Incidental Mutation 'R7343:Abcb11'
| ID |
569985 |
| 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 |
045433-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R7343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69130211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 282
(D282N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102709
AA Change: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: D282N
| 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: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: D282N
| 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 damaging
Transcript: ENSMUST00000180142
AA Change: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: D282N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
C |
6: 83,139,353 (GRCm39) |
N426T |
probably benign |
Het |
| 6430548M08Rik |
A |
G |
8: 120,872,327 (GRCm39) |
D85G |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,116,100 (GRCm39) |
F245I |
probably benign |
Het |
| Abhd17a |
G |
T |
10: 80,419,991 (GRCm39) |
F231L |
possibly damaging |
Het |
| Adgra1 |
A |
T |
7: 139,456,058 (GRCm39) |
D562V |
probably damaging |
Het |
| Akap7 |
C |
A |
10: 25,165,567 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,364 (GRCm39) |
D2413G |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,187,236 (GRCm39) |
C193S |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,023,569 (GRCm39) |
M231L |
probably benign |
Het |
| Apoh |
A |
G |
11: 108,286,674 (GRCm39) |
T33A |
probably benign |
Het |
| Atp13a5 |
T |
C |
16: 29,140,567 (GRCm39) |
N330D |
probably benign |
Het |
| C1ql3 |
T |
G |
2: 13,015,589 (GRCm39) |
M24L |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,845,014 (GRCm39) |
N712S |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,838,113 (GRCm39) |
M379V |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,517 (GRCm39) |
D28G |
probably damaging |
Het |
| Ccp110 |
A |
T |
7: 118,323,798 (GRCm39) |
Q679L |
probably benign |
Het |
| Ccz1 |
A |
T |
5: 143,935,000 (GRCm39) |
L310H |
probably damaging |
Het |
| Cerkl |
A |
T |
2: 79,259,104 (GRCm39) |
D44E |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,922,828 (GRCm39) |
E38V |
possibly damaging |
Het |
| Chia1 |
T |
A |
3: 106,039,331 (GRCm39) |
*474R |
probably null |
Het |
| Clint1 |
C |
T |
11: 45,774,590 (GRCm39) |
T32M |
probably damaging |
Het |
| Clk3 |
A |
T |
9: 57,668,239 (GRCm39) |
F227L |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,705,242 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,426,873 (GRCm39) |
I501T |
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,086,292 (GRCm39) |
A283V |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,809,647 (GRCm39) |
W777R |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,902,871 (GRCm39) |
V151D |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,316,914 (GRCm39) |
V631E |
possibly damaging |
Het |
| Dpp4 |
G |
A |
2: 62,189,245 (GRCm39) |
Q429* |
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,664,214 (GRCm39) |
R2030G |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| E2f8 |
T |
A |
7: 48,517,713 (GRCm39) |
M697L |
probably damaging |
Het |
| Eef2kmt |
C |
A |
16: 5,065,299 (GRCm39) |
G303W |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,814,489 (GRCm39) |
Y182C |
probably damaging |
Het |
| Epha6 |
G |
T |
16: 59,780,793 (GRCm39) |
A636E |
probably damaging |
Het |
| Fancd2 |
G |
A |
6: 113,513,900 (GRCm39) |
V95I |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,727,075 (GRCm39) |
C292S |
probably damaging |
Het |
| Fgfr4 |
A |
G |
13: 55,306,968 (GRCm39) |
Y219C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,912,359 (GRCm39) |
K670T |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,809,711 (GRCm39) |
H2010L |
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,312,816 (GRCm39) |
L832* |
probably null |
Het |
| Gbe1 |
A |
G |
16: 70,157,903 (GRCm39) |
T101A |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,180 (GRCm39) |
I480F |
probably damaging |
Het |
| Gm7145 |
A |
T |
1: 117,913,842 (GRCm39) |
R241S |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,268,596 (GRCm39) |
V161I |
probably benign |
Het |
| Gtpbp1 |
T |
C |
15: 79,575,243 (GRCm39) |
C46R |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,679,746 (GRCm39) |
L971Q |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,528,047 (GRCm39) |
E740G |
probably damaging |
Het |
| Lingo2 |
G |
A |
4: 35,709,450 (GRCm39) |
L177F |
possibly damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,874 (GRCm39) |
T242A |
possibly damaging |
Het |
| Mmadhc |
C |
T |
2: 50,181,457 (GRCm39) |
R71K |
probably damaging |
Het |
| Mrm3 |
G |
T |
11: 76,140,726 (GRCm39) |
V245L |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,739,619 (GRCm39) |
I117F |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,783,468 (GRCm39) |
V636D |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,438,410 (GRCm39) |
Q1486L |
probably damaging |
Het |
| Or10aa1 |
A |
T |
1: 173,870,419 (GRCm39) |
K301M |
probably damaging |
Het |
| Or2y10 |
A |
G |
11: 49,455,329 (GRCm39) |
T194A |
possibly damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,726 (GRCm39) |
R125S |
possibly damaging |
Het |
| Or4c11c |
T |
G |
2: 88,662,190 (GRCm39) |
I243R |
probably damaging |
Het |
| Or6c5b |
C |
G |
10: 129,245,852 (GRCm39) |
L206V |
possibly damaging |
Het |
| Pax9 |
T |
A |
12: 56,742,647 (GRCm39) |
M1K |
probably null |
Het |
| Pcdha1 |
T |
C |
18: 37,063,702 (GRCm39) |
V122A |
probably damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,469 (GRCm39) |
S44T |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,443,022 (GRCm39) |
L452F |
possibly damaging |
Het |
| Plbd2 |
G |
A |
5: 120,631,214 (GRCm39) |
R188W |
probably damaging |
Het |
| Ppp1r42 |
G |
A |
1: 10,039,082 (GRCm39) |
P346L |
probably benign |
Het |
| Prdm8 |
T |
A |
5: 98,332,375 (GRCm39) |
V92D |
probably damaging |
Het |
| Ripor2 |
C |
A |
13: 24,885,427 (GRCm39) |
S554* |
probably null |
Het |
| Rps19 |
T |
C |
7: 24,584,571 (GRCm39) |
V4A |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,944,817 (GRCm39) |
I159F |
probably benign |
Het |
| Rusc1 |
C |
A |
3: 88,999,057 (GRCm39) |
G242W |
probably damaging |
Het |
| Sarm1 |
A |
G |
11: 78,388,083 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Slc22a4 |
A |
G |
11: 53,877,364 (GRCm39) |
F509S |
possibly damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,456,811 (GRCm39) |
A600T |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,050,915 (GRCm39) |
H1798L |
probably damaging |
Het |
| Sulf2 |
T |
G |
2: 165,919,536 (GRCm39) |
D804A |
possibly damaging |
Het |
| Suz12 |
A |
T |
11: 79,910,529 (GRCm39) |
E316D |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,570,065 (GRCm39) |
S270P |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,248,628 (GRCm39) |
T1925A |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,072,223 (GRCm39) |
F390I |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,269,245 (GRCm39) |
A70E |
unknown |
Het |
| Trpv4 |
G |
C |
5: 114,774,520 (GRCm39) |
P188R |
probably benign |
Het |
| Txlna |
A |
C |
4: 129,525,953 (GRCm39) |
L298R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,140,749 (GRCm39) |
S1223P |
probably benign |
Het |
| Ucp1 |
A |
T |
8: 84,021,881 (GRCm39) |
T238S |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,147,943 (GRCm39) |
S957G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,438,868 (GRCm39) |
N3496D |
|
Het |
| Vmn2r50 |
T |
C |
7: 9,784,277 (GRCm39) |
|
probably null |
Het |
| Wdr54 |
A |
G |
6: 83,131,921 (GRCm39) |
V130A |
probably benign |
Het |
| Zfp692 |
A |
T |
11: 58,202,331 (GRCm39) |
E362V |
probably damaging |
Het |
| Zfp811 |
A |
G |
17: 33,016,487 (GRCm39) |
Y518H |
probably damaging |
Het |
| Zfp994 |
A |
C |
17: 22,419,049 (GRCm39) |
C633W |
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 |
|
|
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 |
|
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'- TGCCCATCAACATTTGCCAATC -3'
(R):5'- CACCCATCTTGAACCAGCTT -3'
Sequencing Primer
(F):5'- CCTGTTGCTCTAAATGACAGTGGATC -3'
(R):5'- ACCCATCTTGAACCAGCTTTTTCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation