging |
Het |
Ccr8 |
A |
G |
9: 119,923,976 (GRCm39) |
|
probably null |
Het |
Chkb |
C |
T |
15: 89,313,610 (GRCm39) |
R65Q |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,249,838 (GRCm39) |
|
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,292,014 (GRCm39) |
T98A |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 103,998,509 (GRCm39) |
T1080A |
probably damaging |
Het |
Dhx8 |
C |
A |
11: 101,643,223 (GRCm39) |
T765N |
probably damaging |
Het |
Dicer1 |
T |
C |
12: 104,697,323 (GRCm39) |
D78G |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,316,271 (GRCm39) |
I344V |
probably benign |
Het |
Edil3 |
A |
T |
13: 89,347,570 (GRCm39) |
|
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,313,493 (GRCm39) |
G235D |
probably benign |
Het |
Fzd1 |
T |
C |
5: 4,805,702 (GRCm39) |
K627E |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,323,901 (GRCm39) |
T209A |
probably benign |
Het |
Garin4 |
T |
C |
1: 190,896,637 (GRCm39) |
D2G |
probably benign |
Het |
Gm10638 |
A |
G |
8: 87,472,828 (GRCm39) |
|
probably benign |
Het |
H6pd |
G |
T |
4: 150,080,773 (GRCm39) |
A24E |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,440,333 (GRCm39) |
|
probably benign |
Het |
Irx3 |
T |
C |
8: 92,527,296 (GRCm39) |
N136S |
possibly damaging |
Het |
Kcmf1 |
T |
C |
6: 72,826,568 (GRCm39) |
M1V |
probably null |
Het |
Klrb1 |
A |
T |
6: 128,687,583 (GRCm39) |
F104I |
probably benign |
Het |
Lrfn5 |
T |
C |
12: 61,886,803 (GRCm39) |
M197T |
probably benign |
Het |
Mpdz |
A |
C |
4: 81,279,677 (GRCm39) |
M51R |
possibly damaging |
Het |
Mtbp |
G |
T |
15: 55,432,466 (GRCm39) |
E258* |
probably null |
Het |
Mylk3 |
T |
A |
8: 86,079,539 (GRCm39) |
H373L |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,664,882 (GRCm39) |
S383P |
probably damaging |
Het |
Nt5c |
T |
C |
11: 115,381,468 (GRCm39) |
*195W |
probably null |
Het |
Ocstamp |
A |
G |
2: 165,238,184 (GRCm39) |
V360A |
possibly damaging |
Het |
Or10ak16 |
A |
T |
4: 118,750,426 (GRCm39) |
I49F |
possibly damaging |
Het |
Or10al6 |
T |
A |
17: 38,083,284 (GRCm39) |
C247S |
probably damaging |
Het |
Or4k35 |
A |
G |
2: 111,100,208 (GRCm39) |
F168S |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,378 (GRCm39) |
V208D |
probably damaging |
Het |
Or5an9 |
A |
G |
19: 12,186,953 (GRCm39) |
T8A |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,217,234 (GRCm39) |
|
probably benign |
Het |
Pom121l2 |
A |
T |
13: 22,172,649 (GRCm39) |
|
probably benign |
Het |
Pon2 |
T |
A |
6: 5,272,410 (GRCm39) |
K137* |
probably null |
Het |
Ppip5k2 |
T |
A |
1: 97,647,579 (GRCm39) |
Q1049L |
probably benign |
Het |
Ralgapa2 |
C |
T |
2: 146,276,729 (GRCm39) |
V504M |
probably damaging |
Het |
Rph3a |
G |
A |
5: 121,080,317 (GRCm39) |
H654Y |
probably damaging |
Het |
Sh2d1b1 |
T |
C |
1: 170,107,342 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,595,960 (GRCm39) |
T154I |
probably benign |
Het |
Slc45a3 |
T |
C |
1: 131,905,265 (GRCm39) |
V96A |
possibly damaging |
Het |
Slc7a4 |
A |
G |
16: 17,393,497 (GRCm39) |
S101P |
probably damaging |
Het |
Smco2 |
T |
C |
6: 146,772,633 (GRCm39) |
|
probably benign |
Het |
Spata2 |
A |
T |
2: 167,325,580 (GRCm39) |
V413E |
probably benign |
Het |
Specc1l |
A |
G |
10: 75,082,260 (GRCm39) |
E552G |
probably damaging |
Het |
Sstr5 |
C |
T |
17: 25,711,008 (GRCm39) |
V74M |
probably benign |
Het |
Timm50 |
G |
A |
7: 28,006,280 (GRCm39) |
R274W |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,087,132 (GRCm39) |
V573A |
possibly damaging |
Het |
Tm7sf3 |
C |
A |
6: 146,507,685 (GRCm39) |
R459M |
possibly damaging |
Het |
Txk |
A |
G |
5: 72,889,105 (GRCm39) |
|
probably null |
Het |
Uroc1 |
A |
G |
6: 90,324,284 (GRCm39) |
D436G |
probably damaging |
Het |
Vmn1r13 |
T |
A |
6: 57,187,083 (GRCm39) |
Y81N |
possibly damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,313,141 (GRCm39) |
E737G |
probably damaging |
Het |
Wfs1 |
A |
G |
5: 37,134,324 (GRCm39) |
|
probably benign |
Het |
Zfp1 |
G |
A |
8: 112,396,875 (GRCm39) |
E285K |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,136 (GRCm39) |
C609S |
possibly damaging |
Het |
Zfp661 |
G |
A |
2: 127,419,640 (GRCm39) |
Q167* |
probably null |
Het |
Zswim8 |
T |
C |
14: 20,760,834 (GRCm39) |
F36S |
probably damaging |
Het |
Zw10 |
A |
G |
9: 48,980,023 (GRCm39) |
T385A |
probably benign |
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 |
|
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 |
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'- TGACCTATTTCTGGGCCATCAACAC -3'
(R):5'- TGGTTACACAATGAAGTCCCAACAAGC -3'
Sequencing Primer
(F):5'- ggtttgtagaaatgaacttatgcac -3'
(R):5'- TAATATACTGGGAGGCTAACTAGATG -3'
|
Posted On |
2014-05-16 |