Incidental Mutation 'R1778:Hectd1'
| ID |
197267 |
| 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 |
039809-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1778 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51790505-51876319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51800590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 2076
(C2076Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042052]
[ENSMUST00000179265]
|
| AlphaFold |
Q69ZR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042052
AA Change: C2071Y
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: C2071Y
| 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 |
probably damaging
Transcript: ENSMUST00000179265
AA Change: C2076Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: C2076Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000218626
|
| Meta Mutation Damage Score |
0.4957 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (107/109) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
C |
7: 29,260,131 (GRCm39) |
|
noncoding transcript |
Het |
| 4930568D16Rik |
A |
G |
2: 35,244,995 (GRCm39) |
M119T |
probably damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,871 (GRCm39) |
|
probably null |
Het |
| Abca9 |
C |
T |
11: 110,021,542 (GRCm39) |
W1056* |
probably null |
Het |
| Adam20 |
A |
C |
8: 41,249,698 (GRCm39) |
T603P |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,666 (GRCm39) |
L323P |
probably damaging |
Het |
| Afap1l2 |
C |
T |
19: 56,904,638 (GRCm39) |
E628K |
possibly damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,580,580 (GRCm39) |
L1874Q |
possibly damaging |
Het |
| Ak8 |
A |
G |
2: 28,602,333 (GRCm39) |
E89G |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,796,732 (GRCm39) |
R256C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,519,480 (GRCm39) |
T3M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,372,443 (GRCm39) |
K210E |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,836,480 (GRCm39) |
T18A |
unknown |
Het |
| Bub1 |
A |
C |
2: 127,645,042 (GRCm39) |
I960M |
possibly damaging |
Het |
| Cbln2 |
G |
T |
18: 86,731,272 (GRCm39) |
D27Y |
probably benign |
Het |
| Ces2h |
C |
A |
8: 105,741,239 (GRCm39) |
P77Q |
possibly damaging |
Het |
| Cfap410 |
G |
T |
10: 77,818,778 (GRCm39) |
A150S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,527,959 (GRCm39) |
M150K |
probably benign |
Het |
| Chmp3 |
A |
G |
6: 71,554,791 (GRCm39) |
E162G |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,996,861 (GRCm39) |
N161S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,511,867 (GRCm39) |
|
probably benign |
Het |
| Cuedc2 |
C |
T |
19: 46,320,079 (GRCm39) |
G105D |
probably benign |
Het |
| Cyp2j7 |
A |
C |
4: 96,087,627 (GRCm39) |
F428V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,427,210 (GRCm39) |
I762V |
possibly damaging |
Het |
| Def6 |
G |
A |
17: 28,439,160 (GRCm39) |
R257Q |
probably benign |
Het |
| Dkkl1 |
A |
T |
7: 44,860,819 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,677,625 (GRCm39) |
L433P |
probably damaging |
Het |
| Eif2s3y |
C |
T |
Y: 1,011,287 (GRCm39) |
R33C |
probably benign |
Het |
| Elavl2 |
T |
A |
4: 91,141,715 (GRCm39) |
Y269F |
probably damaging |
Het |
| Esco2 |
A |
G |
14: 66,068,711 (GRCm39) |
S200P |
possibly damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,292,626 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
C |
A |
8: 106,056,309 (GRCm39) |
D1135Y |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,383,796 (GRCm39) |
N41D |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,410,907 (GRCm39) |
|
probably null |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,277 (GRCm39) |
D71G |
probably damaging |
Het |
| Gm10271 |
A |
G |
10: 116,797,844 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
T |
18: 60,404,020 (GRCm39) |
Y24* |
probably null |
Het |
| Greb1 |
G |
A |
12: 16,740,895 (GRCm39) |
R1396C |
probably benign |
Het |
| Hnrnpu |
A |
G |
1: 178,152,806 (GRCm39) |
|
probably benign |
Het |
| Ice2 |
T |
C |
9: 69,322,930 (GRCm39) |
I475T |
probably benign |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,593 (GRCm39) |
Q288L |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,386,411 (GRCm39) |
D377E |
possibly damaging |
Het |
| Ik |
T |
C |
18: 36,889,871 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,063,445 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,577,972 (GRCm39) |
D768G |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,697,362 (GRCm39) |
T87A |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,837,274 (GRCm39) |
|
probably benign |
Het |
| Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,374,682 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,845,944 (GRCm39) |
D791G |
probably damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,809,908 (GRCm39) |
V315M |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,111,823 (GRCm39) |
D565G |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Msrb2 |
T |
A |
2: 19,388,114 (GRCm39) |
D87E |
probably benign |
Het |
| Muc20 |
T |
C |
16: 32,614,511 (GRCm39) |
T289A |
possibly damaging |
Het |
| Myo15a |
C |
A |
11: 60,369,238 (GRCm39) |
P666Q |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,088,421 (GRCm39) |
P579L |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,348,972 (GRCm39) |
M1920R |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,210,738 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
G |
3: 90,096,793 (GRCm39) |
E1334G |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,127,388 (GRCm39) |
C942S |
probably damaging |
Het |
| Or52e8b |
A |
T |
7: 104,673,370 (GRCm39) |
N272K |
probably benign |
Het |
| Or5an1c |
T |
A |
19: 12,218,819 (GRCm39) |
I69F |
probably benign |
Het |
| Or6c6c |
T |
C |
10: 129,541,574 (GRCm39) |
Y276H |
probably benign |
Het |
| Or9s13 |
G |
A |
1: 92,548,342 (GRCm39) |
G238E |
possibly damaging |
Het |
| Or9s14 |
A |
T |
1: 92,535,831 (GRCm39) |
N91Y |
possibly damaging |
Het |
| P4ha3 |
A |
T |
7: 99,949,898 (GRCm39) |
|
probably null |
Het |
| Pbld2 |
C |
T |
10: 62,890,150 (GRCm39) |
A186V |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,710,083 (GRCm39) |
Y411N |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,812,369 (GRCm39) |
D44E |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,778,196 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,769,234 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,493,278 (GRCm39) |
N1851S |
probably benign |
Het |
| Prl7a2 |
G |
A |
13: 27,843,254 (GRCm39) |
T183I |
probably damaging |
Het |
| Prxl2b |
A |
T |
4: 154,981,814 (GRCm39) |
V151D |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,264,576 (GRCm39) |
L335H |
probably damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,984,865 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,720,590 (GRCm39) |
S261P |
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,269 (GRCm39) |
T150A |
probably benign |
Het |
| Rnf111 |
A |
G |
9: 70,383,394 (GRCm39) |
S180P |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,759,856 (GRCm39) |
M1554V |
probably damaging |
Het |
| Rnf215 |
T |
A |
11: 4,085,873 (GRCm39) |
Y117* |
probably null |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,124 (GRCm39) |
|
noncoding transcript |
Het |
| Rogdi |
T |
C |
16: 4,828,369 (GRCm39) |
T165A |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,328,485 (GRCm39) |
Y431C |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,494,405 (GRCm39) |
F844S |
probably damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,058,814 (GRCm39) |
E257D |
probably benign |
Het |
| Sim1 |
C |
A |
10: 50,857,649 (GRCm39) |
C466* |
probably null |
Het |
| Spi1 |
T |
A |
2: 90,929,867 (GRCm39) |
H46Q |
probably damaging |
Het |
| Sumf2 |
C |
A |
5: 129,873,909 (GRCm39) |
|
probably benign |
Het |
| Tbcb |
A |
G |
7: 29,931,037 (GRCm39) |
Y28H |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,254,927 (GRCm39) |
C1752Y |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,067,079 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,903,968 (GRCm39) |
W591R |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
| Trappc14 |
T |
C |
5: 138,260,739 (GRCm39) |
|
probably null |
Het |
| Trim13 |
G |
T |
14: 61,843,068 (GRCm39) |
A362S |
probably benign |
Het |
| Trim47 |
T |
A |
11: 116,000,646 (GRCm39) |
D134V |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vnn1 |
G |
T |
10: 23,775,415 (GRCm39) |
A222S |
possibly damaging |
Het |
| Wdr17 |
A |
G |
8: 55,143,249 (GRCm39) |
W110R |
probably damaging |
Het |
| Wwp1 |
G |
T |
4: 19,627,892 (GRCm39) |
Y700* |
probably null |
Het |
| Zbtb21 |
T |
C |
16: 97,751,785 (GRCm39) |
S661G |
probably benign |
Het |
| Zfp955b |
A |
G |
17: 33,521,788 (GRCm39) |
K419R |
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 |
|
R1856:Hectd1
|
UTSW |
12 |
51,791,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCAGTCCCTCCATCAATCTTAGCAG -3'
(R):5'- TTACAGATGGCGATGAGCAGCCTC -3'
Sequencing Primer
(F):5'- GACGCACCAAATGCAGTACA -3'
(R):5'- CGATGAGCAGCCTCAGTTTAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation