Incidental Mutation 'R0433:Abcb5'
| ID |
38952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb5
|
| Ensembl Gene |
ENSMUSG00000072791 |
| Gene Name |
ATP-binding cassette, sub-family B member 5 |
| Synonyms |
9230106F14Rik |
| MMRRC Submission |
038635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R0433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
118831559-118930156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118841545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 967
(M967V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
| AlphaFold |
B5X0E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035515
AA Change: M967V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: M967V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
49 |
338 |
1.9e-74 |
PFAM |
|
AAA
|
414 |
606 |
2.1e-19 |
SMART |
|
Pfam:ABC_membrane
|
693 |
967 |
7.3e-59 |
PFAM |
|
Blast:AAA
|
969 |
1040 |
2e-11 |
BLAST |
|
AAA
|
1043 |
1231 |
8.26e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
99% (108/109) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,636 (GRCm39) |
V199A |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,379,591 (GRCm39) |
L951Q |
probably damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,032 (GRCm39) |
S76C |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,675,877 (GRCm39) |
I182M |
probably benign |
Het |
| Bpi |
A |
G |
2: 158,100,339 (GRCm39) |
D42G |
probably damaging |
Het |
| C7 |
G |
T |
15: 5,018,398 (GRCm39) |
T815K |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
| Camk1g |
A |
G |
1: 193,036,366 (GRCm39) |
F165L |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
A |
C |
14: 36,640,486 (GRCm39) |
F37L |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,814,210 (GRCm39) |
F208S |
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,814,942 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
A |
C |
5: 5,699,853 (GRCm39) |
D62E |
probably damaging |
Het |
| Cnksr2 |
A |
T |
X: 156,671,554 (GRCm39) |
M483K |
probably benign |
Het |
| Cnksr2 |
C |
A |
X: 156,671,553 (GRCm39) |
M483I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,783,110 (GRCm39) |
S60G |
possibly damaging |
Het |
| Col4a3 |
C |
T |
1: 82,647,940 (GRCm39) |
P484S |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,945,193 (GRCm39) |
G974R |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,246,046 (GRCm39) |
S1473P |
probably benign |
Het |
| Dbnl |
T |
G |
11: 5,746,825 (GRCm39) |
|
probably null |
Het |
| Dhcr7 |
T |
C |
7: 143,394,200 (GRCm39) |
C114R |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,350,114 (GRCm39) |
D2340Y |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,960,450 (GRCm39) |
N67D |
probably benign |
Het |
| Dusp10 |
T |
A |
1: 183,801,393 (GRCm39) |
Y387N |
probably damaging |
Het |
| Eipr1 |
C |
T |
12: 28,909,330 (GRCm39) |
T199I |
possibly damaging |
Het |
| Emc2 |
T |
G |
15: 43,360,520 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
G |
10: 24,696,495 (GRCm39) |
S147P |
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,608,560 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,686 (GRCm39) |
T2244K |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,190,135 (GRCm39) |
S1453P |
possibly damaging |
Het |
| Fez2 |
A |
T |
17: 78,725,476 (GRCm39) |
F13I |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,246 (GRCm39) |
K530R |
probably damaging |
Het |
| Gpa33 |
T |
C |
1: 165,991,330 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
T |
C |
11: 114,696,823 (GRCm39) |
I123T |
probably damaging |
Het |
| Il21 |
T |
G |
3: 37,286,684 (GRCm39) |
I11L |
possibly damaging |
Het |
| Klhl7 |
A |
G |
5: 24,332,700 (GRCm39) |
E86G |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,430,989 (GRCm39) |
A11S |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,934,542 (GRCm39) |
D2115V |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,360,582 (GRCm39) |
D185G |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,102,822 (GRCm39) |
|
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,624,434 (GRCm39) |
I698V |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,010,115 (GRCm39) |
V83A |
possibly damaging |
Het |
| Melk |
C |
A |
4: 44,340,614 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,486 (GRCm39) |
V150I |
probably benign |
Het |
| Morn3 |
C |
A |
5: 123,177,396 (GRCm39) |
M129I |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,116 (GRCm39) |
D1040E |
probably benign |
Het |
| Mroh5 |
T |
C |
15: 73,661,877 (GRCm39) |
N438S |
probably benign |
Het |
| Mroh5 |
T |
A |
15: 73,662,657 (GRCm39) |
Q387L |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,599 (GRCm39) |
D1168G |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,860,927 (GRCm38) |
E493G |
probably benign |
Het |
| Nipsnap3a |
A |
G |
4: 53,000,316 (GRCm39) |
Y227C |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,085,244 (GRCm39) |
T112S |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,629 (GRCm39) |
V401A |
probably benign |
Het |
| Nr1h2 |
A |
G |
7: 44,199,411 (GRCm39) |
*365Q |
probably null |
Het |
| Or13p5 |
T |
C |
4: 118,592,287 (GRCm39) |
V187A |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,469 (GRCm39) |
I207T |
probably damaging |
Het |
| Pacs2 |
T |
A |
12: 113,020,464 (GRCm39) |
V279D |
possibly damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,746,646 (GRCm39) |
C171Y |
probably benign |
Het |
| Pde11a |
T |
A |
2: 76,168,050 (GRCm39) |
D301V |
possibly damaging |
Het |
| Pfpl |
T |
G |
19: 12,406,839 (GRCm39) |
N363K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,933,742 (GRCm39) |
S201R |
probably damaging |
Het |
| Pip4k2c |
G |
A |
10: 127,044,815 (GRCm39) |
P66S |
probably benign |
Het |
| Pou2f3 |
G |
T |
9: 43,038,693 (GRCm39) |
H392N |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,697 (GRCm39) |
G400C |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,220,620 (GRCm38) |
I1219T |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,124 (GRCm39) |
D435G |
probably damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,084,899 (GRCm39) |
S598T |
probably benign |
Het |
| Sdccag8 |
C |
A |
1: 176,672,387 (GRCm39) |
|
probably null |
Het |
| Sec16b |
C |
A |
1: 157,362,279 (GRCm39) |
Y43* |
probably null |
Het |
| Sele |
T |
C |
1: 163,876,813 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,749,016 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
T |
C |
15: 11,025,831 (GRCm39) |
Y394H |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,120,327 (GRCm39) |
I788S |
probably benign |
Het |
| Slmap |
A |
T |
14: 26,174,749 (GRCm39) |
L161* |
probably null |
Het |
| Slx4 |
A |
T |
16: 3,803,882 (GRCm39) |
D977E |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,816,423 (GRCm39) |
Y536* |
probably null |
Het |
| Spata31f3 |
A |
G |
4: 42,874,013 (GRCm39) |
|
probably benign |
Het |
| Spen |
A |
T |
4: 141,211,069 (GRCm39) |
M608K |
unknown |
Het |
| St8sia4 |
G |
C |
1: 95,519,429 (GRCm39) |
T353R |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,679,355 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
C |
T |
4: 132,585,741 (GRCm39) |
G213D |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,084,123 (GRCm39) |
N270Y |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 111,992,015 (GRCm39) |
R438* |
probably null |
Het |
| Tert |
T |
C |
13: 73,775,200 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,303,245 (GRCm39) |
F244L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,401 (GRCm39) |
F852L |
possibly damaging |
Het |
| Trpv1 |
T |
C |
11: 73,143,834 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
G |
9: 120,873,885 (GRCm39) |
I1182T |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,752,288 (GRCm39) |
Y98H |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,105 (GRCm39) |
I854V |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,603,464 (GRCm39) |
S361G |
probably damaging |
Het |
| Uspl1 |
C |
A |
5: 149,151,625 (GRCm39) |
Q743K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,183,054 (GRCm39) |
V215A |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,915,335 (GRCm39) |
H94L |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,690,393 (GRCm39) |
V285A |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,300,116 (GRCm39) |
V983A |
probably damaging |
Het |
| Zcchc9 |
C |
T |
13: 91,954,081 (GRCm39) |
R58H |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,345,302 (GRCm39) |
V1227A |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,959 (GRCm39) |
K64E |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,764 (GRCm39) |
T319A |
probably benign |
Het |
| Zp3r |
T |
G |
1: 130,504,870 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abcb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Abcb5
|
APN |
12 |
118,854,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00092:Abcb5
|
APN |
12 |
118,892,430 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00503:Abcb5
|
APN |
12 |
118,871,336 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00776:Abcb5
|
APN |
12 |
118,883,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Abcb5
|
APN |
12 |
118,849,911 (GRCm39) |
missense |
probably benign |
|
|
IGL01302:Abcb5
|
APN |
12 |
118,881,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Abcb5
|
APN |
12 |
118,836,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Abcb5
|
APN |
12 |
118,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Abcb5
|
APN |
12 |
118,875,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01784:Abcb5
|
APN |
12 |
118,854,399 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01967:Abcb5
|
APN |
12 |
118,831,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01987:Abcb5
|
APN |
12 |
118,891,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Abcb5
|
APN |
12 |
118,904,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Abcb5
|
APN |
12 |
118,838,490 (GRCm39) |
missense |
probably benign |
|
|
IGL02292:Abcb5
|
APN |
12 |
118,881,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Abcb5
|
APN |
12 |
118,904,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Abcb5
|
APN |
12 |
118,870,003 (GRCm39) |
splice site |
probably benign |
|
|
IGL02685:Abcb5
|
APN |
12 |
118,869,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02824:Abcb5
|
APN |
12 |
118,854,420 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02876:Abcb5
|
APN |
12 |
118,883,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Abcb5
|
APN |
12 |
118,908,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03030:Abcb5
|
APN |
12 |
118,904,104 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03062:Abcb5
|
APN |
12 |
118,899,822 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03200:Abcb5
|
APN |
12 |
118,928,989 (GRCm39) |
splice site |
probably benign |
|
|
IGL03407:Abcb5
|
APN |
12 |
118,904,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
alphabet
|
UTSW |
12 |
118,854,353 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
google
|
UTSW |
12 |
118,831,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
F5770:Abcb5
|
UTSW |
12 |
118,849,914 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4366001:Abcb5
|
UTSW |
12 |
118,899,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Abcb5
|
UTSW |
12 |
118,854,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Abcb5
|
UTSW |
12 |
118,891,129 (GRCm39) |
missense |
probably benign |
|
|
R0219:Abcb5
|
UTSW |
12 |
118,849,885 (GRCm39) |
splice site |
probably benign |
|
|
R0312:Abcb5
|
UTSW |
12 |
118,836,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Abcb5
|
UTSW |
12 |
118,928,986 (GRCm39) |
splice site |
probably benign |
|
|
R0359:Abcb5
|
UTSW |
12 |
118,904,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Abcb5
|
UTSW |
12 |
118,904,147 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0815:Abcb5
|
UTSW |
12 |
118,865,184 (GRCm39) |
splice site |
probably benign |
|
|
R0900:Abcb5
|
UTSW |
12 |
118,904,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Abcb5
|
UTSW |
12 |
118,869,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0988:Abcb5
|
UTSW |
12 |
118,896,310 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1125:Abcb5
|
UTSW |
12 |
118,875,282 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1437:Abcb5
|
UTSW |
12 |
118,838,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Abcb5
|
UTSW |
12 |
118,831,681 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1469:Abcb5
|
UTSW |
12 |
118,831,681 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1678:Abcb5
|
UTSW |
12 |
118,929,064 (GRCm39) |
start gained |
probably benign |
|
|
R1726:Abcb5
|
UTSW |
12 |
118,871,267 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1726:Abcb5
|
UTSW |
12 |
118,838,536 (GRCm39) |
splice site |
probably null |
|
|
R1836:Abcb5
|
UTSW |
12 |
118,831,696 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1934:Abcb5
|
UTSW |
12 |
118,871,235 (GRCm39) |
splice site |
probably null |
|
|
R1976:Abcb5
|
UTSW |
12 |
118,854,417 (GRCm39) |
missense |
probably benign |
|
|
R2005:Abcb5
|
UTSW |
12 |
118,841,562 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2068:Abcb5
|
UTSW |
12 |
118,904,303 (GRCm39) |
nonsense |
probably null |
|
|
R2181:Abcb5
|
UTSW |
12 |
118,831,681 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2191:Abcb5
|
UTSW |
12 |
118,831,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Abcb5
|
UTSW |
12 |
118,836,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Abcb5
|
UTSW |
12 |
118,838,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3825:Abcb5
|
UTSW |
12 |
118,865,087 (GRCm39) |
splice site |
probably null |
|
|
R3919:Abcb5
|
UTSW |
12 |
118,854,353 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4049:Abcb5
|
UTSW |
12 |
118,832,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4409:Abcb5
|
UTSW |
12 |
118,836,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4606:Abcb5
|
UTSW |
12 |
118,896,345 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4705:Abcb5
|
UTSW |
12 |
118,929,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4954:Abcb5
|
UTSW |
12 |
118,875,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4966:Abcb5
|
UTSW |
12 |
118,850,626 (GRCm39) |
intron |
probably benign |
|
|
R5169:Abcb5
|
UTSW |
12 |
118,841,552 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Abcb5
|
UTSW |
12 |
118,875,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5333:Abcb5
|
UTSW |
12 |
118,831,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Abcb5
|
UTSW |
12 |
118,831,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5373:Abcb5
|
UTSW |
12 |
118,850,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Abcb5
|
UTSW |
12 |
118,875,234 (GRCm39) |
missense |
probably benign |
|
|
R5416:Abcb5
|
UTSW |
12 |
118,871,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Abcb5
|
UTSW |
12 |
118,891,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Abcb5
|
UTSW |
12 |
118,904,425 (GRCm39) |
missense |
probably null |
1.00 |
|
R5566:Abcb5
|
UTSW |
12 |
118,899,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5685:Abcb5
|
UTSW |
12 |
118,896,348 (GRCm39) |
splice site |
probably null |
|
|
R5691:Abcb5
|
UTSW |
12 |
118,890,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5742:Abcb5
|
UTSW |
12 |
118,881,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5852:Abcb5
|
UTSW |
12 |
118,891,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Abcb5
|
UTSW |
12 |
118,832,516 (GRCm39) |
nonsense |
probably null |
|
|
R5994:Abcb5
|
UTSW |
12 |
118,928,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6295:Abcb5
|
UTSW |
12 |
118,838,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6455:Abcb5
|
UTSW |
12 |
118,854,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6609:Abcb5
|
UTSW |
12 |
118,892,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Abcb5
|
UTSW |
12 |
118,908,641 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6818:Abcb5
|
UTSW |
12 |
118,865,089 (GRCm39) |
splice site |
probably null |
|
|
R6870:Abcb5
|
UTSW |
12 |
118,929,000 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6944:Abcb5
|
UTSW |
12 |
118,875,265 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6957:Abcb5
|
UTSW |
12 |
118,871,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Abcb5
|
UTSW |
12 |
118,891,012 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7021:Abcb5
|
UTSW |
12 |
118,895,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7061:Abcb5
|
UTSW |
12 |
118,841,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Abcb5
|
UTSW |
12 |
118,831,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Abcb5
|
UTSW |
12 |
118,892,460 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7267:Abcb5
|
UTSW |
12 |
118,916,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Abcb5
|
UTSW |
12 |
118,875,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7396:Abcb5
|
UTSW |
12 |
118,831,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Abcb5
|
UTSW |
12 |
118,881,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Abcb5
|
UTSW |
12 |
118,875,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8177:Abcb5
|
UTSW |
12 |
118,836,525 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8296:Abcb5
|
UTSW |
12 |
118,838,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8544:Abcb5
|
UTSW |
12 |
118,832,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Abcb5
|
UTSW |
12 |
118,841,566 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8790:Abcb5
|
UTSW |
12 |
118,831,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9003:Abcb5
|
UTSW |
12 |
118,850,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9038:Abcb5
|
UTSW |
12 |
118,895,651 (GRCm39) |
missense |
probably benign |
|
|
R9410:Abcb5
|
UTSW |
12 |
118,869,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9497:Abcb5
|
UTSW |
12 |
118,899,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9666:Abcb5
|
UTSW |
12 |
118,838,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9682:Abcb5
|
UTSW |
12 |
118,896,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9756:Abcb5
|
UTSW |
12 |
118,881,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
V7580:Abcb5
|
UTSW |
12 |
118,849,914 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Abcb5
|
UTSW |
12 |
118,882,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTCTGGCACCTGATCTGAGC -3'
(R):5'- AGGGCCTGCATCATATCTCACCAC -3'
Sequencing Primer
(F):5'- CAAACAGATGCGAAGCTCCA -3'
(R):5'- AAAGGTTTCATGCTCACTGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation