Incidental Mutation 'R5327:Abcb5'
| ID |
422071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb5
|
| Ensembl Gene |
ENSMUSG00000072791 |
| Gene Name |
ATP-binding cassette, sub-family B member 5 |
| Synonyms |
9230106F14Rik |
| MMRRC Submission |
042910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R5327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
118831559-118930156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118875278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 631
(E631D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
| AlphaFold |
B5X0E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035515
AA Change: E631D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: E631D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100982
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (101/101) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,740 (GRCm39) |
S36G |
probably damaging |
Het |
| Aarsd1 |
T |
C |
11: 101,301,203 (GRCm39) |
N280D |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,335,686 (GRCm39) |
M2099K |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,415,149 (GRCm39) |
L682Q |
probably null |
Het |
| Adamts14 |
G |
A |
10: 61,034,267 (GRCm39) |
P1207L |
probably benign |
Het |
| Adora1 |
G |
A |
1: 134,130,748 (GRCm39) |
R308* |
probably null |
Het |
| Arcn1 |
A |
T |
9: 44,668,444 (GRCm39) |
V264E |
probably benign |
Het |
| B3galt1 |
G |
A |
2: 67,949,112 (GRCm39) |
G276S |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,179 (GRCm39) |
M453K |
possibly damaging |
Het |
| Bnip3l |
T |
C |
14: 67,225,180 (GRCm39) |
Y218C |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,805 (GRCm39) |
E379G |
probably null |
Het |
| Cacng6 |
G |
A |
7: 3,483,376 (GRCm39) |
G235R |
probably damaging |
Het |
| Capn8 |
A |
T |
1: 182,456,169 (GRCm39) |
T640S |
probably benign |
Het |
| Ccdc106 |
T |
C |
7: 5,063,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
A |
T |
9: 57,993,860 (GRCm39) |
N95K |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,719,907 (GRCm39) |
|
probably benign |
Het |
| Cemip |
A |
T |
7: 83,604,509 (GRCm39) |
N844K |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,677,948 (GRCm39) |
T284S |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,154,090 (GRCm39) |
Y279C |
probably damaging |
Het |
| Clvs1 |
A |
T |
4: 9,424,261 (GRCm39) |
I236F |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,234,620 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
C |
8: 17,266,728 (GRCm39) |
E66G |
possibly damaging |
Het |
| Ctdsp2 |
A |
G |
10: 126,831,923 (GRCm39) |
D26G |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,946,721 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
A |
T |
15: 82,439,423 (GRCm39) |
M26L |
probably benign |
Het |
| Cyp8b1 |
C |
T |
9: 121,743,950 (GRCm39) |
D461N |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,322,220 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,704,728 (GRCm39) |
D2247G |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,400,994 (GRCm39) |
I166V |
possibly damaging |
Het |
| Duoxa1 |
T |
A |
2: 122,134,361 (GRCm39) |
E252D |
probably damaging |
Het |
| Ezr |
T |
A |
17: 7,020,448 (GRCm39) |
K211M |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fahd2a |
T |
C |
2: 127,283,878 (GRCm39) |
D54G |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 78,003,146 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
G |
17: 7,991,540 (GRCm39) |
S719P |
unknown |
Het |
| Gas7 |
G |
T |
11: 67,552,916 (GRCm39) |
G159C |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,574,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,723,092 (GRCm39) |
S78A |
probably damaging |
Het |
| Gtpbp6 |
A |
G |
5: 110,254,770 (GRCm39) |
F101S |
probably damaging |
Het |
| Gzme |
G |
A |
14: 56,355,224 (GRCm39) |
H236Y |
probably benign |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Hmbox1 |
G |
A |
14: 65,134,144 (GRCm39) |
S152L |
possibly damaging |
Het |
| Ibtk |
A |
G |
9: 85,619,519 (GRCm39) |
|
probably null |
Het |
| Jade1 |
T |
C |
3: 41,568,413 (GRCm39) |
I827T |
possibly damaging |
Het |
| Jakmip3 |
A |
T |
7: 138,627,164 (GRCm39) |
E389D |
possibly damaging |
Het |
| Klhdc8b |
A |
T |
9: 108,326,241 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,942 (GRCm39) |
T1589A |
probably benign |
Het |
| Lbx2 |
A |
C |
6: 83,064,784 (GRCm39) |
K107T |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,503,522 (GRCm39) |
M259V |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,620 (GRCm39) |
K344R |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,935 (GRCm39) |
E245V |
probably damaging |
Het |
| Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
T |
A |
16: 21,740,397 (GRCm39) |
S575T |
possibly damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,280,833 (GRCm39) |
I74F |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,439,013 (GRCm39) |
V157D |
probably damaging |
Het |
| Mrpl21 |
A |
T |
19: 3,337,009 (GRCm39) |
|
probably null |
Het |
| Nagpa |
T |
C |
16: 5,017,877 (GRCm39) |
T99A |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,163,250 (GRCm39) |
I469F |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,169,756 (GRCm39) |
E171G |
possibly damaging |
Het |
| Oas1e |
A |
G |
5: 120,930,006 (GRCm39) |
Y171H |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,406,043 (GRCm39) |
V205D |
probably damaging |
Het |
| Or2y1f |
T |
C |
11: 49,184,493 (GRCm39) |
L115P |
probably damaging |
Het |
| Or5ac23 |
T |
C |
16: 59,149,461 (GRCm39) |
K137R |
probably benign |
Het |
| Or5h26 |
T |
C |
16: 58,987,983 (GRCm39) |
I174M |
possibly damaging |
Het |
| Otud7b |
C |
A |
3: 96,063,055 (GRCm39) |
Q765K |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,017,216 (GRCm39) |
V851A |
probably benign |
Het |
| Pi4ka |
T |
G |
16: 17,143,277 (GRCm39) |
K794T |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,258 (GRCm39) |
N2588K |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,186,837 (GRCm39) |
M471K |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,077,759 (GRCm39) |
H74R |
possibly damaging |
Het |
| Prf1 |
T |
A |
10: 61,136,037 (GRCm39) |
N104K |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,093,586 (GRCm39) |
I358N |
probably damaging |
Het |
| Rcsd1 |
A |
G |
1: 165,482,872 (GRCm39) |
|
probably null |
Het |
| Rev1 |
G |
A |
1: 38,147,532 (GRCm39) |
R3* |
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,583 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
G |
A |
19: 41,881,035 (GRCm39) |
T132I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,649,357 (GRCm39) |
V702A |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,884,174 (GRCm39) |
N307D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,383 (GRCm39) |
L103P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,765 (GRCm39) |
C413R |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,883,793 (GRCm39) |
Q255* |
probably null |
Het |
| Synpo |
T |
A |
18: 60,736,918 (GRCm39) |
I343F |
possibly damaging |
Het |
| Tcirg1 |
A |
G |
19: 3,952,342 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,816 (GRCm39) |
T996A |
possibly damaging |
Het |
| Trim10 |
A |
G |
17: 37,181,081 (GRCm39) |
E104G |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,524 (GRCm39) |
|
probably null |
Het |
| Tspo2 |
A |
T |
17: 48,756,887 (GRCm39) |
|
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,479,174 (GRCm39) |
I258N |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,418,846 (GRCm39) |
L2998P |
probably damaging |
Het |
| Vmn1r45 |
A |
C |
6: 89,910,123 (GRCm39) |
D162E |
possibly damaging |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,848 (GRCm39) |
Y186* |
probably null |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,698 (GRCm39) |
F769S |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,942 (GRCm39) |
I514V |
probably benign |
Het |
| Zfp329 |
A |
C |
7: 12,545,421 (GRCm39) |
D34E |
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 |
|
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 |
|
|
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 |
|
|
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'- ACGCTTTGTGAACTTAGTGGC -3'
(R):5'- ACATCCTCACCTTCCAACTG -3'
Sequencing Primer
(F):5'- GTGAACTTAGTGGCACTGTTC -3'
(R):5'- AGTGCAGTCCACCATGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation