Incidental Mutation 'R6414:Hectd2'
ID |
514893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hectd2
|
Ensembl Gene |
ENSMUSG00000041180 |
Gene Name |
HECT domain E3 ubiquitin protein ligase 2 |
Synonyms |
A630025O09Rik |
MMRRC Submission |
044556-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6414 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
36532039-36598535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36596186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 757
(D757G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047247]
[ENSMUST00000139215]
[ENSMUST00000169036]
[ENSMUST00000177381]
|
AlphaFold |
Q8CDU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047247
AA Change: D756G
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000042646 Gene: ENSMUSG00000041180 AA Change: D756G
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 benign
Transcript: ENSMUST00000169036
AA Change: D757G
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128387 Gene: ENSMUSG00000041180 AA Change: D757G
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 |
0.0845 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
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 |
|
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 |
|
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'- CTAGAATGGCACTTGATCCTAAGTTC -3'
(R):5'- CCTCATTGTTTTAAAAGTGGTGAGC -3'
Sequencing Primer
(F):5'- AGAGTCATCATAGAACAGGAAAGTAG -3'
(R):5'- GAGCTTTGAGAAAGTGTTTTGAAAC -3'
|
Posted On |
2018-05-04 |