Incidental Mutation 'R1836:Abcb5'
| ID |
205321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb5
|
| Ensembl Gene |
ENSMUSG00000072791 |
| Gene Name |
ATP-binding cassette, sub-family B member 5 |
| Synonyms |
9230106F14Rik |
| MMRRC Submission |
039863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R1836 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
118831559-118930156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118831696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1219
(Q1219K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
| AlphaFold |
B5X0E4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035515
AA Change: Q1219K
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: Q1219K
| 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 |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,493 (GRCm39) |
E966G |
probably benign |
Het |
| 9330159F19Rik |
T |
C |
10: 29,097,795 (GRCm39) |
V64A |
probably damaging |
Het |
| Acox2 |
A |
T |
14: 8,248,059 (GRCm38) |
C408S |
possibly damaging |
Het |
| Acsf3 |
T |
A |
8: 123,506,922 (GRCm39) |
Y72N |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,886,870 (GRCm39) |
E48G |
possibly damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,652,232 (GRCm39) |
M2957R |
probably benign |
Het |
| Adi1 |
C |
A |
12: 28,729,562 (GRCm39) |
D138E |
probably benign |
Het |
| Alk |
A |
C |
17: 72,198,032 (GRCm39) |
L1228R |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,655,485 (GRCm39) |
S3344T |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
| Arhgef2 |
C |
T |
3: 88,546,766 (GRCm39) |
T545I |
probably damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,243,815 (GRCm39) |
N630I |
possibly damaging |
Het |
| Bcl9 |
G |
T |
3: 97,113,186 (GRCm39) |
Q1090K |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,171,653 (GRCm39) |
S2152P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,921,385 (GRCm39) |
S2155T |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,384 (GRCm39) |
E488G |
probably damaging |
Het |
| Capn9 |
T |
A |
8: 125,332,304 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,154,491 (GRCm39) |
S119P |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,946,533 (GRCm39) |
E433G |
probably damaging |
Het |
| Chid1 |
G |
T |
7: 141,106,409 (GRCm39) |
|
probably null |
Het |
| Cldnd2 |
T |
C |
7: 43,092,349 (GRCm39) |
S129P |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,956,580 (GRCm39) |
F289Y |
probably damaging |
Het |
| Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
| Creb3l4 |
G |
T |
3: 90,146,210 (GRCm39) |
S182Y |
probably benign |
Het |
| Dgcr2 |
A |
T |
16: 17,667,584 (GRCm39) |
C292S |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 66,009,667 (GRCm39) |
M740K |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,829,542 (GRCm39) |
T687I |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,685,312 (GRCm39) |
R601W |
probably damaging |
Het |
| Echdc2 |
C |
A |
4: 108,022,732 (GRCm39) |
R3S |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,852,920 (GRCm39) |
L1275Q |
unknown |
Het |
| Epha6 |
A |
T |
16: 60,026,108 (GRCm39) |
W445R |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,220,035 (GRCm39) |
S1102R |
probably benign |
Het |
| Fam228a |
T |
G |
12: 4,765,620 (GRCm39) |
T264P |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,897,315 (GRCm39) |
I488N |
probably damaging |
Het |
| Gabrg3 |
T |
G |
7: 56,379,389 (GRCm39) |
N338H |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,294,357 (GRCm39) |
F39L |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm4781 |
T |
A |
10: 100,232,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4846 |
T |
A |
1: 166,311,492 (GRCm39) |
T456S |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,471,624 (GRCm39) |
I193T |
probably benign |
Het |
| H3c2 |
T |
A |
13: 23,936,715 (GRCm39) |
V118D |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,804,853 (GRCm39) |
K2294* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,015,675 (GRCm39) |
V19D |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,254,441 (GRCm39) |
I1006V |
probably damaging |
Het |
| Lamb1 |
C |
T |
12: 31,351,093 (GRCm39) |
T781I |
probably benign |
Het |
| Lias |
A |
G |
5: 65,549,686 (GRCm39) |
T57A |
probably benign |
Het |
| Lin37 |
C |
A |
7: 30,256,368 (GRCm39) |
R108L |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,915,709 (GRCm39) |
T769S |
probably benign |
Het |
| Mamstr |
T |
C |
7: 45,294,387 (GRCm39) |
W414R |
probably damaging |
Het |
| Mtmr11 |
T |
G |
3: 96,072,103 (GRCm39) |
S233R |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,095,648 (GRCm39) |
I266F |
probably damaging |
Het |
| Myt1 |
C |
A |
2: 181,439,068 (GRCm39) |
Q197K |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,195 (GRCm39) |
T1140K |
probably benign |
Het |
| Ncf2 |
G |
A |
1: 152,683,822 (GRCm39) |
V14M |
probably damaging |
Het |
| Ndufb11b |
T |
C |
15: 81,865,068 (GRCm39) |
V103A |
probably damaging |
Het |
| Nhsl1 |
G |
T |
10: 18,400,653 (GRCm39) |
R626S |
possibly damaging |
Het |
| Nol12 |
T |
A |
15: 78,822,089 (GRCm39) |
V108E |
probably damaging |
Het |
| Nr1i2 |
G |
T |
16: 38,069,644 (GRCm39) |
P420Q |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,184,464 (GRCm39) |
I1286M |
possibly damaging |
Het |
| Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
| Or4c10b |
A |
C |
2: 89,711,629 (GRCm39) |
H153P |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,592 (GRCm39) |
S117P |
probably damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,244,749 (GRCm39) |
V158A |
probably benign |
Het |
| Pard3b |
C |
T |
1: 62,676,763 (GRCm39) |
S999L |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,746,839 (GRCm39) |
E225G |
probably benign |
Het |
| Pdcd4 |
T |
G |
19: 53,914,650 (GRCm39) |
L335R |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,343,675 (GRCm39) |
M732K |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,187,293 (GRCm39) |
Q3672K |
probably benign |
Het |
| Pold2 |
A |
G |
11: 5,823,454 (GRCm39) |
L325P |
possibly damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,167,954 (GRCm39) |
T742S |
probably benign |
Het |
| Ppfia1 |
C |
T |
7: 144,073,368 (GRCm39) |
E208K |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,207,004 (GRCm39) |
R521W |
probably damaging |
Het |
| Prr23a4 |
C |
A |
9: 98,785,535 (GRCm39) |
R67S |
probably benign |
Het |
| Rhpn2 |
T |
C |
7: 35,071,813 (GRCm39) |
L226P |
probably benign |
Het |
| Rps12 |
C |
A |
10: 23,661,527 (GRCm39) |
D95Y |
probably damaging |
Het |
| Sardh |
T |
A |
2: 27,105,194 (GRCm39) |
D643V |
possibly damaging |
Het |
| Sars1 |
T |
C |
3: 108,343,260 (GRCm39) |
D77G |
probably benign |
Het |
| Scin |
C |
A |
12: 40,174,697 (GRCm39) |
V129F |
probably damaging |
Het |
| Semp2l1 |
T |
G |
1: 32,584,758 (GRCm39) |
D384A |
probably damaging |
Het |
| Sftpa1 |
T |
A |
14: 40,854,803 (GRCm39) |
M66K |
possibly damaging |
Het |
| Sgo1 |
T |
C |
17: 53,994,799 (GRCm39) |
K28E |
probably damaging |
Het |
| Sim2 |
G |
T |
16: 93,924,436 (GRCm39) |
|
probably null |
Het |
| Srp54b |
T |
A |
12: 55,296,945 (GRCm39) |
|
probably null |
Het |
| Stard7 |
T |
C |
2: 127,137,480 (GRCm39) |
V310A |
probably benign |
Het |
| Tasp1 |
T |
C |
2: 139,793,477 (GRCm39) |
D233G |
probably damaging |
Het |
| Tdrd6 |
G |
T |
17: 43,936,480 (GRCm39) |
L1523M |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,321,305 (GRCm39) |
D639G |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,417,750 (GRCm39) |
D2G |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,605,246 (GRCm39) |
S41P |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,559,505 (GRCm39) |
S29632N |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,192,754 (GRCm39) |
S287P |
probably benign |
Het |
| Ubn1 |
G |
C |
16: 4,895,255 (GRCm39) |
G767A |
probably benign |
Het |
| Ugdh |
A |
T |
5: 65,577,634 (GRCm39) |
C288* |
probably null |
Het |
| Upf2 |
T |
A |
2: 6,055,135 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,836 (GRCm39) |
S252P |
probably damaging |
Het |
| Vmn1r28 |
A |
C |
6: 58,242,237 (GRCm39) |
T27P |
probably damaging |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,338 (GRCm39) |
I38T |
probably benign |
Het |
| Vmn2r51 |
C |
A |
7: 9,832,090 (GRCm39) |
E499* |
probably null |
Het |
| Vmn2r51 |
G |
T |
7: 9,832,091 (GRCm39) |
Y498* |
probably null |
Het |
| Vmn2r53 |
A |
T |
7: 12,334,812 (GRCm39) |
W283R |
probably damaging |
Het |
| Vpreb1a |
T |
A |
16: 16,686,933 (GRCm39) |
T15S |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,910,378 (GRCm39) |
S3381P |
probably damaging |
Het |
| Wnt2 |
A |
T |
6: 18,023,234 (GRCm39) |
D138E |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,204 (GRCm39) |
V248A |
probably benign |
Het |
| Zfp30 |
T |
A |
7: 29,492,805 (GRCm39) |
I434N |
probably damaging |
Het |
| Zfp316 |
A |
G |
5: 143,239,178 (GRCm39) |
L947P |
probably damaging |
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 |
|
R0433:Abcb5
|
UTSW |
12 |
118,841,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
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'- TGGACTCTTCATTAGACCAAGATCC -3'
(R):5'- TCCCCATTTCTATCTGGCAGAG -3'
Sequencing Primer
(F):5'- AAGATCCAAGCCCATGTAAGG -3'
(R):5'- TTGATAAAGCCCGGAGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation