Incidental Mutation 'R7405:Abcb11'
ID |
574484 |
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 |
045376-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.732)
|
Stock # |
R7405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69117963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 472
(Y472H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
AlphaFold |
Q9QY30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102709
AA Change: Y472H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099770 Gene: ENSMUSG00000027048 AA Change: Y472H
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: Y472H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099771 Gene: ENSMUSG00000027048 AA Change: Y472H
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: Y472H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137017 Gene: ENSMUSG00000027048 AA Change: Y472H
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,649 (GRCm39) |
V383L |
probably damaging |
Het |
4930507D05Rik |
C |
A |
10: 62,285,563 (GRCm39) |
H96N |
unknown |
Het |
5730480H06Rik |
T |
C |
5: 48,545,458 (GRCm39) |
I235T |
possibly damaging |
Het |
Adam39 |
A |
T |
8: 41,277,659 (GRCm39) |
I17L |
probably benign |
Het |
Aire |
T |
C |
10: 77,870,447 (GRCm39) |
H458R |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,577,734 (GRCm39) |
D31G |
probably benign |
Het |
Atad2b |
T |
A |
12: 4,993,232 (GRCm39) |
H250Q |
probably benign |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Borcs5 |
C |
A |
6: 134,662,945 (GRCm39) |
T74N |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,407,586 (GRCm39) |
T292I |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Cfap107 |
T |
C |
4: 144,146,323 (GRCm39) |
N110S |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,921 (GRCm39) |
F462S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,700,789 (GRCm39) |
S153G |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,993 (GRCm39) |
C328R |
possibly damaging |
Het |
Ddr1 |
A |
G |
17: 36,000,992 (GRCm39) |
V251A |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,221,986 (GRCm39) |
F475L |
probably damaging |
Het |
Dkk4 |
G |
A |
8: 23,115,859 (GRCm39) |
V99M |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,600,654 (GRCm39) |
A1938V |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,081,238 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
T |
A |
10: 85,880,445 (GRCm39) |
Y377N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,136 (GRCm39) |
I299V |
possibly damaging |
Het |
Fkbp10 |
C |
T |
11: 100,306,707 (GRCm39) |
A33V |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,850 (GRCm39) |
T87A |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
T |
5: 110,356,312 (GRCm39) |
I1000F |
probably damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,199 (GRCm39) |
I563T |
probably benign |
Het |
Gsx1 |
T |
C |
5: 147,125,943 (GRCm39) |
S82P |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,583,819 (GRCm39) |
K34E |
possibly damaging |
Het |
Kank1 |
T |
A |
19: 25,387,683 (GRCm39) |
L452* |
probably null |
Het |
Lce1k |
A |
T |
3: 92,714,181 (GRCm39) |
M1K |
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,969,868 (GRCm39) |
I185T |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,417,620 (GRCm39) |
D1046G |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,987 (GRCm39) |
Y1994N |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,238,815 (GRCm39) |
D496E |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,321 (GRCm39) |
S925F |
possibly damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,360 (GRCm39) |
G88D |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,358,648 (GRCm39) |
V783A |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,156,618 (GRCm39) |
W778R |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,712,687 (GRCm39) |
L2130P |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,476,865 (GRCm39) |
N30S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,162,253 (GRCm39) |
V299A |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,606,320 (GRCm39) |
D474G |
probably benign |
Het |
Or10ag56 |
A |
C |
2: 87,139,339 (GRCm39) |
I89L |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,246 (GRCm39) |
V151A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,899 (GRCm39) |
F370I |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,531 (GRCm39) |
V164A |
probably benign |
Het |
Pgap2 |
T |
C |
7: 101,880,595 (GRCm39) |
V41A |
probably benign |
Het |
Plekhh1 |
C |
T |
12: 79,101,821 (GRCm39) |
T297I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,173,254 (GRCm39) |
Y1226N |
probably benign |
Het |
Polr3b |
A |
G |
10: 84,520,043 (GRCm39) |
D653G |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,104,486 (GRCm39) |
F289L |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,435,524 (GRCm39) |
S82P |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,531 (GRCm39) |
V37D |
probably damaging |
Het |
Rasa2 |
G |
A |
9: 96,448,080 (GRCm39) |
P526S |
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,183,838 (GRCm39) |
I255N |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,853,717 (GRCm39) |
T296S |
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,549,167 (GRCm39) |
I316F |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,766,884 (GRCm39) |
V134D |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,604,161 (GRCm39) |
S2T |
probably benign |
Het |
Slc9a4 |
C |
T |
1: 40,640,086 (GRCm39) |
R293C |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
G |
1: 161,655,783 (GRCm39) |
F1039L |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,832,543 (GRCm39) |
Y208H |
possibly damaging |
Het |
Tpr |
T |
C |
1: 150,317,878 (GRCm39) |
S2129P |
probably benign |
Het |
Trim34b |
T |
A |
7: 103,985,690 (GRCm39) |
S442T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,573,690 (GRCm39) |
Y25734* |
probably null |
Het |
Uchl5 |
C |
T |
1: 143,675,752 (GRCm39) |
Q276* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,041,663 (GRCm39) |
D1184E |
probably damaging |
Het |
Zfat |
G |
A |
15: 68,056,334 (GRCm39) |
R241W |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,477,968 (GRCm39) |
Y48* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,118 (GRCm39) |
Q455R |
unknown |
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 |
|
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 |
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'- GCAGTTGAAATTACAAATGTGAGCC -3'
(R):5'- CATTGCTTGGTTAGGTGCACAG -3'
Sequencing Primer
(F):5'- GGAGGAAGGAAGGAAGGAAGG -3'
(R):5'- GTTAGGTGCACAGTGACATTATGAAC -3'
|
Posted On |
2019-09-13 |