Incidental Mutation 'R2153:Loxhd1'
| ID |
234574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxhd1
|
| Ensembl Gene |
ENSMUSG00000032818 |
| Gene Name |
lipoxygenase homology domains 1 |
| Synonyms |
1700096C21Rik, sba |
| MMRRC Submission |
040156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R2153 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77369654-77530626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77443862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 277
(T277S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035501]
[ENSMUST00000096547]
[ENSMUST00000148341]
|
| AlphaFold |
C8YR32 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035501
AA Change: T363S
|
| SMART Domains |
Protein: ENSMUSP00000045450
Gene: ENSMUSG00000032818
AA Change: T363S
| 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: T596S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: T596S
| 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 |
possibly damaging
Transcript: ENSMUST00000148341
AA Change: T277S
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818
AA Change: T277S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,661,307 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
T |
G |
16: 56,572,791 (GRCm39) |
I342L |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,188,187 (GRCm39) |
D1867A |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,381,918 (GRCm39) |
V2416D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,883,952 (GRCm39) |
V670A |
probably damaging |
Het |
| Art5 |
A |
G |
7: 101,747,407 (GRCm39) |
L124P |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 79,997,203 (GRCm39) |
D842E |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,694,229 (GRCm39) |
M1755V |
probably benign |
Het |
| Capns1 |
A |
G |
7: 29,891,765 (GRCm39) |
L124P |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,325,656 (GRCm39) |
S225P |
probably damaging |
Het |
| Cars2 |
C |
T |
8: 11,580,299 (GRCm39) |
A247T |
possibly damaging |
Het |
| Cd46 |
A |
G |
1: 194,744,721 (GRCm39) |
I339T |
probably benign |
Het |
| Ceacam14 |
C |
A |
7: 17,548,153 (GRCm39) |
T81N |
probably benign |
Het |
| Ceacam16 |
G |
A |
7: 19,595,066 (GRCm39) |
P4L |
probably benign |
Het |
| Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,362,666 (GRCm39) |
I340L |
possibly damaging |
Het |
| Col2a1 |
C |
A |
15: 97,885,461 (GRCm39) |
A461S |
unknown |
Het |
| Comtd1 |
T |
C |
14: 21,898,340 (GRCm39) |
E27G |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,732,042 (GRCm39) |
N261S |
probably benign |
Het |
| Dclk1 |
A |
G |
3: 55,154,633 (GRCm39) |
Y21C |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,187,225 (GRCm39) |
I1819N |
probably damaging |
Het |
| Elp1 |
T |
A |
4: 56,779,636 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,074,231 (GRCm39) |
N772S |
probably damaging |
Het |
| Erich1 |
T |
C |
8: 14,128,773 (GRCm39) |
T56A |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,614,798 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,803,545 (GRCm39) |
E807G |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,037,544 (GRCm39) |
Y3732F |
probably damaging |
Het |
| Fbxw18 |
T |
G |
9: 109,522,438 (GRCm39) |
T144P |
probably damaging |
Het |
| Flywch1 |
A |
T |
17: 23,974,624 (GRCm39) |
I672K |
probably benign |
Het |
| Foxk2 |
C |
A |
11: 121,151,213 (GRCm39) |
A86E |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
| Gda |
A |
G |
19: 21,374,869 (GRCm39) |
|
probably null |
Het |
| Gna15 |
T |
C |
10: 81,338,738 (GRCm39) |
Y367C |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,335,856 (GRCm39) |
|
probably null |
Het |
| Greb1 |
T |
C |
12: 16,749,533 (GRCm39) |
S1098G |
probably damaging |
Het |
| Hook3 |
C |
A |
8: 26,560,225 (GRCm39) |
L333F |
probably damaging |
Het |
| Il6 |
C |
T |
5: 30,218,502 (GRCm39) |
Q33* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,401,701 (GRCm39) |
E468G |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,409,651 (GRCm39) |
I228T |
possibly damaging |
Het |
| Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
| Kcnab1 |
A |
T |
3: 65,278,861 (GRCm39) |
I371F |
probably damaging |
Het |
| Kcnj10 |
A |
T |
1: 172,197,455 (GRCm39) |
Y323F |
possibly damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,869,322 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,157,951 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,664,339 (GRCm39) |
M796K |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,503,315 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
T |
A |
3: 32,596,975 (GRCm39) |
H144Q |
probably damaging |
Het |
| Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,842,555 (GRCm39) |
E179G |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,554,944 (GRCm39) |
I1141T |
probably damaging |
Het |
| Olah |
T |
C |
2: 3,366,306 (GRCm39) |
S9G |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,391 (GRCm39) |
D180G |
probably damaging |
Het |
| Or4c106 |
C |
A |
2: 88,683,128 (GRCm39) |
P278H |
probably damaging |
Het |
| Or5b120 |
T |
G |
19: 13,479,852 (GRCm39) |
I48M |
probably damaging |
Het |
| Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
| Or8k22 |
A |
C |
2: 86,162,872 (GRCm39) |
F276C |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,952,328 (GRCm39) |
C2591S |
probably damaging |
Het |
| Pdgfrb |
G |
T |
18: 61,205,828 (GRCm39) |
V605F |
probably damaging |
Het |
| Pik3cb |
T |
A |
9: 98,983,297 (GRCm39) |
K104* |
probably null |
Het |
| Plb1 |
T |
A |
5: 32,471,433 (GRCm39) |
I580N |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
| Plekha7 |
T |
A |
7: 115,775,002 (GRCm39) |
Y213F |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,423,836 (GRCm39) |
D33G |
probably benign |
Het |
| Pnpla2 |
C |
A |
7: 141,039,132 (GRCm39) |
Q371K |
probably damaging |
Het |
| Ppm1n |
A |
G |
7: 19,012,110 (GRCm39) |
Y348H |
probably damaging |
Het |
| Ppp2r1b |
T |
A |
9: 50,777,854 (GRCm39) |
D266E |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,119 (GRCm39) |
S317P |
probably damaging |
Het |
| Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
| Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
| Pum1 |
G |
T |
4: 130,478,802 (GRCm39) |
A571S |
probably damaging |
Het |
| Rexo1 |
G |
T |
10: 80,379,943 (GRCm39) |
C13* |
probably null |
Het |
| Rhpn1 |
A |
T |
15: 75,576,243 (GRCm39) |
M1L |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,530,920 (GRCm39) |
Y937C |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,796,118 (GRCm39) |
L1200P |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,592,759 (GRCm39) |
I4665T |
possibly damaging |
Het |
| Sbno1 |
C |
A |
5: 124,516,606 (GRCm39) |
V1256F |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,692 (GRCm39) |
I644V |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,436,961 (GRCm39) |
F94I |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,940,457 (GRCm39) |
H619Q |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
| Sned1 |
T |
A |
1: 93,202,379 (GRCm39) |
D674E |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,895,788 (GRCm39) |
H1789R |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,852,834 (GRCm39) |
D30G |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,940,527 (GRCm39) |
N61I |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,494,457 (GRCm39) |
Q1006R |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,398,763 (GRCm39) |
D623G |
probably damaging |
Het |
| Trib2 |
A |
G |
12: 15,843,830 (GRCm39) |
F271L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,810,477 (GRCm39) |
V17A |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,797,890 (GRCm39) |
C536S |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
| Yeats2 |
T |
A |
16: 19,972,916 (GRCm39) |
D23E |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,434,662 (GRCm39) |
I2214F |
unknown |
Het |
| Zbtb40 |
T |
C |
4: 136,718,946 (GRCm39) |
D917G |
probably damaging |
Het |
| Zcchc2 |
C |
A |
1: 105,949,453 (GRCm39) |
|
probably null |
Het |
| Zdhhc23 |
G |
T |
16: 43,794,282 (GRCm39) |
Q131K |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,578 (GRCm39) |
T320A |
probably benign |
Het |
| Zfp532 |
A |
G |
18: 65,757,998 (GRCm39) |
T644A |
possibly 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 |
|
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 |
|
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'- ATGTGGGAGTCAGCCAATG -3'
(R):5'- AAGTCTCCACCAGCGAAGTC -3'
Sequencing Primer
(F):5'- AGTCAGCCAATGGTGTCCC -3'
(R):5'- CTGCCATGGATGTTAGCAAATGAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation