Incidental Mutation 'R2133:Abcb11'
ID |
233490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb11
|
Ensembl Gene |
ENSMUSG00000027048 |
Gene Name |
ATP-binding cassette, sub-family B member 11 |
Synonyms |
sister of P-glycoprotein, ABC16, PFIC2, Bsep, PGY4, Lith1 |
MMRRC Submission |
040136-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.732)
|
Stock # |
R2133 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69154227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 113
(V113E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
AlphaFold |
Q9QY30 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102709
AA Change: V113E
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099770 Gene: ENSMUSG00000027048 AA Change: V113E
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
62 |
373 |
1.3e-65 |
PFAM |
AAA
|
447 |
639 |
1.65e-17 |
SMART |
Pfam:ABC_membrane
|
755 |
1031 |
2.7e-55 |
PFAM |
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102710
AA Change: V113E
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099771 Gene: ENSMUSG00000027048 AA Change: V113E
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
62 |
371 |
1.7e-72 |
PFAM |
AAA
|
447 |
639 |
1.65e-17 |
SMART |
Pfam:ABC_membrane
|
755 |
1029 |
3.2e-59 |
PFAM |
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180142
AA Change: V113E
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137017 Gene: ENSMUSG00000027048 AA Change: V113E
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
62 |
371 |
1.4e-72 |
PFAM |
AAA
|
447 |
639 |
1.65e-17 |
SMART |
Pfam:ABC_membrane
|
755 |
1029 |
2.5e-59 |
PFAM |
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt transporter in humans and mice. Mutations in the human gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
Other mutations in this stock |
Total: 121 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,972 (GRCm39) |
K86E |
possibly damaging |
Het |
Acacb |
TGGGG |
TGGG |
5: 114,347,828 (GRCm39) |
|
probably null |
Het |
Adgrb1 |
T |
A |
15: 74,401,757 (GRCm39) |
L251Q |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
Apc |
C |
A |
18: 34,445,098 (GRCm39) |
Q665K |
possibly damaging |
Het |
Atp13a2 |
T |
A |
4: 140,732,327 (GRCm39) |
M864K |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,371,612 (GRCm39) |
T62A |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,501,093 (GRCm39) |
T937A |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,101,532 (GRCm39) |
G244D |
probably benign |
Het |
C2 |
G |
A |
17: 35,098,878 (GRCm39) |
T146M |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,602,502 (GRCm39) |
F1403L |
probably damaging |
Het |
Camk2b |
T |
C |
11: 5,927,880 (GRCm39) |
E390G |
probably benign |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Castor2 |
G |
A |
5: 134,164,992 (GRCm39) |
C187Y |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,889,951 (GRCm39) |
T447I |
probably benign |
Het |
Cep164 |
T |
C |
9: 45,714,481 (GRCm39) |
E182G |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,426,462 (GRCm39) |
T575A |
probably benign |
Het |
Cntnap2 |
T |
C |
6: 47,275,379 (GRCm39) |
L1277P |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,348,588 (GRCm39) |
S325R |
probably damaging |
Het |
Dbt |
T |
A |
3: 116,332,773 (GRCm39) |
D16E |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,060,812 (GRCm39) |
R768S |
probably benign |
Het |
Dis3 |
A |
T |
14: 99,317,313 (GRCm39) |
N710K |
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,576,946 (GRCm39) |
Q134L |
probably damaging |
Het |
Eif3i |
A |
T |
4: 129,490,719 (GRCm39) |
H18Q |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,452,465 (GRCm39) |
T250A |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 34,007,248 (GRCm39) |
T248A |
probably damaging |
Het |
Epm2a |
A |
G |
10: 11,219,426 (GRCm39) |
E71G |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,140,712 (GRCm39) |
V260D |
probably benign |
Het |
Etv4 |
A |
G |
11: 101,666,243 (GRCm39) |
I95T |
probably damaging |
Het |
Etv6 |
T |
C |
6: 134,225,717 (GRCm39) |
V316A |
possibly damaging |
Het |
Exoc4 |
T |
C |
6: 33,735,093 (GRCm39) |
V570A |
probably benign |
Het |
Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,568,042 (GRCm39) |
N34S |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,097,663 (GRCm39) |
H208R |
probably damaging |
Het |
Fgf17 |
T |
C |
14: 70,875,927 (GRCm39) |
R102G |
probably damaging |
Het |
Fhad1 |
G |
A |
4: 141,655,711 (GRCm39) |
R798C |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,246,136 (GRCm39) |
G431W |
probably damaging |
Het |
Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
Gm1587 |
A |
T |
14: 78,032,296 (GRCm39) |
C113* |
probably null |
Het |
Gm28040 |
AGTG |
AGTGGCACCTTTGGTG |
1: 133,255,059 (GRCm39) |
|
probably benign |
Het |
Golim4 |
A |
T |
3: 75,815,456 (GRCm39) |
V116D |
probably damaging |
Het |
Gpr132 |
A |
G |
12: 112,816,023 (GRCm39) |
S268P |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
Guca2b |
T |
C |
4: 119,514,828 (GRCm39) |
R78G |
probably benign |
Het |
Helz |
T |
A |
11: 107,561,310 (GRCm39) |
N775K |
unknown |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
Insrr |
G |
A |
3: 87,717,879 (GRCm39) |
|
probably null |
Het |
Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
TCC |
TCCACC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
Irak3 |
A |
G |
10: 120,001,082 (GRCm39) |
I281T |
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
Khsrp |
A |
T |
17: 57,334,832 (GRCm39) |
I138N |
probably benign |
Het |
Larp1b |
T |
C |
3: 40,924,970 (GRCm39) |
M149T |
possibly damaging |
Het |
Ldhc |
A |
T |
7: 46,519,023 (GRCm39) |
D82V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,361,167 (GRCm39) |
Y400C |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,711,956 (GRCm39) |
I34F |
probably benign |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Mamld1 |
C |
A |
X: 70,162,998 (GRCm39) |
Q670K |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,141,256 (GRCm39) |
D402E |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,305,970 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
A |
11: 3,630,302 (GRCm39) |
C499* |
probably null |
Het |
Mpp2 |
G |
A |
11: 101,955,421 (GRCm39) |
R110C |
probably benign |
Het |
Msra |
T |
A |
14: 64,471,377 (GRCm39) |
T47S |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,047,891 (GRCm39) |
V47A |
probably benign |
Het |
Olfml3 |
T |
A |
3: 103,643,185 (GRCm39) |
M399L |
probably benign |
Het |
Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
Or4a72 |
G |
A |
2: 89,405,600 (GRCm39) |
Q157* |
probably null |
Het |
Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
Pcdhb14 |
C |
A |
18: 37,580,923 (GRCm39) |
Q10K |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,379,581 (GRCm39) |
I1069T |
possibly damaging |
Het |
Plcb1 |
T |
A |
2: 135,167,587 (GRCm39) |
Y460* |
probably null |
Het |
Plekha6 |
C |
A |
1: 133,207,103 (GRCm39) |
|
probably null |
Het |
Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,211,637 (GRCm38) |
I198N |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,430 (GRCm39) |
C947* |
probably null |
Het |
Rc3h2 |
A |
T |
2: 37,268,928 (GRCm39) |
I846K |
probably benign |
Het |
Ren1 |
C |
A |
1: 133,286,720 (GRCm39) |
|
probably null |
Het |
Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,249,520 (GRCm39) |
V232A |
possibly damaging |
Het |
Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
Ror1 |
A |
G |
4: 100,267,222 (GRCm39) |
N308D |
probably benign |
Het |
Rrp1 |
T |
C |
10: 78,237,728 (GRCm39) |
|
probably benign |
Het |
Rsph6a |
T |
A |
7: 18,802,031 (GRCm39) |
V360E |
probably damaging |
Het |
Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
Slc41a3 |
C |
T |
6: 90,603,363 (GRCm39) |
A128V |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,152,918 (GRCm39) |
F112S |
probably damaging |
Het |
Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
Sort1 |
T |
A |
3: 108,259,002 (GRCm39) |
F678Y |
probably benign |
Het |
Spidr |
G |
A |
16: 15,871,137 (GRCm39) |
L278F |
probably benign |
Het |
Stard13 |
T |
C |
5: 150,968,633 (GRCm39) |
Y879C |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,735,967 (GRCm39) |
N421D |
probably damaging |
Het |
Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
Tacc1 |
A |
T |
8: 25,654,509 (GRCm39) |
N271K |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,198,571 (GRCm39) |
N1301S |
possibly damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
Tmem132a |
C |
A |
19: 10,841,430 (GRCm39) |
R298L |
probably benign |
Het |
Trabd2b |
A |
T |
4: 114,467,205 (GRCm39) |
Q478L |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,796,597 (GRCm39) |
S312T |
probably benign |
Het |
Ttc9b |
T |
A |
7: 27,353,774 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,680,956 (GRCm39) |
Q1044* |
probably null |
Het |
Ugt2b34 |
C |
T |
5: 87,054,416 (GRCm39) |
D122N |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,809,750 (GRCm39) |
H9R |
possibly damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,474,392 (GRCm39) |
L548Q |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
Zfp521 |
G |
A |
18: 13,977,762 (GRCm39) |
P884S |
possibly damaging |
Het |
Zfp64 |
A |
G |
2: 168,782,663 (GRCm39) |
Y146H |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
Zswim6 |
T |
A |
13: 107,880,522 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Abcb11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00544:Abcb11
|
APN |
2 |
69,115,025 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01407:Abcb11
|
APN |
2 |
69,076,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Abcb11
|
APN |
2 |
69,126,753 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01813:Abcb11
|
APN |
2 |
69,117,936 (GRCm39) |
splice site |
probably benign |
|
IGL01885:Abcb11
|
APN |
2 |
69,117,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01937:Abcb11
|
APN |
2 |
69,117,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Abcb11
|
APN |
2 |
69,073,842 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02117:Abcb11
|
APN |
2 |
69,154,169 (GRCm39) |
splice site |
probably benign |
|
IGL02119:Abcb11
|
APN |
2 |
69,158,344 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02120:Abcb11
|
APN |
2 |
69,087,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02158:Abcb11
|
APN |
2 |
69,130,269 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02212:Abcb11
|
APN |
2 |
69,079,233 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02306:Abcb11
|
APN |
2 |
69,095,801 (GRCm39) |
nonsense |
probably null |
|
IGL02505:Abcb11
|
APN |
2 |
69,076,105 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02538:Abcb11
|
APN |
2 |
69,136,949 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02793:Abcb11
|
APN |
2 |
69,122,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02863:Abcb11
|
APN |
2 |
69,115,026 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02875:Abcb11
|
APN |
2 |
69,122,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03164:Abcb11
|
APN |
2 |
69,122,343 (GRCm39) |
nonsense |
probably null |
|
IGL03181:Abcb11
|
APN |
2 |
69,158,352 (GRCm39) |
intron |
probably benign |
|
3-1:Abcb11
|
UTSW |
2 |
69,158,337 (GRCm39) |
missense |
probably benign |
0.00 |
FR4737:Abcb11
|
UTSW |
2 |
69,073,862 (GRCm39) |
missense |
probably damaging |
0.97 |
R0031:Abcb11
|
UTSW |
2 |
69,115,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Abcb11
|
UTSW |
2 |
69,117,010 (GRCm39) |
missense |
probably null |
0.82 |
R0413:Abcb11
|
UTSW |
2 |
69,158,355 (GRCm39) |
intron |
probably benign |
|
R0437:Abcb11
|
UTSW |
2 |
69,087,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R0496:Abcb11
|
UTSW |
2 |
69,108,228 (GRCm39) |
splice site |
probably benign |
|
R0646:Abcb11
|
UTSW |
2 |
69,115,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R0669:Abcb11
|
UTSW |
2 |
69,159,662 (GRCm39) |
missense |
probably benign |
0.15 |
R0856:Abcb11
|
UTSW |
2 |
69,154,262 (GRCm39) |
missense |
probably benign |
|
R1061:Abcb11
|
UTSW |
2 |
69,108,153 (GRCm39) |
missense |
probably benign |
0.00 |
R1460:Abcb11
|
UTSW |
2 |
69,087,718 (GRCm39) |
splice site |
probably benign |
|
R1714:Abcb11
|
UTSW |
2 |
69,136,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R1739:Abcb11
|
UTSW |
2 |
69,091,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:Abcb11
|
UTSW |
2 |
69,076,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Abcb11
|
UTSW |
2 |
69,113,014 (GRCm39) |
splice site |
probably null |
|
R2086:Abcb11
|
UTSW |
2 |
69,089,820 (GRCm39) |
splice site |
probably benign |
|
R2516:Abcb11
|
UTSW |
2 |
69,159,673 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2930:Abcb11
|
UTSW |
2 |
69,087,702 (GRCm39) |
missense |
probably damaging |
0.96 |
R3771:Abcb11
|
UTSW |
2 |
69,159,720 (GRCm39) |
splice site |
probably benign |
|
R3772:Abcb11
|
UTSW |
2 |
69,159,720 (GRCm39) |
splice site |
probably benign |
|
R3979:Abcb11
|
UTSW |
2 |
69,154,320 (GRCm39) |
missense |
probably benign |
0.11 |
R4227:Abcb11
|
UTSW |
2 |
69,115,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4255:Abcb11
|
UTSW |
2 |
69,136,949 (GRCm39) |
missense |
probably benign |
0.03 |
R4614:Abcb11
|
UTSW |
2 |
69,115,025 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4647:Abcb11
|
UTSW |
2 |
69,115,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R4719:Abcb11
|
UTSW |
2 |
69,089,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Abcb11
|
UTSW |
2 |
69,154,306 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4765:Abcb11
|
UTSW |
2 |
69,076,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4861:Abcb11
|
UTSW |
2 |
69,076,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R4861:Abcb11
|
UTSW |
2 |
69,076,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Abcb11
|
UTSW |
2 |
69,069,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R4988:Abcb11
|
UTSW |
2 |
69,154,236 (GRCm39) |
missense |
probably benign |
0.12 |
R5028:Abcb11
|
UTSW |
2 |
69,104,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R5048:Abcb11
|
UTSW |
2 |
69,138,850 (GRCm39) |
missense |
probably benign |
0.06 |
R5177:Abcb11
|
UTSW |
2 |
69,115,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Abcb11
|
UTSW |
2 |
69,117,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R5789:Abcb11
|
UTSW |
2 |
69,076,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R5892:Abcb11
|
UTSW |
2 |
69,091,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R6003:Abcb11
|
UTSW |
2 |
69,073,811 (GRCm39) |
missense |
probably benign |
0.43 |
R6252:Abcb11
|
UTSW |
2 |
69,122,305 (GRCm39) |
missense |
probably benign |
0.10 |
R6389:Abcb11
|
UTSW |
2 |
69,154,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R6512:Abcb11
|
UTSW |
2 |
69,112,996 (GRCm39) |
missense |
probably benign |
|
R6590:Abcb11
|
UTSW |
2 |
69,115,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R6690:Abcb11
|
UTSW |
2 |
69,115,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Abcb11
|
UTSW |
2 |
69,117,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Abcb11
|
UTSW |
2 |
69,115,642 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7028:Abcb11
|
UTSW |
2 |
69,096,019 (GRCm39) |
missense |
probably benign |
|
R7223:Abcb11
|
UTSW |
2 |
69,104,487 (GRCm39) |
missense |
probably benign |
|
R7323:Abcb11
|
UTSW |
2 |
69,117,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R7337:Abcb11
|
UTSW |
2 |
69,076,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7340:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7341:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7343:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7366:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7393:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7394:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7405:Abcb11
|
UTSW |
2 |
69,117,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7411:Abcb11
|
UTSW |
2 |
69,134,280 (GRCm39) |
critical splice donor site |
probably null |
|
R7488:Abcb11
|
UTSW |
2 |
69,108,146 (GRCm39) |
missense |
probably benign |
|
R7544:Abcb11
|
UTSW |
2 |
69,095,830 (GRCm39) |
missense |
probably benign |
0.05 |
R7660:Abcb11
|
UTSW |
2 |
69,117,938 (GRCm39) |
splice site |
probably null |
|
R7754:Abcb11
|
UTSW |
2 |
69,117,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Abcb11
|
UTSW |
2 |
69,069,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R7794:Abcb11
|
UTSW |
2 |
69,117,022 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7834:Abcb11
|
UTSW |
2 |
69,115,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Abcb11
|
UTSW |
2 |
69,154,217 (GRCm39) |
small deletion |
probably benign |
|
R7897:Abcb11
|
UTSW |
2 |
69,154,216 (GRCm39) |
frame shift |
probably null |
|
R7937:Abcb11
|
UTSW |
2 |
69,154,217 (GRCm39) |
small deletion |
probably benign |
|
R8004:Abcb11
|
UTSW |
2 |
69,087,554 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8089:Abcb11
|
UTSW |
2 |
69,104,383 (GRCm39) |
missense |
probably benign |
0.09 |
R8279:Abcb11
|
UTSW |
2 |
69,069,549 (GRCm39) |
missense |
probably benign |
0.05 |
R8426:Abcb11
|
UTSW |
2 |
69,155,606 (GRCm39) |
missense |
probably benign |
|
R8441:Abcb11
|
UTSW |
2 |
69,087,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8460:Abcb11
|
UTSW |
2 |
69,154,381 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8462:Abcb11
|
UTSW |
2 |
69,104,499 (GRCm39) |
missense |
probably benign |
|
R8532:Abcb11
|
UTSW |
2 |
69,090,035 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8534:Abcb11
|
UTSW |
2 |
69,154,190 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8711:Abcb11
|
UTSW |
2 |
69,095,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R8746:Abcb11
|
UTSW |
2 |
69,087,754 (GRCm39) |
intron |
probably benign |
|
R8964:Abcb11
|
UTSW |
2 |
69,117,061 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8990:Abcb11
|
UTSW |
2 |
69,104,494 (GRCm39) |
missense |
|
|
R9081:Abcb11
|
UTSW |
2 |
69,122,388 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9093:Abcb11
|
UTSW |
2 |
69,069,513 (GRCm39) |
missense |
probably damaging |
0.97 |
R9228:Abcb11
|
UTSW |
2 |
69,138,809 (GRCm39) |
nonsense |
probably null |
|
R9294:Abcb11
|
UTSW |
2 |
69,095,840 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0058:Abcb11
|
UTSW |
2 |
69,119,787 (GRCm39) |
missense |
probably benign |
0.12 |
X0062:Abcb11
|
UTSW |
2 |
69,076,250 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Abcb11
|
UTSW |
2 |
69,130,210 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Abcb11
|
UTSW |
2 |
69,122,325 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcb11
|
UTSW |
2 |
69,159,613 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Abcb11
|
UTSW |
2 |
69,136,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTTGAAACCTGGAAGGATGG -3'
(R):5'- TCATCAAAAGACAACTGGCTGATG -3'
Sequencing Primer
(F):5'- CCTGGAAGGATGGAAATAGCTAC -3'
(R):5'- AAGACAACTGGCTGATGTTTATGG -3'
|
Posted On |
2014-10-01 |