Incidental Mutation 'R0496:Abcb11'
| ID |
43904 |
| 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 |
038692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R0496 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 69108228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102709
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
98% (99/101) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,005 (GRCm39) |
K1065E |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,747,860 (GRCm39) |
N44S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,241,701 (GRCm39) |
D1188G |
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,758,244 (GRCm39) |
I1274N |
probably damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,259,435 (GRCm39) |
C827Y |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,706,241 (GRCm39) |
V369E |
probably damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,363,867 (GRCm39) |
R195C |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,609,446 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
A |
T |
14: 52,242,364 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,182 (GRCm39) |
I692V |
probably benign |
Het |
| Atp5f1b |
G |
T |
10: 127,922,043 (GRCm39) |
R310L |
possibly damaging |
Het |
| AY358078 |
A |
T |
14: 52,040,989 (GRCm39) |
M103L |
unknown |
Het |
| Bcl9l |
T |
G |
9: 44,420,815 (GRCm39) |
V1370G |
probably benign |
Het |
| Bglap3 |
T |
A |
3: 88,276,444 (GRCm39) |
Q38L |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,041,784 (GRCm39) |
T2721A |
probably damaging |
Het |
| Ccn2 |
G |
T |
10: 24,473,413 (GRCm39) |
M317I |
possibly damaging |
Het |
| Cd38 |
T |
C |
5: 44,026,233 (GRCm39) |
F6L |
probably damaging |
Het |
| Cela3a |
A |
C |
4: 137,131,779 (GRCm39) |
V138G |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,774,709 (GRCm39) |
N117I |
possibly damaging |
Het |
| Clvs1 |
T |
A |
4: 9,424,241 (GRCm39) |
I229N |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,921,339 (GRCm39) |
H16Y |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,926,333 (GRCm39) |
L1069P |
probably damaging |
Het |
| Dgkd |
G |
A |
1: 87,864,622 (GRCm39) |
S996N |
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,965,961 (GRCm39) |
M1685K |
probably null |
Het |
| Dnajb12 |
C |
T |
10: 59,715,623 (GRCm39) |
R42* |
probably null |
Het |
| Dock5 |
T |
C |
14: 68,054,967 (GRCm39) |
Q633R |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,155,180 (GRCm39) |
M868T |
probably benign |
Het |
| Enpp1 |
G |
T |
10: 24,547,950 (GRCm39) |
H208Q |
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,821,292 (GRCm39) |
D152E |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,091 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gm10964 |
A |
T |
3: 103,646,745 (GRCm39) |
|
probably null |
Het |
| Gpbar1 |
T |
C |
1: 74,318,140 (GRCm39) |
F128L |
probably benign |
Het |
| Gsx2 |
T |
A |
5: 75,237,726 (GRCm39) |
M226K |
probably benign |
Het |
| Gucd1 |
T |
C |
10: 75,347,100 (GRCm39) |
D50G |
possibly damaging |
Het |
| Has1 |
A |
G |
17: 18,064,008 (GRCm39) |
Y544H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,903,583 (GRCm39) |
Y1024N |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,435 (GRCm39) |
Q902R |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,235,901 (GRCm39) |
K181E |
possibly damaging |
Het |
| Jak3 |
A |
T |
8: 72,135,041 (GRCm39) |
H558L |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,032,886 (GRCm39) |
T58A |
probably benign |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt33a |
C |
T |
11: 99,903,155 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
A |
T |
5: 20,866,357 (GRCm39) |
|
probably benign |
Het |
| Map4 |
G |
A |
9: 109,868,918 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,045,982 (GRCm39) |
S754T |
probably damaging |
Het |
| Mapk8ip3 |
A |
G |
17: 25,133,424 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,804,773 (GRCm39) |
S918G |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,503,963 (GRCm39) |
V377D |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,070,624 (GRCm39) |
T364A |
probably benign |
Het |
| Mta1 |
C |
T |
12: 113,094,941 (GRCm39) |
Q400* |
probably null |
Het |
| Mthfd1l |
C |
G |
10: 4,040,006 (GRCm39) |
R806G |
probably benign |
Het |
| Myh13 |
C |
A |
11: 67,239,641 (GRCm39) |
N730K |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,391,301 (GRCm39) |
K937E |
probably damaging |
Het |
| Naxd |
T |
C |
8: 11,560,224 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
G |
T |
3: 156,721,904 (GRCm39) |
K159N |
probably damaging |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,706 (GRCm39) |
S91P |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,615,549 (GRCm39) |
S268P |
probably damaging |
Het |
| Or51v14 |
C |
T |
7: 103,261,204 (GRCm39) |
A119T |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,797 (GRCm39) |
I19T |
probably damaging |
Het |
| Or5d41 |
A |
T |
2: 88,054,499 (GRCm39) |
Y292* |
probably null |
Het |
| Pcsk6 |
G |
A |
7: 65,576,997 (GRCm39) |
S58N |
probably benign |
Het |
| Pdzrn3 |
G |
A |
6: 101,127,531 (GRCm39) |
T1045I |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,750 (GRCm39) |
L641P |
probably damaging |
Het |
| Pkd1l1 |
G |
T |
11: 8,879,430 (GRCm39) |
H474N |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,694,381 (GRCm39) |
|
probably benign |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,537,713 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
A |
G |
3: 88,161,805 (GRCm39) |
V50A |
probably benign |
Het |
| Rnf135 |
G |
A |
11: 80,074,776 (GRCm39) |
V12M |
probably damaging |
Het |
| Rnf7l |
G |
T |
10: 63,257,381 (GRCm39) |
C46* |
probably null |
Het |
| Rufy2 |
T |
C |
10: 62,828,949 (GRCm39) |
V117A |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,912,630 (GRCm39) |
M866V |
probably benign |
Het |
| Slc35c2 |
G |
T |
2: 165,122,735 (GRCm39) |
T183K |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,248,512 (GRCm39) |
L377P |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,596,750 (GRCm39) |
|
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,022 (GRCm39) |
H133Y |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,064,983 (GRCm39) |
F339S |
probably benign |
Het |
| St6gal2 |
A |
G |
17: 55,789,015 (GRCm39) |
I16M |
probably damaging |
Het |
| Stat2 |
T |
C |
10: 128,112,378 (GRCm39) |
M6T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,287,021 (GRCm39) |
H157L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,085,714 (GRCm39) |
N147D |
possibly damaging |
Het |
| Tmem222 |
A |
T |
4: 133,004,902 (GRCm39) |
M45K |
possibly damaging |
Het |
| Tmem30a |
T |
A |
9: 79,684,567 (GRCm39) |
H95L |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,497,262 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,676,142 (GRCm39) |
I103V |
probably benign |
Het |
| Ube2n |
T |
C |
10: 95,377,206 (GRCm39) |
F57S |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,460,499 (GRCm39) |
S219P |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,862,695 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Wnt8a |
A |
G |
18: 34,677,900 (GRCm39) |
N103D |
probably damaging |
Het |
| Zfp523 |
G |
A |
17: 28,419,419 (GRCm39) |
E186K |
possibly damaging |
Het |
| Zfp791 |
A |
T |
8: 85,836,609 (GRCm39) |
D418E |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,485,682 (GRCm39) |
V192A |
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 |
|
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 |
|
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'- AAAGATTTCTCAATGCCCTGACCCC -3'
(R):5'- TTTCTGTGAGCAGCACCTAACCTG -3'
Sequencing Primer
(F):5'- TGACCCCACCCCAGAAC -3'
(R):5'- ACCTGGAAGTCGTCTTACAAG -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation