Incidental Mutation 'R1796:Loxhd1'
| ID |
202328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxhd1
|
| Ensembl Gene |
ENSMUSG00000032818 |
| Gene Name |
lipoxygenase homology domains 1 |
| Synonyms |
1700096C21Rik, sba |
| MMRRC Submission |
039826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R1796 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77369654-77530626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77493603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1521
(R1521C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096547]
[ENSMUST00000123166]
[ENSMUST00000123410]
[ENSMUST00000148341]
|
| AlphaFold |
C8YR32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096547
AA Change: R1521C
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: R1521C
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
43 |
158 |
5.64e-5 |
SMART |
|
LH2
|
172 |
290 |
1.64e-9 |
SMART |
|
LH2
|
296 |
409 |
1.1e-4 |
SMART |
|
LH2
|
425 |
539 |
4.02e-4 |
SMART |
|
LH2
|
553 |
675 |
3.79e-6 |
SMART |
|
LH2
|
684 |
800 |
5.92e-6 |
SMART |
|
LH2
|
814 |
936 |
6.91e-8 |
SMART |
|
low complexity region
|
945 |
954 |
N/A |
INTRINSIC |
|
LH2
|
970 |
1086 |
4.81e-7 |
SMART |
|
LH2
|
1101 |
1228 |
5.73e-3 |
SMART |
|
LH2
|
1255 |
1375 |
8.82e-5 |
SMART |
|
Pfam:PLAT
|
1424 |
1540 |
5.4e-10 |
PFAM |
|
LH2
|
1553 |
1666 |
6.41e-3 |
SMART |
|
LH2
|
1680 |
1799 |
6.76e-6 |
SMART |
|
Pfam:PLAT
|
1813 |
1929 |
3.8e-9 |
PFAM |
|
LH2
|
1949 |
2067 |
7.23e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123166
|
| SMART Domains |
Protein: ENSMUSP00000116287
Gene: ENSMUSG00000032818
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
1 |
114 |
6.41e-3 |
SMART |
|
LH2
|
128 |
247 |
6.76e-6 |
SMART |
|
Pfam:PLAT
|
261 |
379 |
1.3e-8 |
PFAM |
|
LH2
|
397 |
515 |
7.23e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123410
AA Change: R655C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
AA Change: R655C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLAT
|
1 |
67 |
4.4e-15 |
PFAM |
|
low complexity region
|
79 |
88 |
N/A |
INTRINSIC |
|
LH2
|
104 |
220 |
4.81e-7 |
SMART |
|
LH2
|
235 |
362 |
5.73e-3 |
SMART |
|
LH2
|
389 |
509 |
8.82e-5 |
SMART |
|
Pfam:PLAT
|
558 |
674 |
9.9e-12 |
PFAM |
|
LH2
|
687 |
800 |
6.41e-3 |
SMART |
|
LH2
|
814 |
933 |
6.76e-6 |
SMART |
|
Pfam:PLAT
|
947 |
1065 |
8.8e-9 |
PFAM |
|
Pfam:PLAT
|
1085 |
1174 |
4.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148341
|
| SMART Domains |
Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLAT
|
1 |
91 |
1.7e-11 |
PFAM |
|
LH2
|
106 |
220 |
4.02e-4 |
SMART |
|
LH2
|
234 |
356 |
3.79e-6 |
SMART |
|
LH2
|
365 |
481 |
5.92e-6 |
SMART |
|
LH2
|
495 |
610 |
7.67e-3 |
SMART |
|
LH2
|
707 |
827 |
1.47e-11 |
SMART |
|
low complexity region
|
836 |
845 |
N/A |
INTRINSIC |
|
LH2
|
861 |
977 |
4.81e-7 |
SMART |
|
LH2
|
992 |
1119 |
5.73e-3 |
SMART |
|
LH2
|
1146 |
1266 |
8.82e-5 |
SMART |
|
Pfam:PLAT
|
1384 |
1469 |
8.9e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice honozygous for an ENU-induced mutation exhibit hearing loss associated with hair cell and spiral ganglion degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,662,156 (GRCm39) |
S30F |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,601 (GRCm39) |
D379G |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,350 (GRCm39) |
I517V |
probably benign |
Het |
| Ajm1 |
C |
T |
2: 25,468,000 (GRCm39) |
G637D |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Angpt4 |
G |
A |
2: 151,780,909 (GRCm39) |
V386M |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,594,535 (GRCm39) |
H360R |
probably null |
Het |
| Asxl1 |
G |
A |
2: 153,243,526 (GRCm39) |
A1359T |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,258,207 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| C1qtnf2 |
T |
A |
11: 43,382,114 (GRCm39) |
F279I |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,221,671 (GRCm39) |
L100* |
probably null |
Het |
| Cd52 |
T |
C |
4: 133,822,295 (GRCm39) |
M1V |
probably null |
Het |
| Celf5 |
T |
C |
10: 81,303,053 (GRCm39) |
I163V |
possibly damaging |
Het |
| Cep250 |
A |
T |
2: 155,834,107 (GRCm39) |
T2010S |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,107 (GRCm39) |
V934M |
probably damaging |
Het |
| Colec11 |
A |
T |
12: 28,644,858 (GRCm39) |
I212N |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,391 (GRCm39) |
|
probably null |
Het |
| Ctnnd1 |
G |
T |
2: 84,445,553 (GRCm39) |
H495N |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,869,686 (GRCm39) |
V28A |
probably benign |
Het |
| Ddo |
A |
T |
10: 40,523,625 (GRCm39) |
Q205L |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 30,983,050 (GRCm39) |
N4195I |
probably benign |
Het |
| E2f1 |
A |
T |
2: 154,402,849 (GRCm39) |
V306E |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,685,312 (GRCm39) |
R601W |
probably damaging |
Het |
| Eef1d |
A |
C |
15: 75,773,024 (GRCm39) |
F25C |
probably damaging |
Het |
| Ehd3 |
A |
T |
17: 74,137,354 (GRCm39) |
I508F |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,831,975 (GRCm39) |
I232F |
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,382,991 (GRCm39) |
D500E |
probably benign |
Het |
| Enc1 |
C |
A |
13: 97,382,993 (GRCm39) |
T501K |
possibly damaging |
Het |
| Fam83f |
C |
T |
15: 80,574,283 (GRCm39) |
R213W |
possibly damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,177 (GRCm39) |
L158* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,854,797 (GRCm39) |
P1808S |
probably damaging |
Het |
| Foxi3 |
C |
A |
6: 70,937,794 (GRCm39) |
T342N |
possibly damaging |
Het |
| Gpr179 |
T |
A |
11: 97,227,382 (GRCm39) |
D1591V |
possibly damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,609,166 (GRCm39) |
V151A |
probably damaging |
Het |
| Grk2 |
T |
G |
19: 4,337,968 (GRCm39) |
I513L |
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,346 (GRCm39) |
E135G |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,296,138 (GRCm39) |
K578* |
probably null |
Het |
| Hycc1 |
T |
G |
5: 24,191,149 (GRCm39) |
T173P |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,198,171 (GRCm39) |
N1533S |
probably benign |
Het |
| Kif3c |
A |
G |
12: 3,417,299 (GRCm39) |
N440S |
probably benign |
Het |
| Klhdc2 |
T |
C |
12: 69,347,071 (GRCm39) |
|
probably null |
Het |
| Kmo |
G |
T |
1: 175,465,461 (GRCm39) |
V72L |
probably benign |
Het |
| Krt71 |
A |
G |
15: 101,651,315 (GRCm39) |
I56T |
possibly damaging |
Het |
| Krt72 |
T |
C |
15: 101,689,987 (GRCm39) |
|
probably null |
Het |
| Krt78 |
T |
A |
15: 101,859,300 (GRCm39) |
Q299L |
probably damaging |
Het |
| Ly6g6f |
T |
C |
17: 35,302,478 (GRCm39) |
S20G |
probably benign |
Het |
| Mecr |
T |
A |
4: 131,592,382 (GRCm39) |
M282K |
probably damaging |
Het |
| Mfsd14a |
G |
T |
3: 116,428,596 (GRCm39) |
A353D |
probably damaging |
Het |
| Mroh9 |
A |
T |
1: 162,873,279 (GRCm39) |
N564K |
probably damaging |
Het |
| Mrs2 |
T |
A |
13: 25,181,111 (GRCm39) |
T237S |
possibly damaging |
Het |
| Mycbpap |
A |
G |
11: 94,398,377 (GRCm39) |
L534S |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,115,183 (GRCm39) |
I1906T |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,151,150 (GRCm39) |
V1935D |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,720,170 (GRCm39) |
I684T |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,119,728 (GRCm39) |
R788H |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,551,129 (GRCm39) |
D2678E |
possibly damaging |
Het |
| Ndufs3 |
A |
C |
2: 90,729,050 (GRCm39) |
Y145* |
probably null |
Het |
| Nrros |
A |
G |
16: 31,962,329 (GRCm39) |
F563L |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,581,633 (GRCm39) |
V602A |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,920,163 (GRCm39) |
R6736L |
possibly damaging |
Het |
| Odr4 |
T |
C |
1: 150,251,305 (GRCm39) |
N283S |
probably benign |
Het |
| Or13c7d |
T |
A |
4: 43,770,495 (GRCm39) |
D172V |
possibly damaging |
Het |
| Or2ag16 |
T |
C |
7: 106,351,756 (GRCm39) |
I280V |
probably benign |
Het |
| Or7g22 |
C |
A |
9: 19,049,213 (GRCm39) |
T308K |
probably benign |
Het |
| Or8d1 |
T |
A |
9: 38,766,820 (GRCm39) |
V154D |
probably benign |
Het |
| Or8g54 |
C |
T |
9: 39,707,301 (GRCm39) |
P210L |
possibly damaging |
Het |
| Or8g55 |
A |
G |
9: 39,785,267 (GRCm39) |
E232G |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,738,576 (GRCm39) |
F751L |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,906,561 (GRCm39) |
|
probably null |
Het |
| Postn |
A |
G |
3: 54,281,177 (GRCm39) |
H434R |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,114 (GRCm39) |
D118G |
possibly damaging |
Het |
| Ralyl |
G |
T |
3: 14,208,493 (GRCm39) |
G211V |
possibly damaging |
Het |
| Rbak |
T |
A |
5: 143,159,202 (GRCm39) |
E617V |
probably damaging |
Het |
| Rbms3 |
A |
T |
9: 116,548,401 (GRCm39) |
W80R |
probably damaging |
Het |
| Retnlg |
A |
T |
16: 48,694,610 (GRCm39) |
Y86F |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,993,896 (GRCm39) |
S643T |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,886,816 (GRCm39) |
L425* |
probably null |
Het |
| Serpina11 |
A |
T |
12: 103,950,954 (GRCm39) |
F256I |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,379,413 (GRCm39) |
Y1076F |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,446,884 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,421,483 (GRCm39) |
T248A |
possibly damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,930,179 (GRCm39) |
Y193H |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,781 (GRCm39) |
K652E |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,077,675 (GRCm39) |
Y692* |
probably null |
Het |
| Sval3 |
A |
G |
6: 41,945,096 (GRCm39) |
Q8R |
probably benign |
Het |
| Synm |
T |
A |
7: 67,383,748 (GRCm39) |
I1305F |
possibly damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,826,215 (GRCm39) |
F169L |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,295,493 (GRCm39) |
D334V |
probably damaging |
Het |
| Tle2 |
G |
A |
10: 81,425,331 (GRCm39) |
|
probably null |
Het |
| Tmem243 |
A |
G |
5: 9,166,489 (GRCm39) |
I30V |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,616,530 (GRCm39) |
*330R |
probably null |
Het |
| Trpm6 |
A |
G |
19: 18,804,931 (GRCm39) |
D961G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,907 (GRCm39) |
V2244A |
probably benign |
Het |
| Unc79 |
G |
T |
12: 103,109,005 (GRCm39) |
V2148F |
probably damaging |
Het |
| Ush2a |
A |
C |
1: 188,643,024 (GRCm39) |
T4129P |
probably benign |
Het |
| Vgll2 |
G |
A |
10: 51,901,324 (GRCm39) |
V85I |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,256 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,134 (GRCm39) |
I91N |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,213,011 (GRCm39) |
Y465* |
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,544,897 (GRCm39) |
E110V |
probably damaging |
Het |
| Wfdc6a |
A |
T |
2: 164,422,231 (GRCm39) |
C123S |
probably damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,247,252 (GRCm39) |
Y30C |
probably damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,812,157 (GRCm39) |
K155R |
probably benign |
Het |
| Zfp560 |
A |
G |
9: 20,263,226 (GRCm39) |
F50S |
possibly damaging |
Het |
| Zfp616 |
C |
T |
11: 73,976,671 (GRCm39) |
T980I |
probably damaging |
Het |
| Zfp808 |
C |
T |
13: 62,319,670 (GRCm39) |
P300S |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,697,740 (GRCm39) |
T323I |
probably damaging |
Het |
|
| Other mutations in Loxhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Loxhd1
|
APN |
18 |
77,483,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00490:Loxhd1
|
APN |
18 |
77,518,770 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00507:Loxhd1
|
APN |
18 |
77,420,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00546:Loxhd1
|
APN |
18 |
77,493,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01369:Loxhd1
|
APN |
18 |
77,416,897 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01767:Loxhd1
|
APN |
18 |
77,374,120 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02245:Loxhd1
|
APN |
18 |
77,427,797 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02388:Loxhd1
|
APN |
18 |
77,456,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02410:Loxhd1
|
APN |
18 |
77,490,648 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02593:Loxhd1
|
APN |
18 |
77,498,235 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02632:Loxhd1
|
APN |
18 |
77,493,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02692:Loxhd1
|
APN |
18 |
77,444,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02796:Loxhd1
|
APN |
18 |
77,456,811 (GRCm39) |
splice site |
probably benign |
|
|
IGL03032:Loxhd1
|
APN |
18 |
77,374,169 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03074:Loxhd1
|
APN |
18 |
77,529,480 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03094:Loxhd1
|
APN |
18 |
77,518,809 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03118:Loxhd1
|
APN |
18 |
77,468,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Loxhd1
|
APN |
18 |
77,496,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Loxhd1
|
APN |
18 |
77,529,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
H8562:Loxhd1
|
UTSW |
18 |
77,429,627 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4494001:Loxhd1
|
UTSW |
18 |
77,529,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Loxhd1
|
UTSW |
18 |
77,427,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0003:Loxhd1
|
UTSW |
18 |
77,427,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0048:Loxhd1
|
UTSW |
18 |
77,496,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Loxhd1
|
UTSW |
18 |
77,468,256 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Loxhd1
|
UTSW |
18 |
77,468,256 (GRCm39) |
splice site |
probably benign |
|
|
R0206:Loxhd1
|
UTSW |
18 |
77,492,562 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0206:Loxhd1
|
UTSW |
18 |
77,492,562 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0208:Loxhd1
|
UTSW |
18 |
77,492,562 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0323:Loxhd1
|
UTSW |
18 |
77,456,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0332:Loxhd1
|
UTSW |
18 |
77,471,526 (GRCm39) |
splice site |
probably null |
|
|
R0367:Loxhd1
|
UTSW |
18 |
77,513,453 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Loxhd1
|
UTSW |
18 |
77,492,665 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0783:Loxhd1
|
UTSW |
18 |
77,517,680 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1132:Loxhd1
|
UTSW |
18 |
77,517,639 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1232:Loxhd1
|
UTSW |
18 |
77,493,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1331:Loxhd1
|
UTSW |
18 |
77,490,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1465:Loxhd1
|
UTSW |
18 |
77,468,269 (GRCm39) |
splice site |
probably null |
|
|
R1465:Loxhd1
|
UTSW |
18 |
77,468,269 (GRCm39) |
splice site |
probably null |
|
|
R1501:Loxhd1
|
UTSW |
18 |
77,444,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Loxhd1
|
UTSW |
18 |
77,490,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Loxhd1
|
UTSW |
18 |
77,409,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1671:Loxhd1
|
UTSW |
18 |
77,492,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Loxhd1
|
UTSW |
18 |
77,380,937 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1735:Loxhd1
|
UTSW |
18 |
77,492,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1796:Loxhd1
|
UTSW |
18 |
77,513,335 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1800:Loxhd1
|
UTSW |
18 |
77,490,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Loxhd1
|
UTSW |
18 |
77,369,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1912:Loxhd1
|
UTSW |
18 |
77,427,833 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1945:Loxhd1
|
UTSW |
18 |
77,492,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Loxhd1
|
UTSW |
18 |
77,409,338 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1997:Loxhd1
|
UTSW |
18 |
77,383,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2086:Loxhd1
|
UTSW |
18 |
77,472,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Loxhd1
|
UTSW |
18 |
77,443,862 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3124:Loxhd1
|
UTSW |
18 |
77,518,774 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3896:Loxhd1
|
UTSW |
18 |
77,469,719 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3907:Loxhd1
|
UTSW |
18 |
77,496,464 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3980:Loxhd1
|
UTSW |
18 |
77,501,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4165:Loxhd1
|
UTSW |
18 |
77,460,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4166:Loxhd1
|
UTSW |
18 |
77,460,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4176:Loxhd1
|
UTSW |
18 |
77,418,755 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4345:Loxhd1
|
UTSW |
18 |
77,486,697 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4354:Loxhd1
|
UTSW |
18 |
77,483,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Loxhd1
|
UTSW |
18 |
77,460,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4402:Loxhd1
|
UTSW |
18 |
77,529,456 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4404:Loxhd1
|
UTSW |
18 |
77,518,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4456:Loxhd1
|
UTSW |
18 |
77,486,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Loxhd1
|
UTSW |
18 |
77,444,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4605:Loxhd1
|
UTSW |
18 |
77,493,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:Loxhd1
|
UTSW |
18 |
77,490,581 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4698:Loxhd1
|
UTSW |
18 |
77,459,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4725:Loxhd1
|
UTSW |
18 |
77,483,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Loxhd1
|
UTSW |
18 |
77,472,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Loxhd1
|
UTSW |
18 |
77,449,432 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5288:Loxhd1
|
UTSW |
18 |
77,451,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Loxhd1
|
UTSW |
18 |
77,498,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Loxhd1
|
UTSW |
18 |
77,420,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5347:Loxhd1
|
UTSW |
18 |
77,454,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Loxhd1
|
UTSW |
18 |
77,429,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5616:Loxhd1
|
UTSW |
18 |
77,492,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Loxhd1
|
UTSW |
18 |
77,444,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Loxhd1
|
UTSW |
18 |
77,374,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5888:Loxhd1
|
UTSW |
18 |
77,490,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6021:Loxhd1
|
UTSW |
18 |
77,499,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Loxhd1
|
UTSW |
18 |
77,469,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Loxhd1
|
UTSW |
18 |
77,469,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Loxhd1
|
UTSW |
18 |
77,383,454 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6174:Loxhd1
|
UTSW |
18 |
77,499,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Loxhd1
|
UTSW |
18 |
77,449,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6377:Loxhd1
|
UTSW |
18 |
77,468,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Loxhd1
|
UTSW |
18 |
77,499,847 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6555:Loxhd1
|
UTSW |
18 |
77,380,965 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6782:Loxhd1
|
UTSW |
18 |
77,518,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Loxhd1
|
UTSW |
18 |
77,529,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Loxhd1
|
UTSW |
18 |
77,460,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7112:Loxhd1
|
UTSW |
18 |
77,476,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Loxhd1
|
UTSW |
18 |
77,501,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7206:Loxhd1
|
UTSW |
18 |
77,529,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7260:Loxhd1
|
UTSW |
18 |
77,420,338 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7432:Loxhd1
|
UTSW |
18 |
77,383,547 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7475:Loxhd1
|
UTSW |
18 |
77,500,001 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7555:Loxhd1
|
UTSW |
18 |
77,483,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7590:Loxhd1
|
UTSW |
18 |
77,409,330 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7612:Loxhd1
|
UTSW |
18 |
77,517,671 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7626:Loxhd1
|
UTSW |
18 |
77,518,882 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7768:Loxhd1
|
UTSW |
18 |
77,472,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7791:Loxhd1
|
UTSW |
18 |
77,471,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Loxhd1
|
UTSW |
18 |
77,496,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7884:Loxhd1
|
UTSW |
18 |
77,518,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7960:Loxhd1
|
UTSW |
18 |
77,472,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7986:Loxhd1
|
UTSW |
18 |
77,462,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8042:Loxhd1
|
UTSW |
18 |
77,518,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8084:Loxhd1
|
UTSW |
18 |
77,427,845 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8088:Loxhd1
|
UTSW |
18 |
77,429,709 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8100:Loxhd1
|
UTSW |
18 |
77,492,512 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8139:Loxhd1
|
UTSW |
18 |
77,468,192 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8152:Loxhd1
|
UTSW |
18 |
77,476,095 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8199:Loxhd1
|
UTSW |
18 |
77,469,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8246:Loxhd1
|
UTSW |
18 |
77,451,242 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8263:Loxhd1
|
UTSW |
18 |
77,462,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Loxhd1
|
UTSW |
18 |
77,427,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8342:Loxhd1
|
UTSW |
18 |
77,493,681 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8401:Loxhd1
|
UTSW |
18 |
77,468,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Loxhd1
|
UTSW |
18 |
77,518,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Loxhd1
|
UTSW |
18 |
77,529,162 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8807:Loxhd1
|
UTSW |
18 |
77,444,468 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8961:Loxhd1
|
UTSW |
18 |
77,472,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Loxhd1
|
UTSW |
18 |
77,518,899 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9079:Loxhd1
|
UTSW |
18 |
77,490,593 (GRCm39) |
missense |
probably benign |
|
|
R9284:Loxhd1
|
UTSW |
18 |
77,501,826 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9312:Loxhd1
|
UTSW |
18 |
77,498,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9619:Loxhd1
|
UTSW |
18 |
77,443,871 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0020:Loxhd1
|
UTSW |
18 |
77,427,258 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Loxhd1
|
UTSW |
18 |
77,483,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Loxhd1
|
UTSW |
18 |
77,529,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCCAGCATATTGAGAGG -3'
(R):5'- TCCAGGCTAGTTTCTGTCAGTATG -3'
Sequencing Primer
(F):5'- TCCAGCATATTGAGAGGAAAGGCTG -3'
(R):5'- CTGTCAGTATGTAGTGATAACTCTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation