Incidental Mutation 'R1856:Hectd1'
| ID |
206156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hectd1
|
| Ensembl Gene |
ENSMUSG00000035247 |
| Gene Name |
HECT domain E3 ubiquitin protein ligase 1 |
| Synonyms |
A630086P08Rik, b2b327Clo, opm |
| MMRRC Submission |
039880-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51790505-51876319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51791577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 2556
(L2556Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042052]
[ENSMUST00000179265]
[ENSMUST00000218820]
|
| AlphaFold |
Q69ZR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042052
AA Change: L2556Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: L2556Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
ANK
|
395 |
424 |
1.44e-1 |
SMART |
|
ANK
|
426 |
455 |
2.81e-4 |
SMART |
|
ANK
|
459 |
488 |
1.55e2 |
SMART |
|
low complexity region
|
490 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
1107 |
1240 |
9.2e-27 |
PFAM |
|
low complexity region
|
1259 |
1271 |
N/A |
INTRINSIC |
|
Pfam:MIB_HERC2
|
1277 |
1338 |
7.6e-27 |
PFAM |
|
low complexity region
|
1373 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1441 |
1458 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1508 |
1524 |
N/A |
INTRINSIC |
|
low complexity region
|
1600 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1633 |
1651 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1703 |
N/A |
INTRINSIC |
|
low complexity region
|
1745 |
1752 |
N/A |
INTRINSIC |
|
PDB:2LC3|A
|
1879 |
1966 |
4e-57 |
PDB |
|
low complexity region
|
2101 |
2117 |
N/A |
INTRINSIC |
|
HECTc
|
2143 |
2610 |
8.32e-76 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158721
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179265
AA Change: L2564Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: L2564Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
ANK
|
396 |
425 |
1.44e-1 |
SMART |
|
ANK
|
427 |
456 |
2.81e-4 |
SMART |
|
ANK
|
460 |
489 |
1.55e2 |
SMART |
|
low complexity region
|
491 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
833 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
1112 |
1245 |
1.3e-26 |
PFAM |
|
low complexity region
|
1264 |
1276 |
N/A |
INTRINSIC |
|
Pfam:MIB_HERC2
|
1282 |
1341 |
5.3e-26 |
PFAM |
|
low complexity region
|
1378 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1446 |
1463 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1500 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1529 |
N/A |
INTRINSIC |
|
low complexity region
|
1605 |
1635 |
N/A |
INTRINSIC |
|
low complexity region
|
1638 |
1656 |
N/A |
INTRINSIC |
|
low complexity region
|
1679 |
1708 |
N/A |
INTRINSIC |
|
low complexity region
|
1750 |
1757 |
N/A |
INTRINSIC |
|
PDB:2LC3|A
|
1884 |
1971 |
3e-57 |
PDB |
|
low complexity region
|
2106 |
2122 |
N/A |
INTRINSIC |
|
HECTc
|
2148 |
2618 |
4.5e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218820
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(30) : Gene trapped(29) Chemically induced(1) |
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,453 (GRCm39) |
M233L |
probably benign |
Het |
| Abca14 |
T |
G |
7: 119,877,404 (GRCm39) |
F1017L |
probably damaging |
Het |
| Abcb11 |
A |
C |
2: 69,076,267 (GRCm39) |
V1147G |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,617,529 (GRCm39) |
S1128C |
probably damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,923 (GRCm39) |
C432Y |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,808,397 (GRCm39) |
V318M |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,979,412 (GRCm39) |
S232Y |
possibly damaging |
Het |
| Amt |
A |
C |
9: 108,174,361 (GRCm39) |
H42P |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,501,708 (GRCm39) |
L778Q |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,777,580 (GRCm39) |
A1588T |
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,627 (GRCm39) |
L881Q |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,649,706 (GRCm39) |
S607P |
probably damaging |
Het |
| Arg2 |
G |
T |
12: 79,194,436 (GRCm39) |
V87L |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,731,323 (GRCm39) |
P869L |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,769 (GRCm39) |
D310E |
probably damaging |
Het |
| Cd6 |
A |
T |
19: 10,775,966 (GRCm39) |
D164E |
probably damaging |
Het |
| Cdan1 |
C |
A |
2: 120,555,417 (GRCm39) |
V775L |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,687,056 (GRCm39) |
|
probably null |
Het |
| Cep41 |
A |
G |
6: 30,661,005 (GRCm39) |
S61P |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,379,445 (GRCm39) |
D764E |
probably damaging |
Het |
| Cog2 |
G |
A |
8: 125,278,142 (GRCm39) |
G703S |
possibly damaging |
Het |
| Cramp1 |
T |
C |
17: 25,187,952 (GRCm39) |
D1214G |
probably damaging |
Het |
| Cst7 |
G |
T |
2: 150,419,628 (GRCm39) |
C98F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,925,484 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,904,262 (GRCm39) |
A11T |
possibly damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,003,120 (GRCm39) |
D306G |
probably damaging |
Het |
| Defb38 |
T |
A |
8: 19,073,592 (GRCm39) |
K27I |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,089 (GRCm39) |
E257G |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,185 (GRCm39) |
S58P |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,285 (GRCm39) |
D140E |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,374,057 (GRCm39) |
V172A |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,137,011 (GRCm39) |
A171T |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,986 (GRCm39) |
D284G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,776,843 (GRCm39) |
D1377G |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,183 (GRCm39) |
E2687G |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,352 (GRCm39) |
L154R |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,540 (GRCm39) |
N454S |
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,192,153 (GRCm39) |
I123L |
probably benign |
Het |
| Gucy1b1 |
A |
T |
3: 81,965,659 (GRCm39) |
N62K |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,067 (GRCm39) |
N90S |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 106,995,542 (GRCm39) |
M1290L |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,447,284 (GRCm39) |
W337R |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,097 (GRCm39) |
Y291C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,597,415 (GRCm39) |
N1749S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,238,693 (GRCm39) |
D496G |
possibly damaging |
Het |
| Iqch |
C |
T |
9: 63,441,619 (GRCm39) |
|
probably null |
Het |
| Irf6 |
A |
G |
1: 192,849,843 (GRCm39) |
D255G |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,346,787 (GRCm39) |
G642R |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,934,312 (GRCm39) |
Y236H |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,409,914 (GRCm39) |
K208* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,670,838 (GRCm39) |
L808* |
probably null |
Het |
| Lrp5 |
C |
T |
19: 3,647,346 (GRCm39) |
A1299T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,979 (GRCm39) |
Q214R |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,263,641 (GRCm39) |
E6960V |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,156 (GRCm39) |
E120G |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,720 (GRCm39) |
T393A |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,146,508 (GRCm39) |
E1494K |
probably damaging |
Het |
| Nbas |
T |
G |
12: 13,524,230 (GRCm39) |
S1695R |
possibly damaging |
Het |
| Nlgn1 |
G |
T |
3: 25,494,201 (GRCm39) |
Y249* |
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,586,811 (GRCm39) |
L910P |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,931,122 (GRCm39) |
D5838V |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,655 (GRCm39) |
I183T |
probably benign |
Het |
| Or1j18 |
T |
C |
2: 36,624,357 (GRCm39) |
I8T |
probably benign |
Het |
| Or4c113 |
G |
A |
2: 88,885,203 (GRCm39) |
T189M |
possibly damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,892 (GRCm39) |
I140T |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,690,125 (GRCm39) |
S915Y |
possibly damaging |
Het |
| P2rx7 |
T |
A |
5: 122,819,095 (GRCm39) |
C506S |
probably damaging |
Het |
| P4hb |
T |
C |
11: 120,454,044 (GRCm39) |
E350G |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,817,379 (GRCm39) |
V606E |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,258,980 (GRCm39) |
D1576V |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,828,566 (GRCm39) |
V1402F |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,626 (GRCm39) |
T211A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,941 (GRCm39) |
R2065G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,878 (GRCm39) |
V629A |
probably benign |
Het |
| Prkcsh |
G |
A |
9: 21,915,871 (GRCm39) |
V92I |
possibly damaging |
Het |
| Prpf19 |
G |
T |
19: 10,879,780 (GRCm39) |
V320F |
probably damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,239,682 (GRCm39) |
I283F |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,447,915 (GRCm39) |
D480E |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,821,518 (GRCm39) |
C23Y |
probably damaging |
Het |
| Rnf186 |
C |
T |
4: 138,694,673 (GRCm39) |
T71I |
probably benign |
Het |
| Scyl3 |
A |
G |
1: 163,761,265 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
G |
T |
2: 112,166,272 (GRCm39) |
|
probably null |
Het |
| Slc1a2 |
C |
A |
2: 102,607,912 (GRCm39) |
S520Y |
probably damaging |
Het |
| Slc35e2 |
T |
A |
4: 155,696,186 (GRCm39) |
L191Q |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx33 |
T |
C |
9: 56,833,295 (GRCm39) |
H258R |
possibly damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,899,498 (GRCm39) |
H622L |
probably benign |
Het |
| Thbs3 |
A |
T |
3: 89,133,713 (GRCm39) |
E888D |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,124 (GRCm39) |
L159P |
probably benign |
Het |
| Tmem70 |
A |
T |
1: 16,747,497 (GRCm39) |
T205S |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,032,285 (GRCm39) |
H1001L |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,950,064 (GRCm39) |
T292A |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,849,592 (GRCm39) |
R92* |
probably null |
Het |
| Trpa1 |
G |
A |
1: 14,969,612 (GRCm39) |
Q386* |
probably null |
Het |
| Trpc4 |
T |
A |
3: 54,187,410 (GRCm39) |
V454D |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,051 (GRCm39) |
D22E |
probably benign |
Het |
| Ttk |
A |
T |
9: 83,751,316 (GRCm39) |
I798F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,977 (GRCm39) |
I17312V |
probably damaging |
Het |
| Txndc15 |
A |
T |
13: 55,865,875 (GRCm39) |
E113V |
possibly damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,448 (GRCm39) |
|
noncoding transcript |
Het |
| Urb1 |
T |
A |
16: 90,558,583 (GRCm39) |
T1723S |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,265 (GRCm39) |
V323D |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,238 (GRCm39) |
M232T |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,202,813 (GRCm39) |
S577P |
probably damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,128,949 (GRCm39) |
W397* |
probably null |
Het |
| Ypel1 |
T |
A |
16: 16,899,511 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
A |
2: 180,552,763 (GRCm39) |
D484V |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,154 (GRCm39) |
|
probably null |
Het |
| Zfp472 |
A |
T |
17: 33,184,887 (GRCm39) |
H2L |
possibly damaging |
Het |
| Zfp953 |
A |
T |
13: 67,493,422 (GRCm39) |
M74K |
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,419,151 (GRCm39) |
T61M |
probably benign |
Het |
|
| Other mutations in Hectd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Hectd1
|
APN |
12 |
51,806,215 (GRCm39) |
missense |
probably benign |
|
|
IGL00402:Hectd1
|
APN |
12 |
51,815,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00419:Hectd1
|
APN |
12 |
51,810,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00518:Hectd1
|
APN |
12 |
51,823,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL00565:Hectd1
|
APN |
12 |
51,837,181 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00574:Hectd1
|
APN |
12 |
51,820,787 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00576:Hectd1
|
APN |
12 |
51,806,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00788:Hectd1
|
APN |
12 |
51,795,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00978:Hectd1
|
APN |
12 |
51,838,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01328:Hectd1
|
APN |
12 |
51,807,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01337:Hectd1
|
APN |
12 |
51,849,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01634:Hectd1
|
APN |
12 |
51,850,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01731:Hectd1
|
APN |
12 |
51,849,593 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01920:Hectd1
|
APN |
12 |
51,829,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01951:Hectd1
|
APN |
12 |
51,841,280 (GRCm39) |
nonsense |
probably null |
|
|
IGL01994:Hectd1
|
APN |
12 |
51,844,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02140:Hectd1
|
APN |
12 |
51,820,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02150:Hectd1
|
APN |
12 |
51,815,974 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02156:Hectd1
|
APN |
12 |
51,800,916 (GRCm39) |
splice site |
probably benign |
|
|
IGL02177:Hectd1
|
APN |
12 |
51,819,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02502:Hectd1
|
APN |
12 |
51,844,635 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02505:Hectd1
|
APN |
12 |
51,847,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02519:Hectd1
|
APN |
12 |
51,815,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02624:Hectd1
|
APN |
12 |
51,809,233 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02833:Hectd1
|
APN |
12 |
51,810,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02851:Hectd1
|
APN |
12 |
51,814,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02866:Hectd1
|
APN |
12 |
51,837,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Hectd1
|
APN |
12 |
51,815,670 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02987:Hectd1
|
APN |
12 |
51,791,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Hectd1
|
APN |
12 |
51,874,205 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03071:Hectd1
|
APN |
12 |
51,815,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03078:Hectd1
|
APN |
12 |
51,849,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03299:Hectd1
|
APN |
12 |
51,847,671 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Hectd1
|
UTSW |
12 |
51,800,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0039:Hectd1
|
UTSW |
12 |
51,800,608 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0238:Hectd1
|
UTSW |
12 |
51,816,101 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0238:Hectd1
|
UTSW |
12 |
51,816,101 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0239:Hectd1
|
UTSW |
12 |
51,816,101 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0239:Hectd1
|
UTSW |
12 |
51,816,101 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0268:Hectd1
|
UTSW |
12 |
51,815,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0268:Hectd1
|
UTSW |
12 |
51,815,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0409:Hectd1
|
UTSW |
12 |
51,829,339 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1019:Hectd1
|
UTSW |
12 |
51,795,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1072:Hectd1
|
UTSW |
12 |
51,807,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1087:Hectd1
|
UTSW |
12 |
51,823,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1165:Hectd1
|
UTSW |
12 |
51,810,947 (GRCm39) |
splice site |
probably benign |
|
|
R1350:Hectd1
|
UTSW |
12 |
51,809,217 (GRCm39) |
missense |
probably benign |
|
|
R1553:Hectd1
|
UTSW |
12 |
51,820,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1666:Hectd1
|
UTSW |
12 |
51,800,607 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1676:Hectd1
|
UTSW |
12 |
51,791,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Hectd1
|
UTSW |
12 |
51,791,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Hectd1
|
UTSW |
12 |
51,800,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1859:Hectd1
|
UTSW |
12 |
51,853,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Hectd1
|
UTSW |
12 |
51,847,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1982:Hectd1
|
UTSW |
12 |
51,832,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2034:Hectd1
|
UTSW |
12 |
51,803,899 (GRCm39) |
splice site |
probably null |
|
|
R2061:Hectd1
|
UTSW |
12 |
51,841,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2078:Hectd1
|
UTSW |
12 |
51,795,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2176:Hectd1
|
UTSW |
12 |
51,792,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Hectd1
|
UTSW |
12 |
51,853,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2248:Hectd1
|
UTSW |
12 |
51,853,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2282:Hectd1
|
UTSW |
12 |
51,815,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2402:Hectd1
|
UTSW |
12 |
51,792,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3876:Hectd1
|
UTSW |
12 |
51,815,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4027:Hectd1
|
UTSW |
12 |
51,849,219 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4085:Hectd1
|
UTSW |
12 |
51,821,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4115:Hectd1
|
UTSW |
12 |
51,815,506 (GRCm39) |
nonsense |
probably null |
|
|
R4116:Hectd1
|
UTSW |
12 |
51,815,506 (GRCm39) |
nonsense |
probably null |
|
|
R4169:Hectd1
|
UTSW |
12 |
51,837,008 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4434:Hectd1
|
UTSW |
12 |
51,798,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4507:Hectd1
|
UTSW |
12 |
51,837,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4578:Hectd1
|
UTSW |
12 |
51,798,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Hectd1
|
UTSW |
12 |
51,791,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4709:Hectd1
|
UTSW |
12 |
51,834,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4812:Hectd1
|
UTSW |
12 |
51,874,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4883:Hectd1
|
UTSW |
12 |
51,831,030 (GRCm39) |
nonsense |
probably null |
|
|
R4885:Hectd1
|
UTSW |
12 |
51,847,505 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4975:Hectd1
|
UTSW |
12 |
51,809,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4983:Hectd1
|
UTSW |
12 |
51,831,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5007:Hectd1
|
UTSW |
12 |
51,849,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5046:Hectd1
|
UTSW |
12 |
51,797,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Hectd1
|
UTSW |
12 |
51,791,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5164:Hectd1
|
UTSW |
12 |
51,874,272 (GRCm39) |
start codon destroyed |
probably null |
0.60 |
|
R5213:Hectd1
|
UTSW |
12 |
51,849,316 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5535:Hectd1
|
UTSW |
12 |
51,849,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5776:Hectd1
|
UTSW |
12 |
51,810,897 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5846:Hectd1
|
UTSW |
12 |
51,820,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5907:Hectd1
|
UTSW |
12 |
51,845,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5911:Hectd1
|
UTSW |
12 |
51,849,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Hectd1
|
UTSW |
12 |
51,815,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6051:Hectd1
|
UTSW |
12 |
51,800,887 (GRCm39) |
missense |
probably benign |
|
|
R6141:Hectd1
|
UTSW |
12 |
51,792,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6172:Hectd1
|
UTSW |
12 |
51,816,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Hectd1
|
UTSW |
12 |
51,795,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6356:Hectd1
|
UTSW |
12 |
51,791,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Hectd1
|
UTSW |
12 |
51,841,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6909:Hectd1
|
UTSW |
12 |
51,810,945 (GRCm39) |
splice site |
probably null |
|
|
R6971:Hectd1
|
UTSW |
12 |
51,795,526 (GRCm39) |
nonsense |
probably null |
|
|
R7079:Hectd1
|
UTSW |
12 |
51,834,638 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7104:Hectd1
|
UTSW |
12 |
51,874,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7171:Hectd1
|
UTSW |
12 |
51,806,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7296:Hectd1
|
UTSW |
12 |
51,832,635 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7346:Hectd1
|
UTSW |
12 |
51,797,104 (GRCm39) |
missense |
probably benign |
|
|
R7355:Hectd1
|
UTSW |
12 |
51,838,081 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7468:Hectd1
|
UTSW |
12 |
51,791,588 (GRCm39) |
splice site |
probably null |
|
|
R7531:Hectd1
|
UTSW |
12 |
51,853,150 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7532:Hectd1
|
UTSW |
12 |
51,837,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7755:Hectd1
|
UTSW |
12 |
51,849,003 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7807:Hectd1
|
UTSW |
12 |
51,792,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Hectd1
|
UTSW |
12 |
51,819,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7922:Hectd1
|
UTSW |
12 |
51,836,978 (GRCm39) |
nonsense |
probably null |
|
|
R8059:Hectd1
|
UTSW |
12 |
51,837,161 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8085:Hectd1
|
UTSW |
12 |
51,795,679 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8145:Hectd1
|
UTSW |
12 |
51,831,016 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8157:Hectd1
|
UTSW |
12 |
51,838,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8405:Hectd1
|
UTSW |
12 |
51,874,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8505:Hectd1
|
UTSW |
12 |
51,797,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Hectd1
|
UTSW |
12 |
51,834,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8697:Hectd1
|
UTSW |
12 |
51,819,320 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8725:Hectd1
|
UTSW |
12 |
51,849,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8727:Hectd1
|
UTSW |
12 |
51,849,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8911:Hectd1
|
UTSW |
12 |
51,795,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Hectd1
|
UTSW |
12 |
51,791,410 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9037:Hectd1
|
UTSW |
12 |
51,832,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9219:Hectd1
|
UTSW |
12 |
51,800,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9413:Hectd1
|
UTSW |
12 |
51,792,880 (GRCm39) |
nonsense |
probably null |
|
|
R9456:Hectd1
|
UTSW |
12 |
51,832,584 (GRCm39) |
missense |
probably benign |
|
|
R9513:Hectd1
|
UTSW |
12 |
51,816,079 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9640:Hectd1
|
UTSW |
12 |
51,795,197 (GRCm39) |
nonsense |
probably null |
|
|
R9641:Hectd1
|
UTSW |
12 |
51,816,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9713:Hectd1
|
UTSW |
12 |
51,823,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGATGGATAGCTCGCATC -3'
(R):5'- AGAAGTCCTCAGTCCTCTTAAAGTC -3'
Sequencing Primer
(F):5'- TGGATAGCTCGCATCAGTAGCATC -3'
(R):5'- CAGCAGAAGCAGTCGGGTTTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation