Incidental Mutation 'R1714:Abcb11'
| ID |
190833 |
| 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 |
039747-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R1714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 69136925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 179
(F179V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102709
AA Change: F179V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: F179V
| 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: F179V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: F179V
| 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: F179V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: F179V
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,464,479 (GRCm39) |
T892I |
possibly damaging |
Het |
| Adgrg6 |
G |
T |
10: 14,315,514 (GRCm39) |
Q597K |
possibly damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,916 (GRCm39) |
Y464* |
probably null |
Het |
| Apba1 |
G |
A |
19: 23,922,316 (GRCm39) |
E795K |
possibly damaging |
Het |
| Aqp12 |
T |
A |
1: 92,934,681 (GRCm39) |
V186D |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,631,112 (GRCm39) |
S2R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,760,853 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,171,245 (GRCm39) |
H219Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,984,559 (GRCm39) |
Y417H |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,833,994 (GRCm39) |
F932I |
possibly damaging |
Het |
| Cxxc1 |
C |
A |
18: 74,352,934 (GRCm39) |
R415S |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,813,400 (GRCm39) |
A182V |
probably benign |
Het |
| Ddx11 |
T |
G |
17: 66,455,754 (GRCm39) |
W718G |
probably damaging |
Het |
| Dmd |
A |
C |
X: 83,008,356 (GRCm39) |
T2069P |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,632,164 (GRCm39) |
F533L |
probably benign |
Het |
| Dnajc5b |
A |
T |
3: 19,633,265 (GRCm39) |
R163* |
probably null |
Het |
| Dynll2 |
T |
A |
11: 87,874,838 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
A |
G |
1: 44,206,499 (GRCm39) |
T471A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,016,435 (GRCm39) |
D563G |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,658 (GRCm39) |
Y6C |
probably damaging |
Het |
| Fcrl5 |
T |
A |
3: 87,353,713 (GRCm39) |
S353T |
probably damaging |
Het |
| Gabrb3 |
A |
T |
7: 57,415,176 (GRCm39) |
Y82F |
probably damaging |
Het |
| Gm20939 |
C |
A |
17: 95,183,234 (GRCm39) |
P157T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,117,935 (GRCm39) |
T69A |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,321,041 (GRCm39) |
H468Q |
probably benign |
Het |
| Il20ra |
T |
C |
10: 19,631,576 (GRCm39) |
V259A |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,414 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,871,912 (GRCm39) |
S586P |
probably benign |
Het |
| Kl |
A |
T |
5: 150,876,798 (GRCm39) |
Y206F |
probably benign |
Het |
| Klk1b24 |
C |
A |
7: 43,840,939 (GRCm39) |
D122E |
probably damaging |
Het |
| Kmt2d |
A |
C |
15: 98,760,831 (GRCm39) |
S840A |
unknown |
Het |
| Krt34 |
A |
G |
11: 99,930,953 (GRCm39) |
S150P |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,769 (GRCm39) |
K1502R |
probably benign |
Het |
| Letm1 |
G |
T |
5: 33,918,228 (GRCm39) |
R306S |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,768,398 (GRCm39) |
G397S |
probably null |
Het |
| Lrrc8c |
A |
G |
5: 105,755,157 (GRCm39) |
T311A |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,198 (GRCm39) |
D552V |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,054,232 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
T |
C |
6: 126,799,154 (GRCm39) |
|
probably null |
Het |
| Or4e5 |
A |
C |
14: 52,727,871 (GRCm39) |
|
probably null |
Het |
| Or4f4b |
A |
T |
2: 111,314,008 (GRCm39) |
I78F |
probably damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,614 (GRCm39) |
C141Y |
probably damaging |
Het |
| Polr3d |
A |
C |
14: 70,678,755 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ppp5c |
T |
C |
7: 16,742,628 (GRCm39) |
I237V |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,504,945 (GRCm39) |
T2632M |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,697 (GRCm38) |
Q1022K |
probably damaging |
Het |
| Pus10 |
T |
A |
11: 23,675,542 (GRCm39) |
H471Q |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,174 (GRCm39) |
V1928A |
probably damaging |
Het |
| Rbpms2 |
CACT |
CACTACT |
9: 65,558,947 (GRCm39) |
|
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
T |
G |
7: 5,113,357 (GRCm39) |
T269P |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 128,004,946 (GRCm39) |
V72A |
probably damaging |
Het |
| Rsph1 |
T |
C |
17: 31,474,190 (GRCm39) |
N289S |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,966,121 (GRCm39) |
D21G |
probably benign |
Het |
| Shbg |
A |
T |
11: 69,507,983 (GRCm39) |
D127E |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 69,882,164 (GRCm39) |
E52G |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,344,850 (GRCm39) |
G945D |
possibly damaging |
Het |
| Sstr3 |
A |
T |
15: 78,424,473 (GRCm39) |
D91E |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,101,713 (GRCm39) |
A669E |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,208,907 (GRCm39) |
I109V |
probably benign |
Het |
| Ube2j1 |
A |
G |
4: 33,049,886 (GRCm39) |
T295A |
probably damaging |
Het |
| Usp46 |
A |
G |
5: 74,163,828 (GRCm39) |
V276A |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,640 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ydjc |
G |
A |
16: 16,965,663 (GRCm39) |
V143M |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,652,330 (GRCm39) |
E29G |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,808,935 (GRCm39) |
S1370P |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,238,591 (GRCm39) |
D185N |
probably damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,202 (GRCm39) |
N123Y |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,442 (GRCm39) |
I89N |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,080,583 (GRCm39) |
L419P |
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 |
|
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 |
|
|
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'- CCGTCTCTCAGTTTCACTGTATGTCAAA -3'
(R):5'- ACCATAACCACGGGAAGTGCGA -3'
Sequencing Primer
(F):5'- cctccacctcccacctac -3'
(R):5'- CACGGGAAGTGCGATTTTTCAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation