Incidental Mutation 'R4765:Abcb11'
| ID |
366034 |
| 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 |
042406-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R4765 (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 69076211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1166
(F1166I)
|
| 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: F1166I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: F1166I
| 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: F1166I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: F1166I
| 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 |
noncoding transcript
Transcript: ENSMUST00000126240
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180142
AA Change: F1166I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: F1166I
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,987 (GRCm39) |
R490C |
probably benign |
Het |
| Acta2 |
T |
C |
19: 34,223,552 (GRCm39) |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,255,038 (GRCm39) |
I6195T |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankfy1 |
T |
G |
11: 72,603,117 (GRCm39) |
S49A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,890,539 (GRCm39) |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,746 (GRCm39) |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,423 (GRCm39) |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,364 (GRCm39) |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,582 (GRCm39) |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,787,002 (GRCm39) |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,771,480 (GRCm39) |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,808,164 (GRCm39) |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,963,699 (GRCm39) |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,388 (GRCm39) |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,044,441 (GRCm39) |
R1536S |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,094,979 (GRCm39) |
D752A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,818,552 (GRCm39) |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,506,075 (GRCm39) |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,200,280 (GRCm39) |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,720,631 (GRCm39) |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,883,048 (GRCm39) |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,739,068 (GRCm39) |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,013 (GRCm39) |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,699,693 (GRCm39) |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,795,381 (GRCm39) |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 (GRCm39) |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,625,554 (GRCm39) |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,107 (GRCm39) |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,187 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,765,260 (GRCm39) |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,990,405 (GRCm39) |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,126 (GRCm39) |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 77,065,239 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,498,191 (GRCm39) |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,711,592 (GRCm39) |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,321,543 (GRCm39) |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,420,866 (GRCm39) |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 81,996,686 (GRCm39) |
I946F |
possibly damaging |
Het |
| Mrtfb |
C |
A |
16: 13,230,458 (GRCm39) |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 32,094,953 (GRCm39) |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,639,387 (GRCm39) |
|
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,440 (GRCm39) |
C113R |
possibly damaging |
Het |
| Pcdhgc5 |
T |
C |
18: 37,955,122 (GRCm39) |
S799P |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,756,457 (GRCm39) |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,268,826 (GRCm39) |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,250,488 (GRCm39) |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,938,352 (GRCm39) |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,495,160 (GRCm39) |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,185,690 (GRCm39) |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,976,734 (GRCm39) |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,004,087 (GRCm39) |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,332,558 (GRCm39) |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 (GRCm38) |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,195,427 (GRCm39) |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,351,453 (GRCm39) |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,676,211 (GRCm39) |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,407,716 (GRCm39) |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,503,799 (GRCm39) |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,862 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,023,447 (GRCm39) |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,633,753 (GRCm39) |
I1284V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,851 (GRCm39) |
Y16711C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,331 (GRCm39) |
L33885P |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,456,075 (GRCm39) |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,923 (GRCm39) |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,470 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,217,947 (GRCm39) |
V465A |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,471 (GRCm39) |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,182 (GRCm39) |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,555,775 (GRCm39) |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,465,212 (GRCm39) |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,594 (GRCm39) |
M259L |
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 |
|
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'- TTAGTATCCCACGCCTCCACAG -3'
(R):5'- CAGGCAGTGTGATTGATGTCC -3'
Sequencing Primer
(F):5'- CAGCCCTGTGTTGTTCTGTAAAGAAC -3'
(R):5'- GGGGATGTTCATTCTTAAACAGATGC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation