Incidental Mutation 'R1856:Abcb11'
| ID |
206080 |
| 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 |
039880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R1856 (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 69076267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1147
(V1147G)
|
| 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: V1147G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: V1147G
| 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: V1147G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: V1147G
| 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: ENSMUST00000126240
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180142
AA Change: V1147G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: V1147G
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| 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: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,453 (GRCm39) |
M233L |
probably benign |
Het |
| Abca14 |
T |
G |
7: 119,877,404 (GRCm39) |
F1017L |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,617,529 (GRCm39) |
S1128C |
probably damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,923 (GRCm39) |
C432Y |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,808,397 (GRCm39) |
V318M |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,979,412 (GRCm39) |
S232Y |
possibly damaging |
Het |
| Amt |
A |
C |
9: 108,174,361 (GRCm39) |
H42P |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,501,708 (GRCm39) |
L778Q |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,777,580 (GRCm39) |
A1588T |
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,627 (GRCm39) |
L881Q |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,649,706 (GRCm39) |
S607P |
probably damaging |
Het |
| Arg2 |
G |
T |
12: 79,194,436 (GRCm39) |
V87L |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,731,323 (GRCm39) |
P869L |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,769 (GRCm39) |
D310E |
probably damaging |
Het |
| Cd6 |
A |
T |
19: 10,775,966 (GRCm39) |
D164E |
probably damaging |
Het |
| Cdan1 |
C |
A |
2: 120,555,417 (GRCm39) |
V775L |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,687,056 (GRCm39) |
|
probably null |
Het |
| Cep41 |
A |
G |
6: 30,661,005 (GRCm39) |
S61P |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,379,445 (GRCm39) |
D764E |
probably damaging |
Het |
| Cog2 |
G |
A |
8: 125,278,142 (GRCm39) |
G703S |
possibly damaging |
Het |
| Cramp1 |
T |
C |
17: 25,187,952 (GRCm39) |
D1214G |
probably damaging |
Het |
| Cst7 |
G |
T |
2: 150,419,628 (GRCm39) |
C98F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,925,484 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,904,262 (GRCm39) |
A11T |
possibly damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,003,120 (GRCm39) |
D306G |
probably damaging |
Het |
| Defb38 |
T |
A |
8: 19,073,592 (GRCm39) |
K27I |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,089 (GRCm39) |
E257G |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,185 (GRCm39) |
S58P |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,285 (GRCm39) |
D140E |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,374,057 (GRCm39) |
V172A |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,137,011 (GRCm39) |
A171T |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,986 (GRCm39) |
D284G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,776,843 (GRCm39) |
D1377G |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,183 (GRCm39) |
E2687G |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,352 (GRCm39) |
L154R |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,540 (GRCm39) |
N454S |
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,192,153 (GRCm39) |
I123L |
probably benign |
Het |
| Gucy1b1 |
A |
T |
3: 81,965,659 (GRCm39) |
N62K |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,067 (GRCm39) |
N90S |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,791,577 (GRCm39) |
L2556Q |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 106,995,542 (GRCm39) |
M1290L |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,447,284 (GRCm39) |
W337R |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,097 (GRCm39) |
Y291C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,597,415 (GRCm39) |
N1749S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,238,693 (GRCm39) |
D496G |
possibly damaging |
Het |
| Iqch |
C |
T |
9: 63,441,619 (GRCm39) |
|
probably null |
Het |
| Irf6 |
A |
G |
1: 192,849,843 (GRCm39) |
D255G |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,346,787 (GRCm39) |
G642R |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,934,312 (GRCm39) |
Y236H |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,409,914 (GRCm39) |
K208* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,670,838 (GRCm39) |
L808* |
probably null |
Het |
| Lrp5 |
C |
T |
19: 3,647,346 (GRCm39) |
A1299T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,979 (GRCm39) |
Q214R |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,263,641 (GRCm39) |
E6960V |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,156 (GRCm39) |
E120G |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,720 (GRCm39) |
T393A |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,146,508 (GRCm39) |
E1494K |
probably damaging |
Het |
| Nbas |
T |
G |
12: 13,524,230 (GRCm39) |
S1695R |
possibly damaging |
Het |
| Nlgn1 |
G |
T |
3: 25,494,201 (GRCm39) |
Y249* |
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,586,811 (GRCm39) |
L910P |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,931,122 (GRCm39) |
D5838V |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,655 (GRCm39) |
I183T |
probably benign |
Het |
| Or1j18 |
T |
C |
2: 36,624,357 (GRCm39) |
I8T |
probably benign |
Het |
| Or4c113 |
G |
A |
2: 88,885,203 (GRCm39) |
T189M |
possibly damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,892 (GRCm39) |
I140T |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,690,125 (GRCm39) |
S915Y |
possibly damaging |
Het |
| P2rx7 |
T |
A |
5: 122,819,095 (GRCm39) |
C506S |
probably damaging |
Het |
| P4hb |
T |
C |
11: 120,454,044 (GRCm39) |
E350G |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,817,379 (GRCm39) |
V606E |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,258,980 (GRCm39) |
D1576V |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,828,566 (GRCm39) |
V1402F |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,626 (GRCm39) |
T211A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,941 (GRCm39) |
R2065G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,878 (GRCm39) |
V629A |
probably benign |
Het |
| Prkcsh |
G |
A |
9: 21,915,871 (GRCm39) |
V92I |
possibly damaging |
Het |
| Prpf19 |
G |
T |
19: 10,879,780 (GRCm39) |
V320F |
probably damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,239,682 (GRCm39) |
I283F |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,447,915 (GRCm39) |
D480E |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,821,518 (GRCm39) |
C23Y |
probably damaging |
Het |
| Rnf186 |
C |
T |
4: 138,694,673 (GRCm39) |
T71I |
probably benign |
Het |
| Scyl3 |
A |
G |
1: 163,761,265 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
G |
T |
2: 112,166,272 (GRCm39) |
|
probably null |
Het |
| Slc1a2 |
C |
A |
2: 102,607,912 (GRCm39) |
S520Y |
probably damaging |
Het |
| Slc35e2 |
T |
A |
4: 155,696,186 (GRCm39) |
L191Q |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx33 |
T |
C |
9: 56,833,295 (GRCm39) |
H258R |
possibly damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,899,498 (GRCm39) |
H622L |
probably benign |
Het |
| Thbs3 |
A |
T |
3: 89,133,713 (GRCm39) |
E888D |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,124 (GRCm39) |
L159P |
probably benign |
Het |
| Tmem70 |
A |
T |
1: 16,747,497 (GRCm39) |
T205S |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,032,285 (GRCm39) |
H1001L |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,950,064 (GRCm39) |
T292A |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,849,592 (GRCm39) |
R92* |
probably null |
Het |
| Trpa1 |
G |
A |
1: 14,969,612 (GRCm39) |
Q386* |
probably null |
Het |
| Trpc4 |
T |
A |
3: 54,187,410 (GRCm39) |
V454D |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,051 (GRCm39) |
D22E |
probably benign |
Het |
| Ttk |
A |
T |
9: 83,751,316 (GRCm39) |
I798F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,977 (GRCm39) |
I17312V |
probably damaging |
Het |
| Txndc15 |
A |
T |
13: 55,865,875 (GRCm39) |
E113V |
possibly damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,448 (GRCm39) |
|
noncoding transcript |
Het |
| Urb1 |
T |
A |
16: 90,558,583 (GRCm39) |
T1723S |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,265 (GRCm39) |
V323D |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,238 (GRCm39) |
M232T |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,202,813 (GRCm39) |
S577P |
probably damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,128,949 (GRCm39) |
W397* |
probably null |
Het |
| Ypel1 |
T |
A |
16: 16,899,511 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
A |
2: 180,552,763 (GRCm39) |
D484V |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,154 (GRCm39) |
|
probably null |
Het |
| Zfp472 |
A |
T |
17: 33,184,887 (GRCm39) |
H2L |
possibly damaging |
Het |
| Zfp953 |
A |
T |
13: 67,493,422 (GRCm39) |
M74K |
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,419,151 (GRCm39) |
T61M |
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 |
|
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'- TGCTTACCTCTGGGAGTGAC -3'
(R):5'- CAGCAAAGTAATCAGTGCCAAG -3'
Sequencing Primer
(F):5'- CTTACCTCTGGGAGTGACATGAC -3'
(R):5'- GGCATAGCTGTTAGAAACAAGTTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation