Incidental Mutation 'R7223:Abcb11'
ID |
561917 |
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 |
045295-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.732)
|
Stock # |
R7223 (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 T
at 69104487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 733
(V733E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
AlphaFold |
Q9QY30 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102709
AA Change: V733E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099770 Gene: ENSMUSG00000027048 AA Change: V733E
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 benign
Transcript: ENSMUST00000102710
AA Change: V733E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099771 Gene: ENSMUSG00000027048 AA Change: V733E
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 benign
Transcript: ENSMUST00000180142
AA Change: V733E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137017 Gene: ENSMUSG00000027048 AA Change: V733E
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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
A |
T |
8: 44,105,041 (GRCm39) |
N201K |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,592 (GRCm39) |
S322R |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,475,058 (GRCm39) |
L914Q |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,235,139 (GRCm39) |
F535S |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Baz2a |
G |
T |
10: 127,948,475 (GRCm39) |
G252V |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,733,695 (GRCm39) |
F359S |
possibly damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,170 (GRCm39) |
L190Q |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,474,972 (GRCm39) |
V59A |
probably damaging |
Het |
Ccr8 |
T |
A |
9: 119,923,683 (GRCm39) |
I266N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,596 (GRCm39) |
E1798V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,153,684 (GRCm39) |
N1713S |
probably benign |
Het |
Cep19 |
T |
A |
16: 31,922,833 (GRCm39) |
I33N |
probably damaging |
Het |
Cers3 |
A |
T |
7: 66,433,163 (GRCm39) |
Y196F |
probably damaging |
Het |
Cidea |
T |
C |
18: 67,499,491 (GRCm39) |
I126T |
probably damaging |
Het |
Copg2 |
A |
T |
6: 30,789,689 (GRCm39) |
Y546* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,264,717 (GRCm39) |
V261E |
probably benign |
Het |
Cyp2g1 |
A |
T |
7: 26,514,057 (GRCm39) |
D221V |
probably damaging |
Het |
Cyp8b1 |
G |
A |
9: 121,744,163 (GRCm39) |
H390Y |
probably damaging |
Het |
Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
Dnajc24 |
G |
A |
2: 105,832,311 (GRCm39) |
S24L |
possibly damaging |
Het |
Dpysl3 |
T |
C |
18: 43,571,107 (GRCm39) |
S56G |
probably benign |
Het |
Esp1 |
A |
G |
17: 41,041,972 (GRCm39) |
D88G |
probably benign |
Het |
Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,177,718 (GRCm39) |
E536G |
possibly damaging |
Het |
Fbxo3 |
T |
C |
2: 103,873,357 (GRCm39) |
V156A |
possibly damaging |
Het |
Gls2 |
C |
A |
10: 128,035,063 (GRCm39) |
H65Q |
probably benign |
Het |
Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
Gpcpd1 |
T |
A |
2: 132,375,976 (GRCm39) |
K435I |
probably benign |
Het |
Gpx6 |
T |
A |
13: 21,501,840 (GRCm39) |
|
probably null |
Het |
Hps3 |
A |
T |
3: 20,084,583 (GRCm39) |
S202T |
probably benign |
Het |
Htr1d |
T |
A |
4: 136,170,812 (GRCm39) |
L347H |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,208 (GRCm39) |
L433P |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,530 (GRCm39) |
H537Y |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,765,480 (GRCm39) |
M1530K |
probably damaging |
Het |
Jarid2 |
A |
G |
13: 45,049,798 (GRCm39) |
T247A |
possibly damaging |
Het |
L3hypdh |
C |
T |
12: 72,120,783 (GRCm39) |
V323I |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,715,665 (GRCm39) |
T1707I |
possibly damaging |
Het |
Map6 |
G |
T |
7: 98,917,232 (GRCm39) |
A2S |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,421,066 (GRCm39) |
I349K |
probably benign |
Het |
Mybl2 |
A |
G |
2: 162,914,625 (GRCm39) |
T248A |
probably benign |
Het |
N6amt1 |
A |
G |
16: 87,159,548 (GRCm39) |
*151W |
probably null |
Het |
Nhlrc1 |
A |
G |
13: 47,167,684 (GRCm39) |
V191A |
probably benign |
Het |
Nkx2-5 |
T |
C |
17: 27,058,594 (GRCm39) |
E120G |
possibly damaging |
Het |
Or2y10 |
T |
A |
11: 49,454,925 (GRCm39) |
M59K |
probably damaging |
Het |
Or52r1b |
C |
A |
7: 102,690,839 (GRCm39) |
T46N |
possibly damaging |
Het |
Or8b41 |
T |
C |
9: 38,055,049 (GRCm39) |
V201A |
probably benign |
Het |
Or8k28 |
T |
A |
2: 86,286,211 (GRCm39) |
I135F |
possibly damaging |
Het |
Pcdha8 |
T |
G |
18: 37,126,201 (GRCm39) |
L228V |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,532,253 (GRCm39) |
T134A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,324,078 (GRCm39) |
R484Q |
probably benign |
Het |
Pipox |
A |
G |
11: 77,772,012 (GRCm39) |
S371P |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,823,343 (GRCm39) |
S159P |
|
Het |
Psme4 |
C |
T |
11: 30,824,226 (GRCm39) |
P1737S |
probably benign |
Het |
Pygm |
G |
A |
19: 6,438,893 (GRCm39) |
D328N |
probably benign |
Het |
Rabgef1 |
A |
T |
5: 130,219,801 (GRCm39) |
E88V |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,300,428 (GRCm39) |
R245L |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,908,226 (GRCm39) |
I172V |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,099,009 (GRCm39) |
Y586N |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,761,610 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,178,480 (GRCm39) |
V881I |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,601,726 (GRCm39) |
V1512E |
unknown |
Het |
Sufu |
T |
C |
19: 46,441,716 (GRCm39) |
I292T |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,649,450 (GRCm39) |
N87D |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,733 (GRCm39) |
T239A |
not run |
Het |
Tmem121 |
A |
T |
12: 113,152,114 (GRCm39) |
K111* |
probably null |
Het |
Tpp2 |
T |
A |
1: 44,008,048 (GRCm39) |
D417E |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,315,007 (GRCm39) |
E2025K |
possibly damaging |
Het |
Trappc3 |
C |
T |
4: 126,168,945 (GRCm39) |
A145V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,721,325 (GRCm39) |
D6754G |
probably null |
Het |
Unc13c |
T |
A |
9: 73,536,473 (GRCm39) |
M1627L |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,542,414 (GRCm39) |
I3327V |
probably benign |
Het |
Vmn1r74 |
C |
T |
7: 11,580,894 (GRCm39) |
Q65* |
probably null |
Het |
Wdr18 |
G |
A |
10: 79,796,202 (GRCm39) |
R69H |
probably damaging |
Het |
Zbed5 |
G |
T |
5: 129,929,279 (GRCm39) |
D132Y |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,785,448 (GRCm39) |
Y366* |
probably null |
Het |
Zfyve26 |
T |
C |
12: 79,292,945 (GRCm39) |
N2068S |
probably damaging |
Het |
Zic2 |
T |
C |
14: 122,713,503 (GRCm39) |
F139S |
probably damaging |
Het |
Zmynd11 |
T |
C |
13: 9,760,198 (GRCm39) |
Q141R |
probably benign |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,388 (GRCm39) |
E54G |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,828,456 (GRCm39) |
D333N |
probably benign |
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 |
|
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'- CTACTATAGCAAACCAGAATGTACG -3'
(R):5'- TTTAGGGAACAGTCCTGCCC -3'
Sequencing Primer
(F):5'- GAACCAAATTAAGTTAGTCCAGTTGC -3'
(R):5'- CCCAGTCAGGCAGGGTAAAGTC -3'
|
Posted On |
2019-06-26 |