Incidental Mutation 'R0049:Loxhd1'
| ID |
40943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxhd1
|
| Ensembl Gene |
ENSMUSG00000032818 |
| Gene Name |
lipoxygenase homology domains 1 |
| Synonyms |
1700096C21Rik, sba |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77369654-77530626 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 77468256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035501]
[ENSMUST00000096547]
[ENSMUST00000123410]
[ENSMUST00000148341]
|
| AlphaFold |
C8YR32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035501
|
| SMART Domains |
Protein: ENSMUSP00000045450
Gene: ENSMUSG00000032818
| 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 |
probably benign
Transcript: ENSMUST00000096547
|
| SMART Domains |
Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
| 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: ENSMUST00000123410
|
| SMART Domains |
Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
| 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: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (114/115) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,267 (GRCm39) |
H9L |
possibly damaging |
Het |
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,661 (GRCm39) |
H611Q |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,709,841 (GRCm39) |
L166* |
probably null |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Akna |
T |
A |
4: 63,312,872 (GRCm39) |
Q417L |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef10 |
A |
C |
8: 15,004,446 (GRCm39) |
R360S |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,766,899 (GRCm39) |
T58A |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,304,570 (GRCm39) |
Y2263F |
probably benign |
Het |
| Cfap36 |
A |
T |
11: 29,196,514 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,663,734 (GRCm39) |
T498A |
probably benign |
Het |
| Chadl |
T |
C |
15: 81,578,213 (GRCm39) |
D6G |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,436,812 (GRCm39) |
I132F |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Crtc1 |
A |
G |
8: 70,844,509 (GRCm39) |
|
probably null |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Dst |
A |
T |
1: 34,314,862 (GRCm39) |
N4267Y |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,127,167 (GRCm39) |
D170V |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,802,965 (GRCm39) |
L106P |
probably damaging |
Het |
| Exoc4 |
G |
C |
6: 33,273,857 (GRCm39) |
|
probably null |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gga3 |
C |
A |
11: 115,477,915 (GRCm39) |
G558* |
probably null |
Het |
| Glt1d1 |
T |
C |
5: 127,740,391 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,582 (GRCm39) |
S1048P |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,861,105 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,990,498 (GRCm39) |
R1677C |
probably damaging |
Het |
| Mynn |
T |
A |
3: 30,661,230 (GRCm39) |
*61K |
probably null |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Oas1e |
C |
A |
5: 120,933,395 (GRCm39) |
A57S |
probably benign |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Or14j10 |
T |
A |
17: 37,935,024 (GRCm39) |
R167S |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,196,990 (GRCm39) |
Y25* |
probably null |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,089,193 (GRCm39) |
N611D |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,501,980 (GRCm39) |
I116F |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,047,374 (GRCm39) |
Q647L |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,508,847 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,231 (GRCm39) |
I545V |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,473 (GRCm39) |
I79N |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,542 (GRCm39) |
V2652E |
possibly damaging |
Het |
| Trim30a |
C |
T |
7: 104,078,559 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Ubtd2 |
A |
C |
11: 32,449,223 (GRCm39) |
|
probably null |
Het |
| Ubtd2 |
G |
T |
11: 32,449,224 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Vwa8 |
T |
A |
14: 79,331,179 (GRCm39) |
M1229K |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,349,932 (GRCm39) |
R111C |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
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 |
|
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 |
|
|
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'- CCAGCGATGGTTAGCAGTTGAAGAG -3'
(R):5'- TCCAAGCCGTAGGCATACAGGAAC -3'
Sequencing Primer
(F):5'- TTAGCAGTTGAAGAGGATGATGGC -3'
(R):5'- gaggaggaagagggagagg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation