Incidental Mutation 'R5566:Abcb5'
| ID |
436856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb5
|
| Ensembl Gene |
ENSMUSG00000072791 |
| Gene Name |
ATP-binding cassette, sub-family B member 5 |
| Synonyms |
9230106F14Rik |
| MMRRC Submission |
043123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
118831559-118930156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118899702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 322
(T322S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
| AlphaFold |
B5X0E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035515
AA Change: T322S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: T322S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,615 (GRCm39) |
Y2159* |
probably null |
Het |
| Abca3 |
A |
G |
17: 24,602,901 (GRCm39) |
T499A |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,078,419 (GRCm39) |
M1K |
probably null |
Het |
| Adamtsl4 |
C |
T |
3: 95,592,765 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
T |
3: 138,129,950 (GRCm39) |
I259F |
probably damaging |
Het |
| Aff3 |
G |
A |
1: 38,220,505 (GRCm39) |
S1135F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,370,105 (GRCm39) |
D280G |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,470,707 (GRCm39) |
E71G |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,879,332 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ccr5 |
A |
G |
9: 123,924,697 (GRCm39) |
N100S |
probably benign |
Het |
| Cep57 |
G |
T |
9: 13,732,871 (GRCm39) |
R25S |
probably damaging |
Het |
| Chadl |
A |
G |
15: 81,580,079 (GRCm39) |
L52P |
probably damaging |
Het |
| Clec12b |
T |
C |
6: 129,362,438 (GRCm39) |
T6A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,775,593 (GRCm39) |
N43Y |
probably damaging |
Het |
| Col20a1 |
A |
T |
2: 180,628,316 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,356,682 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,411,300 (GRCm39) |
|
probably null |
Het |
| Cyp39a1 |
T |
A |
17: 43,996,099 (GRCm39) |
W224R |
possibly damaging |
Het |
| Defb29 |
A |
T |
2: 152,380,848 (GRCm39) |
Y54N |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,708,003 (GRCm39) |
D1241V |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,996,323 (GRCm39) |
I2671K |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,407,395 (GRCm39) |
E158* |
probably null |
Het |
| Dynlt2b |
A |
G |
16: 32,238,718 (GRCm39) |
Y31C |
probably damaging |
Het |
| Edar |
A |
G |
10: 58,464,463 (GRCm39) |
S59P |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,596 (GRCm39) |
C339* |
probably null |
Het |
| Eif5b |
G |
A |
1: 38,084,765 (GRCm39) |
V871I |
possibly damaging |
Het |
| Eif5b |
G |
A |
1: 38,090,328 (GRCm39) |
G1169E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,810,531 (GRCm39) |
Y290C |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fkrp |
C |
T |
7: 16,544,849 (GRCm39) |
V338M |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,198,317 (GRCm39) |
T378A |
probably benign |
Het |
| Gm4924 |
C |
A |
10: 82,214,475 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Gm9847 |
A |
G |
12: 14,545,000 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,543,919 (GRCm39) |
F429S |
probably damaging |
Het |
| Gpr162 |
G |
A |
6: 124,837,901 (GRCm39) |
R250* |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,368 (GRCm39) |
D295E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,372,819 (GRCm39) |
M3125K |
possibly damaging |
Het |
| Hoxb6 |
T |
A |
11: 96,191,580 (GRCm39) |
Y167* |
probably null |
Het |
| Hrob |
T |
A |
11: 102,146,659 (GRCm39) |
S312T |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,006,419 (GRCm39) |
Y1443H |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,224,470 (GRCm39) |
D28G |
probably damaging |
Het |
| Impact |
T |
G |
18: 13,107,819 (GRCm39) |
V29G |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,334,926 (GRCm39) |
T2147A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,676,554 (GRCm39) |
L50Q |
probably damaging |
Het |
| Jade1 |
A |
G |
3: 41,559,338 (GRCm39) |
D473G |
possibly damaging |
Het |
| Kif26a |
T |
G |
12: 112,123,788 (GRCm39) |
L131R |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,130,432 (GRCm39) |
M1K |
probably null |
Het |
| Lrsam1 |
C |
A |
2: 32,831,870 (GRCm39) |
Q368H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,957 (GRCm39) |
Q4592R |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,986,465 (GRCm39) |
V893A |
probably damaging |
Het |
| Med13l |
G |
T |
5: 118,866,730 (GRCm39) |
V595F |
possibly damaging |
Het |
| Mocs1 |
T |
A |
17: 49,761,211 (GRCm39) |
L435Q |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,495,356 (GRCm39) |
L471P |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,714,023 (GRCm39) |
E1616G |
possibly damaging |
Het |
| Nacad |
T |
A |
11: 6,552,136 (GRCm39) |
S352C |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,095,767 (GRCm39) |
M817K |
possibly damaging |
Het |
| Ofcc1 |
C |
A |
13: 40,248,129 (GRCm39) |
L668F |
probably damaging |
Het |
| Or12j2 |
C |
A |
7: 139,915,980 (GRCm39) |
D68E |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,265 (GRCm39) |
Q309R |
probably benign |
Het |
| Or8j3c |
G |
A |
2: 86,253,721 (GRCm39) |
Q100* |
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,048,223 (GRCm39) |
T696A |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,569,609 (GRCm39) |
F58L |
probably benign |
Het |
| Prpf4 |
G |
T |
4: 62,334,206 (GRCm39) |
L220F |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
| Raet1e |
T |
C |
10: 22,050,304 (GRCm39) |
L29P |
probably damaging |
Het |
| Ralgapb |
A |
C |
2: 158,336,630 (GRCm39) |
T1089P |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,430,173 (GRCm39) |
E864G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,669,520 (GRCm39) |
I289F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,015,951 (GRCm39) |
Y406H |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,313,749 (GRCm39) |
I26T |
possibly damaging |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,415 (GRCm39) |
S485P |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,615,538 (GRCm39) |
V249E |
possibly damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,412,414 (GRCm39) |
T362I |
possibly damaging |
Het |
| Sos1 |
C |
T |
17: 80,761,319 (GRCm39) |
V126I |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,124,475 (GRCm39) |
F215S |
probably damaging |
Het |
| Supt4a |
T |
A |
11: 87,634,113 (GRCm39) |
S110T |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,138,015 (GRCm39) |
T232S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,732,041 (GRCm39) |
C1288R |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,191,356 (GRCm39) |
L100* |
probably null |
Het |
| Tgm1 |
C |
A |
14: 55,949,893 (GRCm39) |
R105L |
probably damaging |
Het |
| Tgoln1 |
G |
A |
6: 72,593,018 (GRCm39) |
T154I |
possibly damaging |
Het |
| Trp53i13 |
G |
A |
11: 77,399,552 (GRCm39) |
T259I |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,015,251 (GRCm39) |
F320I |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,936,443 (GRCm39) |
C817* |
probably null |
Het |
| Vmn1r21 |
A |
C |
6: 57,821,079 (GRCm39) |
Y122D |
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,407 (GRCm39) |
D46E |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,852,290 (GRCm39) |
L9M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,247 (GRCm39) |
I165T |
possibly damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,875,286 (GRCm39) |
Y564N |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 109,725,257 (GRCm39) |
E300* |
probably null |
Het |
| Xdh |
T |
C |
17: 74,200,617 (GRCm39) |
D1168G |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,653,706 (GRCm39) |
T67A |
probably damaging |
Het |
| Zfp941 |
G |
T |
7: 140,392,679 (GRCm39) |
H227N |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,192,373 (GRCm39) |
V399D |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,161,461 (GRCm39) |
E285G |
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 |
|
|
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 |
|
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'- CGTGAGAAGGTAATCATCCTTATTCAA -3'
(R):5'- GGTGTTTTGCTTTGTAAGGTATACAC -3'
Sequencing Primer
(F):5'- CCCTTGATCCTGTAAAGGCTAGATG -3'
(R):5'- GCTTTGTAAGGTATACACAGCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation