Incidental Mutation 'R0646:Abcb11'
ID |
57116 |
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 |
038831-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.732)
|
Stock # |
R0646 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69115627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 579
(I579T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
AlphaFold |
Q9QY30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102709
AA Change: I579T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099770 Gene: ENSMUSG00000027048 AA Change: I579T
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 |
probably damaging
Transcript: ENSMUST00000102710
AA Change: I579T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099771 Gene: ENSMUSG00000027048 AA Change: I579T
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 |
probably damaging
Transcript: ENSMUST00000180142
AA Change: I579T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137017 Gene: ENSMUSG00000027048 AA Change: I579T
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 |
|
Meta Mutation Damage Score |
0.7749 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (123/130) |
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: 125 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
T |
7: 29,260,710 (GRCm39) |
|
noncoding transcript |
Het |
Abcc9 |
T |
C |
6: 142,627,830 (GRCm39) |
N400S |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,781,855 (GRCm39) |
L577P |
probably damaging |
Het |
Agt |
A |
C |
8: 125,283,852 (GRCm39) |
N422K |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,766 (GRCm39) |
K4017* |
probably null |
Het |
Akap13 |
C |
A |
7: 75,397,494 (GRCm39) |
Q2575K |
probably damaging |
Het |
Aldh3a2 |
A |
T |
11: 61,144,541 (GRCm39) |
I339K |
probably damaging |
Het |
Alox15 |
G |
T |
11: 70,236,450 (GRCm39) |
Y483* |
probably null |
Het |
Ampd1 |
A |
T |
3: 103,006,913 (GRCm39) |
I713F |
probably damaging |
Het |
Amph |
A |
T |
13: 19,297,286 (GRCm39) |
E344V |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,932,807 (GRCm39) |
S1032P |
probably damaging |
Het |
Armc8 |
C |
A |
9: 99,387,741 (GRCm39) |
L393F |
probably damaging |
Het |
Bpnt1 |
A |
G |
1: 185,077,623 (GRCm39) |
|
probably null |
Het |
Cachd1 |
G |
A |
4: 100,845,418 (GRCm39) |
R970H |
probably damaging |
Het |
Cd207 |
T |
C |
6: 83,652,738 (GRCm39) |
T131A |
probably benign |
Het |
Cd83 |
G |
A |
13: 43,951,009 (GRCm39) |
V54I |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,752,115 (GRCm39) |
K1086E |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,941,328 (GRCm39) |
V1837E |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,123,917 (GRCm39) |
H89L |
probably benign |
Het |
Cnga4 |
T |
C |
7: 105,054,182 (GRCm39) |
I50T |
possibly damaging |
Het |
Cog5 |
A |
G |
12: 31,887,358 (GRCm39) |
|
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,278,322 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
G |
6: 8,175,291 (GRCm39) |
I186L |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,481,252 (GRCm39) |
M808K |
probably benign |
Het |
Copb2 |
A |
G |
9: 98,445,528 (GRCm39) |
|
probably benign |
Het |
Dbnl |
G |
A |
11: 5,745,441 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,552,493 (GRCm39) |
T51A |
possibly damaging |
Het |
Dcp1a |
A |
T |
14: 30,224,842 (GRCm39) |
M123L |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,123,659 (GRCm39) |
F217I |
probably benign |
Het |
Dlc1 |
T |
C |
8: 37,325,205 (GRCm39) |
T367A |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,888,863 (GRCm39) |
T834S |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,903,147 (GRCm39) |
S929P |
probably damaging |
Het |
Dnase1l2 |
C |
A |
17: 24,660,056 (GRCm39) |
V271L |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,229,114 (GRCm39) |
Y392C |
probably damaging |
Het |
Edn1 |
T |
C |
13: 42,458,718 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,611,327 (GRCm39) |
D390N |
probably benign |
Het |
Eps8l3 |
T |
C |
3: 107,792,126 (GRCm39) |
L351P |
probably damaging |
Het |
F12 |
G |
A |
13: 55,570,296 (GRCm39) |
|
probably benign |
Het |
Fam47e |
T |
C |
5: 92,726,317 (GRCm39) |
|
probably benign |
Het |
Fcrl5 |
C |
A |
3: 87,349,320 (GRCm39) |
Q32K |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,960,505 (GRCm39) |
V1637I |
possibly damaging |
Het |
Foxg1 |
G |
T |
12: 49,431,350 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
Galnt5 |
A |
T |
2: 57,889,097 (GRCm39) |
K232N |
probably benign |
Het |
Ggt5 |
G |
A |
10: 75,438,482 (GRCm39) |
V68M |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,101 (GRCm39) |
C17R |
probably benign |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Gm9631 |
T |
G |
11: 121,836,455 (GRCm39) |
D28A |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,842,087 (GRCm39) |
I21M |
probably benign |
Het |
H2-Q2 |
T |
G |
17: 35,564,661 (GRCm39) |
D354E |
probably damaging |
Het |
Icam2 |
A |
T |
11: 106,271,717 (GRCm39) |
I71K |
probably damaging |
Het |
Il12a |
T |
C |
3: 68,605,223 (GRCm39) |
|
probably benign |
Het |
Insm2 |
C |
G |
12: 55,647,225 (GRCm39) |
A323G |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,104,835 (GRCm39) |
T1064A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,773,176 (GRCm39) |
V11E |
possibly damaging |
Het |
Kctd15 |
C |
T |
7: 34,344,306 (GRCm39) |
S115N |
probably damaging |
Het |
Klra5 |
A |
G |
6: 129,880,527 (GRCm39) |
W124R |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,486 (GRCm39) |
D571V |
probably benign |
Het |
Kpna6 |
A |
T |
4: 129,544,583 (GRCm39) |
F380I |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,762,169 (GRCm39) |
Y109* |
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,503,986 (GRCm39) |
K485* |
probably null |
Het |
Man2a2 |
T |
C |
7: 80,012,945 (GRCm39) |
H540R |
possibly damaging |
Het |
Map2k4 |
T |
C |
11: 65,603,101 (GRCm39) |
E188G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,895,252 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,796,038 (GRCm39) |
D25G |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,221,915 (GRCm39) |
Q238L |
possibly damaging |
Het |
Mmachc |
A |
G |
4: 116,560,851 (GRCm39) |
Y215H |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,568,811 (GRCm39) |
Y1110* |
probably null |
Het |
Nek2 |
A |
G |
1: 191,554,331 (GRCm39) |
N57D |
probably damaging |
Het |
Nek7 |
ACCCC |
ACCC |
1: 138,443,431 (GRCm39) |
|
probably null |
Het |
Neo1 |
G |
T |
9: 58,838,317 (GRCm39) |
T489K |
probably damaging |
Het |
Neu1 |
T |
A |
17: 35,153,736 (GRCm39) |
Y387N |
probably damaging |
Het |
Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
Nle1 |
G |
A |
11: 82,795,671 (GRCm39) |
L259F |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,110,105 (GRCm39) |
Q309* |
probably null |
Het |
Nufip2 |
C |
T |
11: 77,577,279 (GRCm39) |
H76Y |
probably benign |
Het |
Or10ak16 |
A |
C |
4: 118,750,687 (GRCm39) |
T136P |
probably damaging |
Het |
Or2y13 |
A |
T |
11: 49,415,405 (GRCm39) |
N285I |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,476,096 (GRCm39) |
I82N |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,018 (GRCm39) |
I307N |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,735,358 (GRCm39) |
F206S |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,877 (GRCm39) |
I280F |
probably damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,675 (GRCm39) |
T352A |
probably benign |
Het |
Pcdhb7 |
A |
T |
18: 37,476,442 (GRCm39) |
D526V |
probably damaging |
Het |
Phkg1 |
A |
T |
5: 129,893,394 (GRCm39) |
|
probably null |
Het |
Plg |
C |
T |
17: 12,637,623 (GRCm39) |
T744M |
probably damaging |
Het |
Plxnd1 |
A |
C |
6: 115,935,660 (GRCm39) |
|
probably benign |
Het |
Poglut1 |
A |
T |
16: 38,349,837 (GRCm39) |
I312N |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
A |
G |
4: 122,737,892 (GRCm39) |
M77V |
probably benign |
Het |
Pramel26 |
A |
C |
4: 143,539,155 (GRCm39) |
S113A |
possibly damaging |
Het |
Pramel5 |
G |
T |
4: 143,998,190 (GRCm39) |
T351N |
probably damaging |
Het |
Psmb4 |
G |
A |
3: 94,792,275 (GRCm39) |
R216C |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,002,640 (GRCm39) |
T699A |
probably damaging |
Het |
Retreg3 |
A |
T |
11: 100,989,455 (GRCm39) |
|
probably benign |
Het |
Sanbr |
C |
T |
11: 23,525,491 (GRCm39) |
R716H |
probably damaging |
Het |
Scaper |
G |
A |
9: 55,665,340 (GRCm39) |
A389V |
probably damaging |
Het |
Serinc5 |
G |
A |
13: 92,825,245 (GRCm39) |
D225N |
possibly damaging |
Het |
Slco1a1 |
T |
G |
6: 141,871,480 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sod3 |
A |
T |
5: 52,525,421 (GRCm39) |
D40V |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,194,734 (GRCm39) |
A39E |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,639,056 (GRCm39) |
T761S |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,720,004 (GRCm39) |
|
probably null |
Het |
Synm |
T |
A |
7: 67,408,916 (GRCm39) |
D154V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,908,098 (GRCm39) |
E406G |
probably damaging |
Het |
Tcea3 |
T |
A |
4: 135,975,382 (GRCm39) |
L8* |
probably null |
Het |
Tec |
G |
A |
5: 72,980,840 (GRCm39) |
L33F |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,072,354 (GRCm39) |
S2634T |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,601,475 (GRCm39) |
Y162N |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,690,123 (GRCm39) |
V853I |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,068,240 (GRCm39) |
K1748E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,822 (GRCm39) |
|
probably benign |
Het |
Usp36 |
C |
T |
11: 118,163,847 (GRCm39) |
D234N |
probably damaging |
Het |
Usp40 |
G |
A |
1: 87,906,244 (GRCm39) |
P664S |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,635 (GRCm39) |
L183H |
probably benign |
Het |
Vmn1r58 |
T |
G |
7: 5,413,676 (GRCm39) |
I185L |
probably benign |
Het |
Wnt8a |
A |
T |
18: 34,680,618 (GRCm39) |
R328W |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,107,732 (GRCm39) |
|
probably benign |
Het |
Zbtb49 |
A |
C |
5: 38,358,018 (GRCm39) |
M745R |
probably damaging |
Het |
Zeb1 |
T |
G |
18: 5,759,027 (GRCm39) |
F162V |
probably damaging |
Het |
Zfp369 |
A |
T |
13: 65,445,362 (GRCm39) |
H835L |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,701,351 (GRCm39) |
V460A |
unknown |
Het |
Zp3 |
A |
G |
5: 136,013,210 (GRCm39) |
N181D |
possibly damaging |
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 |
|
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 |
|
R2133:Abcb11
|
UTSW |
2 |
69,154,227 (GRCm39) |
missense |
possibly damaging |
0.65 |
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'- CCACAAGGAAGTCAGCTTTGGACC -3'
(R):5'- GGGATACTGAATCGCTGTCTGATGC -3'
Sequencing Primer
(F):5'- AGCCAACAGTGTCTTGTAGC -3'
(R):5'- GCTGTCTGATGCCATCAAATG -3'
|
Posted On |
2013-07-11 |