Incidental Mutation 'R1460:Abcb11'
| ID |
162028 |
| 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 |
039515-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R1460 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 69087718 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 |
noncoding transcript
Transcript: ENSMUST00000126240
|
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.1%
|
| Validation Efficiency |
94% (93/99) |
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
T |
4: 109,388,407 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
T |
C |
16: 56,382,780 (GRCm39) |
V130A |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,084,009 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
A |
G |
5: 129,199,627 (GRCm39) |
T155A |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,513,103 (GRCm39) |
S631T |
probably damaging |
Het |
| Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,680,325 (GRCm39) |
A384T |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,924,824 (GRCm39) |
I303N |
probably damaging |
Het |
| B3gntl1 |
T |
G |
11: 121,530,624 (GRCm39) |
Y149S |
probably damaging |
Het |
| Btnl2 |
A |
G |
17: 34,585,424 (GRCm39) |
D475G |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,009,092 (GRCm39) |
S529T |
possibly damaging |
Het |
| Cenpt |
A |
G |
8: 106,575,520 (GRCm39) |
L194P |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,625,934 (GRCm39) |
I788F |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,534,515 (GRCm39) |
D177G |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cish |
G |
T |
9: 107,177,596 (GRCm39) |
E91* |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,780 (GRCm39) |
D740G |
unknown |
Het |
| Cplane2 |
T |
C |
4: 140,945,523 (GRCm39) |
F125L |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,756,551 (GRCm39) |
Q1025* |
probably null |
Het |
| Ctrc |
C |
A |
4: 141,566,120 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
A |
7: 107,356,450 (GRCm39) |
D7V |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,744 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
C |
1: 153,341,426 (GRCm39) |
D607E |
probably benign |
Het |
| Dnajb7 |
C |
T |
15: 81,291,888 (GRCm39) |
G150R |
probably benign |
Het |
| Dnase1l3 |
T |
A |
14: 7,974,050 (GRCm38) |
T214S |
probably benign |
Het |
| Dpm1 |
A |
T |
2: 168,052,549 (GRCm39) |
I229N |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Entpd1 |
T |
C |
19: 40,714,632 (GRCm39) |
V247A |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,037,672 (GRCm39) |
H277Q |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,793,288 (GRCm39) |
N671I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fancd2os |
G |
A |
6: 113,574,973 (GRCm39) |
T11I |
probably damaging |
Het |
| Fcrlb |
G |
T |
1: 170,739,853 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,638,183 (GRCm39) |
I39V |
probably damaging |
Het |
| Gm9991 |
T |
C |
1: 90,606,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gstk1 |
C |
T |
6: 42,223,529 (GRCm39) |
R40W |
probably damaging |
Het |
| Gstt1 |
C |
T |
10: 75,620,004 (GRCm39) |
V190M |
probably damaging |
Het |
| Hectd2 |
G |
A |
19: 36,592,908 (GRCm39) |
W691* |
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,852,404 (GRCm39) |
T1572A |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,180,928 (GRCm39) |
T135A |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,880 (GRCm39) |
C77S |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,874,990 (GRCm39) |
D449G |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,653 (GRCm39) |
V11A |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,766,447 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
G |
T |
11: 82,686,624 (GRCm39) |
|
probably benign |
Het |
| Lipo4 |
A |
C |
19: 33,476,718 (GRCm39) |
F343L |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,789,908 (GRCm39) |
Y480* |
probably null |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mill1 |
C |
A |
7: 17,996,595 (GRCm39) |
A137D |
probably damaging |
Het |
| Mmut |
T |
C |
17: 41,248,266 (GRCm39) |
Y98H |
probably damaging |
Het |
| Morc2a |
A |
T |
11: 3,633,794 (GRCm39) |
R635S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,575,237 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,017,492 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,657,853 (GRCm39) |
S57Y |
probably damaging |
Het |
| Myo3b |
G |
A |
2: 70,062,798 (GRCm39) |
E333K |
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,444,725 (GRCm39) |
I514F |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,338,082 (GRCm39) |
C708R |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,390,440 (GRCm39) |
E249G |
probably damaging |
Het |
| Npy2r |
T |
C |
3: 82,448,251 (GRCm39) |
I175V |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,946,792 (GRCm39) |
V4114D |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,504 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4a76 |
A |
G |
2: 89,460,282 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
A |
7: 104,684,915 (GRCm39) |
I170N |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,503 (GRCm39) |
M288T |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,352,921 (GRCm39) |
I196N |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,228,890 (GRCm39) |
T209M |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,918,368 (GRCm39) |
M642T |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,686 (GRCm39) |
M190V |
probably benign |
Het |
| Psmd7 |
G |
A |
8: 108,307,691 (GRCm39) |
S264L |
possibly damaging |
Het |
| Qrich1 |
T |
G |
9: 108,410,846 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 71,861,520 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
T |
C |
3: 94,863,636 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgr |
G |
A |
14: 36,767,683 (GRCm39) |
R113C |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,645,873 (GRCm39) |
|
probably benign |
Het |
| Rps3a1 |
G |
A |
3: 86,045,369 (GRCm39) |
A241V |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,127,481 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,532,187 (GRCm39) |
T600A |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,493,751 (GRCm39) |
D339G |
possibly damaging |
Het |
| Sipa1 |
T |
A |
19: 5,701,475 (GRCm39) |
H1029L |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,539,736 (GRCm39) |
T362A |
probably benign |
Het |
| Snrnp48 |
A |
G |
13: 38,395,081 (GRCm39) |
T124A |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,088,637 (GRCm39) |
M875K |
possibly damaging |
Het |
| Supt6 |
A |
G |
11: 78,113,024 (GRCm39) |
V973A |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,279,162 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,740 (GRCm39) |
N3015K |
possibly damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,841 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
A |
G |
17: 47,628,771 (GRCm39) |
|
noncoding transcript |
Het |
| Trim24 |
T |
A |
6: 37,941,761 (GRCm39) |
F904I |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,121,311 (GRCm39) |
Y328F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,698,717 (GRCm39) |
E6G |
probably damaging |
Het |
| Ube2m |
T |
C |
7: 12,769,762 (GRCm39) |
|
probably benign |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,672,639 (GRCm39) |
R91S |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,079,422 (GRCm39) |
S237R |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,603,159 (GRCm39) |
H701L |
possibly damaging |
Het |
| Zp1 |
T |
C |
19: 10,896,242 (GRCm39) |
D161G |
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 |
|
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'- TCTGAGTGTAAATGGATGAACACAGGC -3'
(R):5'- AGGATACAGGCAACTGCATTTTCCTTC -3'
Sequencing Primer
(F):5'- acacacacacaaacacacac -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation