Incidental Mutation 'R0398:Abcb11'
| ID |
32102 |
| 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 |
038603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R0398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69117010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 546
(Q546R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102709
AA Change: Q546R
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: Q546R
| 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 null
Transcript: ENSMUST00000102710
AA Change: Q546R
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: Q546R
| 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 null
Transcript: ENSMUST00000180142
AA Change: Q546R
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: Q546R
| 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 |
0.1361 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 83.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
G |
15: 89,458,144 (GRCm39) |
V275G |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,303,448 (GRCm39) |
Y160H |
probably benign |
Het |
| Adcy5 |
T |
A |
16: 35,089,438 (GRCm39) |
M545K |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,379 (GRCm39) |
E154G |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,296,608 (GRCm39) |
L338R |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,590 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,644,866 (GRCm39) |
S436P |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,070,355 (GRCm39) |
Y16H |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,091 (GRCm39) |
F90Y |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,836,216 (GRCm39) |
Q411K |
probably benign |
Het |
| Cdca2 |
A |
C |
14: 67,935,411 (GRCm39) |
F435V |
probably damaging |
Het |
| Cdh13 |
T |
G |
8: 120,040,786 (GRCm39) |
S664A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,073,702 (GRCm39) |
V438E |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,266,032 (GRCm39) |
D40G |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,952 (GRCm39) |
H840R |
unknown |
Het |
| Cpa1 |
A |
G |
6: 30,645,250 (GRCm39) |
T409A |
probably benign |
Het |
| Crlf1 |
G |
A |
8: 70,951,739 (GRCm39) |
|
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,907,855 (GRCm39) |
I184N |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,886 (GRCm39) |
D596G |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,495,367 (GRCm39) |
R724G |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,517,267 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,671,487 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,515,928 (GRCm39) |
V626A |
probably benign |
Het |
| Gart |
G |
T |
16: 91,436,337 (GRCm39) |
A140E |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,251,274 (GRCm39) |
S477P |
possibly damaging |
Het |
| Gm16380 |
T |
C |
9: 53,791,453 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
C |
A |
1: 150,674,565 (GRCm39) |
R579M |
possibly damaging |
Het |
| Hoxb8 |
A |
C |
11: 96,173,937 (GRCm39) |
H50P |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,163,706 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
G |
A |
3: 40,711,429 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,756,670 (GRCm39) |
Y296F |
probably damaging |
Het |
| Igsf8 |
C |
A |
1: 172,145,066 (GRCm39) |
T131K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,415,373 (GRCm39) |
P298L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,259,788 (GRCm39) |
I229N |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,288,688 (GRCm39) |
D1205G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,910 (GRCm39) |
R74G |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,013,760 (GRCm39) |
T481A |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,244,810 (GRCm39) |
T7312S |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,030,299 (GRCm39) |
Q1068* |
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,941,302 (GRCm39) |
Y203C |
probably damaging |
Het |
| Nek2 |
T |
A |
1: 191,559,473 (GRCm39) |
I326N |
probably benign |
Het |
| Nlrc4 |
A |
C |
17: 74,752,915 (GRCm39) |
N489K |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,732 (GRCm39) |
S304R |
possibly damaging |
Het |
| Ogfr |
C |
G |
2: 180,235,492 (GRCm39) |
R189G |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,899 (GRCm39) |
L252H |
probably damaging |
Het |
| Or5p78 |
T |
A |
7: 108,212,162 (GRCm39) |
I216N |
probably benign |
Het |
| Or5w8 |
A |
T |
2: 87,688,401 (GRCm39) |
N294I |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,885 (GRCm39) |
S145G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,716 (GRCm39) |
E3406G |
unknown |
Het |
| Pcx |
T |
G |
19: 4,651,638 (GRCm39) |
F4C |
probably benign |
Het |
| Pgd |
C |
A |
4: 149,238,339 (GRCm39) |
G364V |
probably damaging |
Het |
| Pla2g12a |
C |
A |
3: 129,684,045 (GRCm39) |
D102E |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,833,253 (GRCm39) |
C82* |
probably null |
Het |
| Prdm1 |
T |
C |
10: 44,315,805 (GRCm39) |
N792S |
probably damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,757 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,094 (GRCm39) |
P242Q |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,370 (GRCm39) |
N129S |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,150 (GRCm39) |
T231A |
possibly damaging |
Het |
| Qrfpr |
C |
T |
3: 36,235,201 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,364,344 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,526,508 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,385 (GRCm39) |
E25G |
probably damaging |
Het |
| Rpl8 |
G |
C |
15: 76,789,246 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
G |
A |
15: 53,583,116 (GRCm39) |
P73S |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,502 (GRCm39) |
N920Y |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,476 (GRCm39) |
V607A |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,508,401 (GRCm39) |
Y196H |
probably damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,869,621 (GRCm39) |
M12K |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,018,556 (GRCm39) |
I501T |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,262,408 (GRCm39) |
V546D |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,313,727 (GRCm39) |
V511M |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,526,788 (GRCm39) |
V1015G |
probably benign |
Het |
| Thoc5 |
G |
T |
11: 4,871,978 (GRCm39) |
V516F |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,628 (GRCm39) |
I570N |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,524,770 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Yipf3 |
A |
G |
17: 46,562,411 (GRCm39) |
E298G |
possibly damaging |
Het |
| Zbtb34 |
C |
A |
2: 33,301,060 (GRCm39) |
E494* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,677,878 (GRCm39) |
Y2976C |
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 |
|
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 |
|
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'- AGCTCCACTTTCACAGATGCTAACC -3'
(R):5'- AAGGACACTAAGCTGTGTGATGCTC -3'
Sequencing Primer
(F):5'- CTTTCACAGATGCTAACCGTATAGAC -3'
(R):5'- CTCTAGGTGACTCTGGATGGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation