Incidental Mutation 'R3772:Abcb11'
| ID |
359670 |
| 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 |
040748-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R3772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 69159720 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: ENSMUST00000117306
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (77/77) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
G |
8: 84,649,633 (GRCm39) |
N97S |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,160,202 (GRCm39) |
D76G |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,105,431 (GRCm39) |
E179G |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,564,418 (GRCm39) |
D324G |
probably damaging |
Het |
| Arfgap2 |
A |
G |
2: 91,095,711 (GRCm39) |
T12A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,208,880 (GRCm39) |
L85P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,925,424 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,712,015 (GRCm39) |
I403N |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,220,915 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,932,359 (GRCm39) |
|
probably benign |
Het |
| Ccl2 |
C |
T |
11: 81,927,784 (GRCm39) |
A76V |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,464,615 (GRCm39) |
I180T |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,251,041 (GRCm39) |
L1680P |
probably damaging |
Het |
| Col4a6 |
C |
A |
X: 139,955,196 (GRCm39) |
G1416C |
probably damaging |
Het |
| Ctnna2 |
T |
G |
6: 76,950,752 (GRCm39) |
N573T |
probably damaging |
Het |
| Cts8 |
G |
A |
13: 61,398,715 (GRCm39) |
|
probably benign |
Het |
| Cxcl17 |
A |
G |
7: 25,099,754 (GRCm39) |
|
probably benign |
Het |
| Defb18 |
T |
C |
1: 18,306,845 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,782,130 (GRCm39) |
I229T |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,129,333 (GRCm39) |
S1474N |
possibly damaging |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,108 (GRCm39) |
K532R |
probably benign |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Focad |
A |
C |
4: 88,254,398 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
| Frrs1 |
T |
G |
3: 116,672,036 (GRCm39) |
S45A |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,124,510 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
T |
C |
5: 52,740,088 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Iglon5 |
A |
T |
7: 43,130,037 (GRCm39) |
Y42* |
probably null |
Het |
| Khdrbs2 |
C |
T |
1: 32,283,157 (GRCm39) |
Q90* |
probably null |
Het |
| Krt74 |
T |
C |
15: 101,670,630 (GRCm39) |
|
noncoding transcript |
Het |
| Lamc2 |
T |
A |
1: 152,999,997 (GRCm39) |
M1121L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,582,798 (GRCm39) |
L1073P |
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Man2c1 |
C |
A |
9: 57,047,661 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,416,934 (GRCm39) |
D768N |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,371,224 (GRCm39) |
N4108S |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,651,003 (GRCm39) |
|
probably benign |
Het |
| Nnt |
A |
G |
13: 119,533,488 (GRCm39) |
V59A |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
| Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
| Pag1 |
G |
A |
3: 9,764,688 (GRCm39) |
T155M |
probably benign |
Het |
| Pgam5 |
T |
C |
5: 110,413,459 (GRCm39) |
H176R |
probably damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,918 (GRCm39) |
D149G |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,662,259 (GRCm39) |
M1I |
probably null |
Het |
| Pld2 |
C |
T |
11: 70,434,949 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rab9b |
T |
A |
X: 135,762,198 (GRCm39) |
E67D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,777,932 (GRCm39) |
M625V |
possibly damaging |
Het |
| Rwdd2a |
A |
C |
9: 86,456,214 (GRCm39) |
N130T |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Septin10 |
A |
T |
10: 59,012,709 (GRCm39) |
M303K |
probably damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,558,375 (GRCm39) |
E339G |
probably damaging |
Het |
| Sf3b1 |
C |
A |
1: 55,039,150 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
| St18 |
A |
T |
1: 6,914,553 (GRCm39) |
K799I |
probably damaging |
Het |
| Strada |
C |
T |
11: 106,055,648 (GRCm39) |
R333Q |
probably damaging |
Het |
| Stradb |
A |
T |
1: 59,024,544 (GRCm39) |
I64L |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,224,575 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,498,640 (GRCm39) |
D651G |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,729,810 (GRCm39) |
D417V |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,757,495 (GRCm39) |
L374P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,180,011 (GRCm39) |
V262A |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,980 (GRCm39) |
N29I |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zbed4 |
C |
T |
15: 88,664,990 (GRCm39) |
P353S |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zwilch |
A |
T |
9: 64,063,316 (GRCm39) |
F286I |
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 |
|
|
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'- CTAGGCGTGTCTCACTCTTG -3'
(R):5'- GGGCTACCTTTTGAAAAGTTGG -3'
Sequencing Primer
(F):5'- AGGCGTGTCTCACTCTTGTCTTTAG -3'
(R):5'- GCTACCTTTTGAAAAGTTGGCAAAAG -3'
|
| Posted On |
2015-11-13 |
Incidental Mutation