Incidental Mutation 'R0437:Abcb11'
| ID |
39042 |
| 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 |
038638-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R0437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69087639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1042
(A1042V)
|
| 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: A1042V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: A1042V
| 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: A1042V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: A1042V
| 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: A1042V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: A1042V
| 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 |
0.1217 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (104/104) |
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
A |
13: 119,606,631 (GRCm39) |
R291K |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,332,857 (GRCm39) |
S1519P |
probably damaging |
Het |
| Abcc10 |
A |
T |
17: 46,623,845 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,623,846 (GRCm39) |
|
probably benign |
Het |
| Alkbh3 |
A |
C |
2: 93,811,914 (GRCm39) |
L240V |
probably damaging |
Het |
| Apol10b |
T |
C |
15: 77,469,608 (GRCm39) |
S190G |
probably benign |
Het |
| Atp1a3 |
C |
A |
7: 24,698,392 (GRCm39) |
C135F |
probably benign |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,722,687 (GRCm39) |
S277P |
possibly damaging |
Het |
| Bltp1 |
A |
T |
3: 37,043,953 (GRCm39) |
H2820L |
possibly damaging |
Het |
| Bmp8a |
T |
C |
4: 123,210,690 (GRCm39) |
E275G |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,640,054 (GRCm39) |
E80G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,246,576 (GRCm39) |
D954G |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,788 (GRCm39) |
T399A |
possibly damaging |
Het |
| Clcn3 |
A |
G |
8: 61,387,571 (GRCm39) |
V199A |
possibly damaging |
Het |
| Crlf1 |
T |
C |
8: 70,952,164 (GRCm39) |
|
probably null |
Het |
| Crx |
G |
T |
7: 15,605,071 (GRCm39) |
S57* |
probably null |
Het |
| Cstpp1 |
A |
G |
2: 91,252,298 (GRCm39) |
L21P |
probably damaging |
Het |
| Cyp4f16 |
A |
G |
17: 32,756,072 (GRCm39) |
I34V |
possibly damaging |
Het |
| Daxx |
T |
C |
17: 34,132,598 (GRCm39) |
V576A |
probably benign |
Het |
| Ddx17 |
C |
T |
15: 79,421,672 (GRCm39) |
R351H |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,261 (GRCm39) |
|
probably benign |
Het |
| Dnd1 |
T |
C |
18: 36,897,552 (GRCm39) |
|
probably benign |
Het |
| Dync1i2 |
A |
T |
2: 71,058,169 (GRCm39) |
|
probably null |
Het |
| E2f6 |
T |
C |
12: 16,866,446 (GRCm39) |
S52P |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 34,013,326 (GRCm39) |
F116S |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 52,969,502 (GRCm39) |
N362S |
probably damaging |
Het |
| Fam227a |
C |
A |
15: 79,528,189 (GRCm39) |
K79N |
possibly damaging |
Het |
| Fam228a |
T |
A |
12: 4,782,759 (GRCm39) |
L111F |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,173,625 (GRCm39) |
T2363A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,228 (GRCm39) |
N2591K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,436 (GRCm39) |
M1357T |
possibly damaging |
Het |
| Frmd4b |
A |
T |
6: 97,400,424 (GRCm39) |
V29D |
probably damaging |
Het |
| G930045G22Rik |
A |
G |
6: 50,823,918 (GRCm39) |
|
noncoding transcript |
Het |
| Galnt3 |
A |
G |
2: 65,937,573 (GRCm39) |
S46P |
possibly damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,869,563 (GRCm39) |
R4271* |
probably null |
Het |
| Il5 |
C |
A |
11: 53,614,733 (GRCm39) |
|
probably benign |
Het |
| Ints9 |
G |
A |
14: 65,223,818 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,556,453 (GRCm39) |
F196S |
probably damaging |
Het |
| Itgb3bp |
T |
C |
4: 99,670,126 (GRCm39) |
T138A |
probably damaging |
Het |
| Kcnd1 |
G |
A |
X: 7,690,922 (GRCm39) |
V281M |
probably benign |
Het |
| Lcp2 |
T |
C |
11: 34,037,229 (GRCm39) |
L391P |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,765,030 (GRCm39) |
Y671C |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,740,120 (GRCm39) |
V197A |
possibly damaging |
Het |
| Mmp15 |
C |
A |
8: 96,097,400 (GRCm39) |
D456E |
probably benign |
Het |
| Mospd4 |
T |
C |
18: 46,598,848 (GRCm39) |
|
noncoding transcript |
Het |
| Mov10l1 |
C |
A |
15: 88,889,515 (GRCm39) |
H484N |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,453,631 (GRCm39) |
Q197R |
probably benign |
Het |
| Ms4a1 |
T |
A |
19: 11,233,933 (GRCm39) |
|
probably null |
Het |
| Mybbp1a |
T |
C |
11: 72,339,674 (GRCm39) |
V919A |
possibly damaging |
Het |
| Mycbpap |
A |
T |
11: 94,404,338 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,433,432 (GRCm39) |
S1135F |
possibly damaging |
Het |
| Ndufc2 |
T |
A |
7: 97,049,544 (GRCm39) |
M50K |
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,648,082 (GRCm39) |
V842A |
probably damaging |
Het |
| Ntsr2 |
G |
T |
12: 16,703,696 (GRCm39) |
G66W |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,914 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,229 (GRCm39) |
N93K |
probably benign |
Het |
| Or4c114 |
T |
A |
2: 88,904,956 (GRCm39) |
I160F |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,965 (GRCm39) |
V245A |
probably damaging |
Het |
| Or6k14 |
G |
A |
1: 173,927,965 (GRCm39) |
G314R |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,396,626 (GRCm39) |
H628Q |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,456,240 (GRCm39) |
T585A |
probably benign |
Het |
| Pex16 |
G |
T |
2: 92,205,937 (GRCm39) |
R10L |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,269,152 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,375 (GRCm39) |
T549A |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,613,759 (GRCm39) |
M470K |
probably benign |
Het |
| Prkag2 |
T |
A |
5: 25,233,503 (GRCm39) |
D49V |
possibly damaging |
Het |
| Prl3c1 |
A |
G |
13: 27,383,447 (GRCm39) |
M38V |
probably benign |
Het |
| Prpf18 |
T |
A |
2: 4,648,572 (GRCm39) |
I85F |
possibly damaging |
Het |
| Psg27 |
A |
G |
7: 18,294,636 (GRCm39) |
|
probably benign |
Het |
| Relt |
A |
G |
7: 100,497,991 (GRCm39) |
|
probably benign |
Het |
| Rskr |
T |
C |
11: 78,182,362 (GRCm39) |
L57P |
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,096,929 (GRCm39) |
N70I |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,286 (GRCm39) |
S244G |
probably benign |
Het |
| Slc39a5 |
T |
C |
10: 128,235,716 (GRCm39) |
T81A |
possibly damaging |
Het |
| Slc7a2 |
G |
A |
8: 41,357,563 (GRCm39) |
G277D |
probably damaging |
Het |
| Slc9c1 |
C |
T |
16: 45,420,250 (GRCm39) |
|
probably benign |
Het |
| Slx1b |
A |
G |
7: 126,291,753 (GRCm39) |
F104L |
probably benign |
Het |
| Smg6 |
G |
A |
11: 74,820,527 (GRCm39) |
S266N |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,146,614 (GRCm39) |
V162A |
possibly damaging |
Het |
| Szrd1 |
T |
C |
4: 140,846,055 (GRCm39) |
I47V |
probably benign |
Het |
| Tha1 |
G |
T |
11: 117,759,401 (GRCm39) |
L363M |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,669,087 (GRCm39) |
T89I |
possibly damaging |
Het |
| Tmem132d |
C |
T |
5: 127,866,849 (GRCm39) |
G684R |
probably damaging |
Het |
| Trim55 |
G |
A |
3: 19,725,142 (GRCm39) |
G220S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,600,874 (GRCm39) |
L18836P |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,890,048 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,643,228 (GRCm39) |
W4197G |
probably benign |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,231 (GRCm39) |
V202E |
probably damaging |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,526 (GRCm39) |
I55V |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,412 (GRCm39) |
C735S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,543,281 (GRCm39) |
D174V |
probably damaging |
Het |
| Zfp438 |
T |
C |
18: 5,214,910 (GRCm39) |
N16S |
probably damaging |
Het |
| Zfp444 |
C |
T |
7: 6,192,408 (GRCm39) |
T142I |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 81,884,135 (GRCm39) |
M1V |
probably null |
Het |
| Zfp936 |
T |
G |
7: 42,838,734 (GRCm39) |
I67S |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,807,260 (GRCm39) |
N151Y |
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 |
|
|
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 |
|
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'- CATCAGATCATGTGCTTGCAGTTTCC -3'
(R):5'- CATGACTGAAGAGACTTGCTCAAGCTC -3'
Sequencing Primer
(F):5'- tgccttggccttccgac -3'
(R):5'- CTTTGGGCCTACCACTTACA -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation