Incidental Mutation 'R7341:Abcb11'
| ID |
569822 |
| 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 |
045431-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R7341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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 |
100% (92/92) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,177,996 (GRCm39) |
N639I |
possibly damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,206,082 (GRCm39) |
C756S |
probably damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,532,876 (GRCm39) |
|
probably null |
Het |
| Ascl4 |
G |
A |
10: 85,764,529 (GRCm39) |
A59T |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,889,066 (GRCm39) |
I315N |
possibly damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,887,330 (GRCm39) |
D206G |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,251,970 (GRCm39) |
L923I |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,919,069 (GRCm39) |
N1966K |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,946,200 (GRCm39) |
N3025S |
probably benign |
Het |
| Bub1b |
C |
A |
2: 118,467,267 (GRCm39) |
H863Q |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,554,411 (GRCm39) |
Y397* |
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,898,644 (GRCm39) |
E164G |
possibly damaging |
Het |
| Ccdc9 |
C |
T |
7: 16,014,552 (GRCm39) |
V230M |
probably damaging |
Het |
| Cchcr1 |
C |
A |
17: 35,837,610 (GRCm39) |
N437K |
probably benign |
Het |
| Cdhr2 |
T |
A |
13: 54,867,305 (GRCm39) |
L408Q |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 15,990,499 (GRCm39) |
S1684P |
probably damaging |
Het |
| CN725425 |
A |
G |
15: 91,126,873 (GRCm39) |
Y221C |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,448,678 (GRCm39) |
V66A |
probably damaging |
Het |
| Cpd |
C |
A |
11: 76,737,779 (GRCm39) |
R5L |
unknown |
Het |
| Cpeb4 |
C |
T |
11: 31,868,807 (GRCm39) |
T422I |
possibly damaging |
Het |
| Cspg4b |
G |
T |
13: 113,454,706 (GRCm39) |
G251C |
|
Het |
| Cyp1a1 |
G |
T |
9: 57,608,107 (GRCm39) |
R245L |
probably damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,705,928 (GRCm39) |
T340A |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,787 (GRCm39) |
F122L |
probably benign |
Het |
| Drc1 |
T |
A |
5: 30,521,812 (GRCm39) |
L728Q |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,809,415 (GRCm39) |
V1653D |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,623,654 (GRCm39) |
H112L |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,623,320 (GRCm39) |
D349G |
probably damaging |
Het |
| Fam151a |
T |
A |
4: 106,592,707 (GRCm39) |
M63K |
probably benign |
Het |
| Fmo9 |
C |
A |
1: 166,504,115 (GRCm39) |
G149V |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,789,603 (GRCm39) |
T254A |
possibly damaging |
Het |
| Foxi3 |
G |
A |
6: 70,937,862 (GRCm39) |
V365I |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,561,916 (GRCm39) |
G864S |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,389,704 (GRCm39) |
|
probably null |
Het |
| Garnl3 |
T |
A |
2: 32,924,141 (GRCm39) |
E247V |
probably damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gorasp1 |
T |
A |
9: 119,766,600 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,541 (GRCm39) |
N321D |
possibly damaging |
Het |
| Hoxb6 |
G |
T |
11: 96,190,395 (GRCm39) |
M131I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,980,221 (GRCm39) |
V177A |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,191,545 (GRCm39) |
T794I |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,122,948 (GRCm39) |
N379S |
probably benign |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Lrrc14 |
A |
T |
15: 76,598,711 (GRCm39) |
E449V |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,755,133 (GRCm39) |
Y303H |
probably damaging |
Het |
| Mecr |
T |
G |
4: 131,570,986 (GRCm39) |
V58G |
probably null |
Het |
| Med12l |
T |
A |
3: 58,949,824 (GRCm39) |
D193E |
possibly damaging |
Het |
| Moap1 |
T |
C |
12: 102,709,438 (GRCm39) |
E37G |
probably damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,644 (GRCm39) |
Y27F |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Ndufs5 |
A |
T |
4: 123,609,744 (GRCm39) |
C43* |
probably null |
Het |
| Oaz2 |
A |
T |
9: 65,596,183 (GRCm39) |
D83V |
|
Het |
| Or2t29 |
A |
T |
11: 58,433,533 (GRCm39) |
Y269* |
probably null |
Het |
| Or5ac22 |
T |
A |
16: 59,135,512 (GRCm39) |
N86I |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,652,697 (GRCm39) |
T191A |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,725,850 (GRCm39) |
D1569E |
unknown |
Het |
| Ppid |
T |
A |
3: 79,507,604 (GRCm39) |
D264E |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,718,749 (GRCm39) |
S722P |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,321,619 (GRCm39) |
S2639G |
possibly damaging |
Het |
| Rbak |
T |
C |
5: 143,161,827 (GRCm39) |
T68A |
probably benign |
Het |
| Rbm15b |
C |
T |
9: 106,762,246 (GRCm39) |
G641R |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,669,591 (GRCm39) |
I265T |
probably benign |
Het |
| Rmdn1 |
T |
A |
4: 19,586,837 (GRCm39) |
Y98* |
probably null |
Het |
| Sfxn3 |
T |
G |
19: 45,037,701 (GRCm39) |
N52K |
probably benign |
Het |
| Slc17a3 |
G |
T |
13: 24,030,867 (GRCm39) |
G182* |
probably null |
Het |
| Slc29a3 |
A |
T |
10: 60,586,437 (GRCm39) |
Y10N |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,693,278 (GRCm39) |
Y577H |
probably damaging |
Het |
| Smarcd3 |
T |
A |
5: 24,800,435 (GRCm39) |
I210F |
possibly damaging |
Het |
| Snapc4 |
A |
T |
2: 26,259,273 (GRCm39) |
S626T |
probably benign |
Het |
| Sp5 |
T |
A |
2: 70,307,041 (GRCm39) |
L242* |
probably null |
Het |
| Spata25 |
C |
G |
2: 164,669,582 (GRCm39) |
G143A |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,625,935 (GRCm39) |
Y101* |
probably null |
Het |
| Tdp2 |
T |
G |
13: 25,016,059 (GRCm39) |
S89A |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,110,972 (GRCm39) |
E645G |
probably benign |
Het |
| Tmem209 |
T |
C |
6: 30,494,794 (GRCm39) |
I355V |
probably benign |
Het |
| Trappc8 |
A |
T |
18: 20,985,704 (GRCm39) |
Y646N |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,657,205 (GRCm39) |
N399S |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,427,458 (GRCm39) |
Y897H |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,315,759 (GRCm39) |
|
probably null |
Het |
| Vmn2r1 |
T |
C |
3: 64,012,877 (GRCm39) |
*913Q |
probably null |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,113 (GRCm39) |
T700S |
possibly damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,239,811 (GRCm39) |
A251T |
possibly damaging |
Het |
| Wdr70 |
A |
C |
15: 7,953,725 (GRCm39) |
F389V |
possibly damaging |
Het |
| Wdr91 |
A |
T |
6: 34,868,395 (GRCm39) |
M442K |
possibly damaging |
Het |
| Ydjc |
T |
C |
16: 16,968,762 (GRCm39) |
C234R |
probably benign |
Het |
| Zfp87 |
A |
G |
13: 74,520,467 (GRCm39) |
Y204H |
possibly 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 |
|
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 |
|
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'- GCCCATCAACATTTGCCAAT -3'
(R):5'- GCACCCATCTTGAACCAGCT -3'
Sequencing Primer
(F):5'- CCTGTTGCTCTAAATGACAGTGGATC -3'
(R):5'- ACCCATCTTGAACCAGCTTTTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation