Incidental Mutation 'R7203:Loxhd1'
| ID |
560835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxhd1
|
| Ensembl Gene |
ENSMUSG00000032818 |
| Gene Name |
lipoxygenase homology domains 1 |
| Synonyms |
1700096C21Rik, sba |
| MMRRC Submission |
045281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77369654-77530626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77501892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1737
(D1737G)
|
| 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: D1737G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: D1737G
| 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 damaging
Transcript: ENSMUST00000123166
AA Change: D185G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116287
Gene: ENSMUSG00000032818
AA Change: D185G
| 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 |
probably damaging
Transcript: ENSMUST00000123410
AA Change: D871G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
AA Change: D871G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (108/108) |
| 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 |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,317 (GRCm39) |
V184A |
probably benign |
Het |
| Aars2 |
A |
G |
17: 45,827,497 (GRCm39) |
Y513C |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,738,033 (GRCm39) |
C136Y |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,547,782 (GRCm39) |
K414R |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,155,118 (GRCm39) |
Y83C |
possibly damaging |
Het |
| Atp10a |
G |
T |
7: 58,436,221 (GRCm39) |
R337L |
probably benign |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,538 (GRCm39) |
Q66L |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,487,351 (GRCm39) |
N1321K |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,209,959 (GRCm39) |
M437K |
probably damaging |
Het |
| Bap1 |
C |
A |
14: 30,976,126 (GRCm39) |
P147Q |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,414,403 (GRCm39) |
T372I |
possibly damaging |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| Btrc |
A |
G |
19: 45,501,967 (GRCm39) |
|
probably null |
Het |
| C130050O18Rik |
A |
C |
5: 139,400,129 (GRCm39) |
I61L |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,425,258 (GRCm39) |
S278P |
probably damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,631,815 (GRCm39) |
D512G |
possibly damaging |
Het |
| Chat |
T |
C |
14: 32,141,014 (GRCm39) |
D461G |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,668,635 (GRCm39) |
V456D |
probably benign |
Het |
| Cib1 |
T |
C |
7: 79,882,120 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cubn |
T |
G |
2: 13,355,814 (GRCm39) |
H1806P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,844,149 (GRCm39) |
V56E |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,803,756 (GRCm39) |
N1032D |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,188,723 (GRCm39) |
E1756V |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,996,339 (GRCm39) |
T2666A |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,009,257 (GRCm39) |
I2135N |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,150,528 (GRCm39) |
E745V |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,158,927 (GRCm39) |
N1695I |
probably damaging |
Het |
| Esf1 |
C |
T |
2: 140,006,139 (GRCm39) |
R336Q |
possibly damaging |
Het |
| Fam161a |
A |
G |
11: 22,971,664 (GRCm39) |
|
probably null |
Het |
| Fam89a |
T |
C |
8: 125,478,418 (GRCm39) |
E44G |
possibly damaging |
Het |
| Fndc3b |
A |
T |
3: 27,510,634 (GRCm39) |
D829E |
probably benign |
Het |
| Fxr1 |
C |
T |
3: 34,100,689 (GRCm39) |
T125I |
possibly damaging |
Het |
| Gfer |
T |
C |
17: 24,914,836 (GRCm39) |
D69G |
probably damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,335,711 (GRCm39) |
S471T |
probably benign |
Het |
| Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,188,807 (GRCm39) |
I447V |
probably benign |
Het |
| H2al2c |
C |
T |
Y: 2,599,234 (GRCm39) |
L46F |
possibly damaging |
Het |
| Hao2 |
A |
C |
3: 98,784,598 (GRCm39) |
|
probably null |
Het |
| Ifitm10 |
T |
C |
7: 141,882,305 (GRCm39) |
E155G |
probably benign |
Het |
| Igkv8-16 |
C |
A |
6: 70,363,794 (GRCm39) |
W76L |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,834,648 (GRCm39) |
F75I |
possibly damaging |
Het |
| Ints14 |
T |
A |
9: 64,871,701 (GRCm39) |
M13K |
probably damaging |
Het |
| Ipmk |
A |
T |
10: 71,199,298 (GRCm39) |
D53V |
possibly damaging |
Het |
| Iqcn |
A |
T |
8: 71,169,597 (GRCm39) |
E1229V |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,234,906 (GRCm39) |
F451L |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,272,560 (GRCm39) |
F284S |
probably damaging |
Het |
| Kctd5 |
T |
C |
17: 24,292,209 (GRCm39) |
D65G |
probably benign |
Het |
| Klrc1 |
A |
T |
6: 129,654,184 (GRCm39) |
S148T |
probably benign |
Het |
| Kmt5b |
A |
G |
19: 3,864,147 (GRCm39) |
K404E |
probably damaging |
Het |
| Krt9 |
A |
C |
11: 100,081,617 (GRCm39) |
M304R |
probably damaging |
Het |
| Krtap5-1 |
A |
T |
7: 141,850,299 (GRCm39) |
S143T |
unknown |
Het |
| Kyat3 |
A |
G |
3: 142,426,162 (GRCm39) |
N68D |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,571,365 (GRCm39) |
D427G |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,278 (GRCm39) |
|
probably null |
Het |
| Lpo |
C |
A |
11: 87,700,077 (GRCm39) |
L521F |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,920,573 (GRCm39) |
S1477P |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,220,584 (GRCm39) |
L14M |
probably damaging |
Het |
| Ly75 |
G |
A |
2: 60,154,196 (GRCm39) |
R1084* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,060,456 (GRCm39) |
D764G |
probably benign |
Het |
| Mmut |
A |
T |
17: 41,249,564 (GRCm39) |
M180L |
probably benign |
Het |
| Mrgprd |
A |
T |
7: 144,876,086 (GRCm39) |
D319V |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,522,490 (GRCm39) |
L897P |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,161,291 (GRCm39) |
M247K |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,320,533 (GRCm39) |
D868G |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,999 (GRCm39) |
N140S |
probably damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,602 (GRCm39) |
K196E |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,836,080 (GRCm39) |
K532R |
probably benign |
Het |
| Or6k4 |
T |
A |
1: 173,964,680 (GRCm39) |
Y123* |
probably null |
Het |
| Or8d6 |
T |
A |
9: 39,853,805 (GRCm39) |
V83E |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,200,589 (GRCm39) |
I199N |
unknown |
Het |
| Pbxip1 |
A |
T |
3: 89,354,735 (GRCm39) |
D418V |
possibly damaging |
Het |
| Pde2a |
C |
A |
7: 101,159,151 (GRCm39) |
R761S |
possibly damaging |
Het |
| Phf10 |
A |
T |
17: 15,166,575 (GRCm39) |
C432S |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,522 (GRCm39) |
D1271G |
probably damaging |
Het |
| Plin1 |
A |
T |
7: 79,373,192 (GRCm39) |
L259Q |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pou6f2 |
T |
A |
13: 18,414,379 (GRCm39) |
Q132L |
unknown |
Het |
| Ppa2 |
A |
T |
3: 133,036,199 (GRCm39) |
N118Y |
possibly damaging |
Het |
| Prickle2 |
T |
C |
6: 92,387,959 (GRCm39) |
E537G |
possibly damaging |
Het |
| Prl3d1 |
A |
G |
13: 27,282,684 (GRCm39) |
I141V |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,172 (GRCm39) |
V179D |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,489 (GRCm39) |
F1669L |
probably benign |
Het |
| Prrg4 |
T |
A |
2: 104,669,787 (GRCm39) |
E110V |
possibly damaging |
Het |
| Rfx5 |
C |
A |
3: 94,866,187 (GRCm39) |
H495Q |
unknown |
Het |
| Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,491 (GRCm39) |
Y433C |
probably damaging |
Het |
| Rpl35rt |
A |
T |
1: 156,193,657 (GRCm39) |
I4F |
probably damaging |
Het |
| Rtn4rl1 |
C |
T |
11: 75,156,576 (GRCm39) |
S336F |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,578,663 (GRCm39) |
D1446G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,031,931 (GRCm39) |
T1002K |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,036,422 (GRCm39) |
S409P |
probably benign |
Het |
| Sowahc |
A |
G |
10: 59,058,100 (GRCm39) |
T79A |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,129,248 (GRCm39) |
T1254I |
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,513 (GRCm39) |
C166S |
probably benign |
Het |
| Tarbp2 |
A |
G |
15: 102,430,922 (GRCm39) |
H225R |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,648 (GRCm39) |
K530* |
probably null |
Het |
| Terf2ip |
A |
G |
8: 112,744,618 (GRCm39) |
I312V |
probably benign |
Het |
| Tgfb1 |
T |
C |
7: 25,391,964 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
C |
17: 14,891,720 (GRCm39) |
D939G |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,483,067 (GRCm39) |
I67K |
probably benign |
Het |
| Ubn1 |
G |
T |
16: 4,895,080 (GRCm39) |
V709F |
possibly damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,276,258 (GRCm39) |
K339E |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,882 (GRCm39) |
S266P |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,038 (GRCm39) |
I722T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,577 (GRCm39) |
K441R |
probably benign |
Het |
| Wapl |
C |
A |
14: 34,458,648 (GRCm39) |
D903E |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,001 (GRCm39) |
V442D |
probably benign |
Het |
| Zan |
T |
C |
5: 137,432,358 (GRCm39) |
N2313S |
unknown |
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 |
|
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 |
|
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'- AAATTCTGTCACCGTGTGCC -3'
(R):5'- TGGTGCAATCATGGCTGAGC -3'
Sequencing Primer
(F):5'- TTTGTGGAGAACGGCCAGC -3'
(R):5'- CCACCTTCCTGCTGGCATAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation