Incidental Mutation 'R0413:Abcb11'
ID |
36755 |
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 |
038615-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.732)
|
Stock # |
R0413 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 69158355 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
99% (99/100) |
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 |
Adh1 |
C |
T |
3: 137,986,193 (GRCm39) |
T60I |
probably benign |
Het |
Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
Arih2 |
G |
T |
9: 108,493,916 (GRCm39) |
Q166K |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,025,947 (GRCm39) |
T1031A |
probably benign |
Het |
Ccdc102a |
C |
A |
8: 95,629,914 (GRCm39) |
E542D |
probably benign |
Het |
Cdk1 |
T |
C |
10: 69,180,929 (GRCm39) |
I94V |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,359,176 (GRCm39) |
Q969* |
probably null |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,606,642 (GRCm39) |
T594A |
probably damaging |
Het |
Cpox |
A |
G |
16: 58,491,232 (GRCm39) |
T148A |
possibly damaging |
Het |
Csf3r |
A |
G |
4: 125,933,460 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,760,530 (GRCm39) |
C202S |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,998,961 (GRCm39) |
Y1029F |
probably damaging |
Het |
Dok5 |
T |
C |
2: 170,671,880 (GRCm39) |
|
probably benign |
Het |
Dusp11 |
A |
T |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
Edar |
T |
C |
10: 58,465,262 (GRCm39) |
N34D |
probably benign |
Het |
Efcab7 |
C |
T |
4: 99,766,943 (GRCm39) |
T56I |
probably damaging |
Het |
Entpd1 |
G |
A |
19: 40,699,729 (GRCm39) |
V47I |
probably benign |
Het |
Ephx4 |
A |
G |
5: 107,551,601 (GRCm39) |
N62S |
probably benign |
Het |
Etaa1 |
A |
T |
11: 17,896,350 (GRCm39) |
L589* |
probably null |
Het |
Fam135b |
T |
A |
15: 71,335,670 (GRCm39) |
N508I |
probably benign |
Het |
Fam193a |
T |
C |
5: 34,623,552 (GRCm39) |
V27A |
possibly damaging |
Het |
Fmnl1 |
A |
G |
11: 103,084,889 (GRCm39) |
|
probably benign |
Het |
Fstl1 |
A |
C |
16: 37,641,516 (GRCm39) |
|
probably null |
Het |
Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
Gemin4 |
T |
C |
11: 76,102,148 (GRCm39) |
Y871C |
probably benign |
Het |
Get1 |
T |
G |
16: 95,954,217 (GRCm39) |
S105R |
probably benign |
Het |
Gm7247 |
T |
C |
14: 51,760,929 (GRCm39) |
V166A |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,406,543 (GRCm39) |
|
probably benign |
Het |
Gpnmb |
A |
G |
6: 49,019,737 (GRCm39) |
D36G |
probably benign |
Het |
Ido2 |
C |
T |
8: 25,048,159 (GRCm39) |
|
probably null |
Het |
Igfn1 |
G |
A |
1: 135,895,334 (GRCm39) |
T1744I |
probably benign |
Het |
Inf2 |
T |
G |
12: 112,568,110 (GRCm39) |
F221V |
probably damaging |
Het |
Itga10 |
T |
A |
3: 96,556,375 (GRCm39) |
I170N |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,484,587 (GRCm39) |
D345E |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,366,062 (GRCm39) |
S2900T |
probably benign |
Het |
Med13 |
C |
A |
11: 86,190,033 (GRCm39) |
|
probably benign |
Het |
Morc3 |
T |
C |
16: 93,667,362 (GRCm39) |
V507A |
probably damaging |
Het |
Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
Myl6 |
C |
T |
10: 128,328,091 (GRCm39) |
|
probably benign |
Het |
Mylk |
T |
C |
16: 34,742,314 (GRCm39) |
V942A |
probably benign |
Het |
Myorg |
G |
T |
4: 41,498,585 (GRCm39) |
H348Q |
probably benign |
Het |
Ncdn |
G |
T |
4: 126,644,327 (GRCm39) |
T165K |
possibly damaging |
Het |
Ncf1 |
T |
C |
5: 134,251,656 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,180,751 (GRCm39) |
|
probably benign |
Het |
Nid1 |
T |
A |
13: 13,656,681 (GRCm39) |
I604N |
probably benign |
Het |
Nsrp1 |
T |
C |
11: 76,936,997 (GRCm39) |
R400G |
probably benign |
Het |
Nup43 |
T |
G |
10: 7,546,791 (GRCm39) |
I137S |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,109,648 (GRCm39) |
N1585S |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,893,823 (GRCm39) |
Y6748F |
probably benign |
Het |
Omg |
A |
G |
11: 79,393,661 (GRCm39) |
S66P |
possibly damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,108 (GRCm39) |
S265T |
possibly damaging |
Het |
Or2y1d |
T |
C |
11: 49,322,212 (GRCm39) |
V303A |
possibly damaging |
Het |
Or4c15 |
A |
G |
2: 88,759,906 (GRCm39) |
V251A |
probably benign |
Het |
Or51b6b |
A |
T |
7: 103,309,957 (GRCm39) |
F167I |
possibly damaging |
Het |
Or52z1 |
A |
G |
7: 103,437,362 (GRCm39) |
Y41H |
probably damaging |
Het |
Or5ak22 |
T |
C |
2: 85,230,019 (GRCm39) |
N286S |
probably damaging |
Het |
Or8g27 |
A |
G |
9: 39,129,566 (GRCm39) |
I304M |
probably benign |
Het |
Or8k24 |
G |
A |
2: 86,216,058 (GRCm39) |
R235C |
probably benign |
Het |
Ormdl1 |
C |
T |
1: 53,347,978 (GRCm39) |
|
probably benign |
Het |
Ovch2 |
T |
A |
7: 107,381,243 (GRCm39) |
I552L |
probably benign |
Het |
Pcare |
T |
G |
17: 72,059,212 (GRCm39) |
D155A |
probably benign |
Het |
Pcsk9 |
G |
T |
4: 106,311,538 (GRCm39) |
T231N |
probably damaging |
Het |
Pgpep1 |
T |
C |
8: 71,110,100 (GRCm39) |
N22S |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,512,706 (GRCm39) |
F1355L |
probably damaging |
Het |
Plcg1 |
G |
T |
2: 160,603,349 (GRCm39) |
L1173F |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,091,373 (GRCm39) |
|
probably null |
Het |
Ppp1r3g |
T |
A |
13: 36,153,331 (GRCm39) |
F250L |
probably damaging |
Het |
Prkcg |
A |
G |
7: 3,368,095 (GRCm39) |
I381V |
probably benign |
Het |
Pum2 |
C |
T |
12: 8,763,464 (GRCm39) |
A207V |
probably benign |
Het |
Rabac1 |
T |
C |
7: 24,669,607 (GRCm39) |
E166G |
probably damaging |
Het |
Rad21l |
G |
A |
2: 151,493,851 (GRCm39) |
S450L |
probably benign |
Het |
Rangap1 |
ACACTCA |
ACA |
15: 81,600,876 (GRCm39) |
|
probably null |
Het |
Reg3b |
G |
T |
6: 78,348,824 (GRCm39) |
C40F |
probably damaging |
Het |
Rfx2 |
A |
G |
17: 57,091,418 (GRCm39) |
|
probably benign |
Het |
Rrp15 |
G |
A |
1: 186,481,346 (GRCm39) |
|
probably benign |
Het |
Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
Sec61a2 |
A |
T |
2: 5,881,165 (GRCm39) |
|
probably benign |
Het |
Sema5a |
A |
G |
15: 32,669,590 (GRCm39) |
K705E |
probably damaging |
Het |
Setx |
A |
G |
2: 29,029,290 (GRCm39) |
Y186C |
probably damaging |
Het |
Slc22a23 |
T |
C |
13: 34,367,115 (GRCm39) |
E631G |
probably damaging |
Het |
Slc5a5 |
T |
C |
8: 71,344,319 (GRCm39) |
T134A |
possibly damaging |
Het |
Stx7 |
T |
C |
10: 24,057,492 (GRCm39) |
S173P |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,536,668 (GRCm39) |
T353A |
probably damaging |
Het |
Syde2 |
T |
A |
3: 145,712,887 (GRCm39) |
N1008K |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,606,253 (GRCm39) |
|
probably benign |
Het |
Timm10b |
G |
A |
7: 105,327,537 (GRCm39) |
E61K |
probably benign |
Het |
Tm2d1 |
A |
G |
4: 98,253,810 (GRCm39) |
I121T |
probably damaging |
Het |
Trim75 |
T |
C |
8: 65,435,892 (GRCm39) |
E186G |
probably benign |
Het |
Tti1 |
T |
C |
2: 157,837,396 (GRCm39) |
K895E |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,830 (GRCm39) |
S219P |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,521,087 (GRCm39) |
S294T |
possibly damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,464,080 (GRCm39) |
F737I |
probably damaging |
Het |
Vsx2 |
A |
T |
12: 84,616,777 (GRCm39) |
T21S |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,010,534 (GRCm39) |
R833S |
probably damaging |
Het |
Zfpl1 |
G |
A |
19: 6,132,482 (GRCm39) |
P143L |
probably damaging |
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 |
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 |
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'- GCTCTGTGGTAGACTGGGATGCAA -3'
(R):5'- CATCTGCTCTACATGGGCTGACAAA -3'
Sequencing Primer
(F):5'- aagaagaaagcagcccaaaag -3'
(R):5'- ggagactgaagcaggaaaattac -3'
|
Posted On |
2013-05-09 |