Incidental Mutation 'H8562:Loxhd1'
| ID |
44406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxhd1
|
| Ensembl Gene |
ENSMUSG00000032818 |
| Gene Name |
lipoxygenase homology domains 1 |
| Synonyms |
1700096C21Rik, sba |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
H8562 (G3)
of strain
604
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77369654-77530626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77429627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 508
(T508P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035501]
[ENSMUST00000096547]
[ENSMUST00000148341]
|
| AlphaFold |
C8YR32 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035501
AA Change: T275P
|
| SMART Domains |
Protein: ENSMUSP00000045450
Gene: ENSMUSG00000032818
AA Change: T275P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLAT
|
1 |
53 |
3.2e-7 |
PFAM |
|
LH2
|
63 |
176 |
1.1e-4 |
SMART |
|
LH2
|
192 |
306 |
4.02e-4 |
SMART |
|
LH2
|
320 |
442 |
3.79e-6 |
SMART |
|
LH2
|
451 |
567 |
5.92e-6 |
SMART |
|
LH2
|
581 |
696 |
7.67e-3 |
SMART |
|
LH2
|
793 |
913 |
1.47e-11 |
SMART |
|
low complexity region
|
922 |
931 |
N/A |
INTRINSIC |
|
SCOP:d1lox_2
|
949 |
974 |
1e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096547
AA Change: T508P
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: T508P
| 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 |
unknown
Transcript: ENSMUST00000148341
AA Change: T189P
|
| SMART Domains |
Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818
AA Change: T189P
| 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 |
|
| Meta Mutation Damage Score |
0.3638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (109/114) |
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,717 (GRCm39) |
C400R |
probably damaging |
Het |
| 4930519F16Rik |
A |
T |
X: 102,299,463 (GRCm39) |
|
noncoding transcript |
Het |
| 5430402E10Rik |
G |
T |
X: 76,966,340 (GRCm39) |
H117Q |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,974,077 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,933,835 (GRCm39) |
I1190T |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,676,795 (GRCm39) |
Y107H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,892,532 (GRCm39) |
A939T |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,988,427 (GRCm39) |
A11S |
probably benign |
Het |
| Aoah |
T |
A |
13: 21,000,694 (GRCm39) |
C43S |
probably damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,925 (GRCm39) |
S318P |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,267,427 (GRCm39) |
P636S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Bco1 |
G |
T |
8: 117,832,386 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,340,545 (GRCm39) |
G555S |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,448,377 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,561 (GRCm39) |
V735A |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,248,630 (GRCm39) |
V485A |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,017,908 (GRCm39) |
L113P |
probably damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,143,016 (GRCm39) |
L91S |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,926 (GRCm39) |
K324R |
probably benign |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,416 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,298,106 (GRCm39) |
N217I |
probably damaging |
Het |
| Dapk1 |
C |
A |
13: 60,909,126 (GRCm39) |
H1246Q |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,805 (GRCm39) |
C1450* |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,593 (GRCm39) |
M4151K |
probably damaging |
Het |
| Dnai1 |
C |
A |
4: 41,629,833 (GRCm39) |
F452L |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,583,241 (GRCm39) |
M446T |
probably benign |
Het |
| Dytn |
A |
C |
1: 63,714,071 (GRCm39) |
S143A |
possibly damaging |
Het |
| E130308A19Rik |
T |
A |
4: 59,691,033 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,677 (GRCm39) |
V250L |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,465,033 (GRCm39) |
S201P |
probably damaging |
Het |
| Fam222b |
T |
A |
11: 78,045,404 (GRCm39) |
C194S |
probably damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,298,970 (GRCm39) |
|
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,027,386 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,371,123 (GRCm39) |
F134L |
probably damaging |
Het |
| Fyn |
T |
C |
10: 39,387,950 (GRCm39) |
S69P |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,382,841 (GRCm39) |
Y845H |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm5435 |
T |
C |
12: 82,542,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7251 |
A |
G |
13: 49,959,148 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gvin3 |
A |
G |
7: 106,202,356 (GRCm39) |
F296S |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,648 (GRCm39) |
V119A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,594 (GRCm39) |
N530K |
probably benign |
Het |
| Icam5 |
A |
T |
9: 20,946,442 (GRCm39) |
E355V |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,252,158 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
C |
3: 40,647,103 (GRCm39) |
S659P |
probably damaging |
Het |
| Ivns1abp |
T |
C |
1: 151,230,446 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,822,138 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,510,386 (GRCm39) |
S581G |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,347 (GRCm39) |
V741A |
probably benign |
Het |
| Lbr |
A |
T |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,761,918 (GRCm39) |
K41N |
probably damaging |
Het |
| Lypd1 |
C |
T |
1: 125,838,274 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,359,833 (GRCm39) |
V1817A |
probably benign |
Het |
| Mknk2 |
A |
G |
10: 80,504,768 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,631,470 (GRCm39) |
I117L |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,935,164 (GRCm39) |
G220D |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,712,496 (GRCm39) |
H630R |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,066,014 (GRCm39) |
|
probably benign |
Het |
| Ngef |
C |
A |
1: 87,415,529 (GRCm39) |
K288N |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,938 (GRCm39) |
E71G |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,038 (GRCm39) |
Y122H |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,273 (GRCm39) |
I289T |
probably damaging |
Het |
| Or2d2 |
C |
A |
7: 106,728,448 (GRCm39) |
A51S |
probably benign |
Het |
| Or8g51 |
C |
A |
9: 38,609,206 (GRCm39) |
G156V |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,324,446 (GRCm39) |
N190K |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,354,198 (GRCm39) |
V54A |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,746,817 (GRCm39) |
Y19C |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,530,358 (GRCm39) |
S919P |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,920 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,746,584 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,951,072 (GRCm39) |
V1907D |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,231,264 (GRCm39) |
T547A |
possibly damaging |
Het |
| Rdh14 |
G |
T |
12: 10,444,709 (GRCm39) |
V187F |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,095,848 (GRCm39) |
L853P |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,317,106 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,732,027 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,517 (GRCm39) |
P166L |
probably benign |
Het |
| Slc6a19 |
G |
A |
13: 73,848,243 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,770,210 (GRCm39) |
T285S |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,241 (GRCm39) |
A1633S |
probably benign |
Het |
| Srpk1 |
T |
A |
17: 28,821,707 (GRCm39) |
T236S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,645,187 (GRCm39) |
N262S |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,657 (GRCm39) |
N441D |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,007,292 (GRCm39) |
K334R |
probably benign |
Het |
| Sytl5 |
A |
T |
X: 9,826,335 (GRCm39) |
H436L |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,627,000 (GRCm39) |
S983R |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,753,972 (GRCm39) |
L333P |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,314 (GRCm39) |
Y161H |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,715 (GRCm39) |
V941I |
probably benign |
Het |
| Tktl1 |
A |
T |
X: 73,225,470 (GRCm39) |
E72V |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,396,338 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,982,596 (GRCm39) |
I699F |
probably damaging |
Het |
| Vmn1r232 |
T |
C |
17: 21,133,656 (GRCm39) |
T315A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,752 (GRCm39) |
W155R |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,861 (GRCm39) |
I301T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,373,701 (GRCm39) |
V55A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,801 (GRCm39) |
T2681A |
probably benign |
Het |
| Zfp39 |
C |
A |
11: 58,791,512 (GRCm39) |
L58F |
probably damaging |
Het |
| Zfp612 |
T |
C |
8: 110,816,670 (GRCm39) |
F587L |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,387 (GRCm39) |
R174G |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,286 (GRCm39) |
K251E |
probably benign |
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 |
|
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 |
|
R1796:Loxhd1
|
UTSW |
18 |
77,493,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CTGCAAGAGCCAGAAGATCTCTTCC -3'
(R):5'- GCCGACGGCTCAATACTTACTTCC -3'
Sequencing Primer
(F):5'- cacacacacacacacacacac -3'
(R):5'- CCATGATCCTCCGCACAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation