Incidental Mutation 'R1944:Abcb4'
| ID |
216437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb4
|
| Ensembl Gene |
ENSMUSG00000042476 |
| Gene Name |
ATP-binding cassette, sub-family B member 4 |
| Synonyms |
mdr-2, Mdr2, Pgy2, Pgy-2 |
| MMRRC Submission |
039962-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8980796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 593
(N593Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003717
AA Change: N593Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: N593Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
54 |
342 |
2e-94 |
PFAM |
|
AAA
|
418 |
610 |
3.97e-20 |
SMART |
|
Pfam:ABC_membrane
|
708 |
982 |
6.3e-77 |
PFAM |
|
AAA
|
1058 |
1246 |
4.49e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196067
AA Change: N593Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: N593Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
54 |
344 |
2.4e-95 |
PFAM |
|
AAA
|
418 |
610 |
6.2e-22 |
SMART |
|
Pfam:ABC_membrane
|
708 |
882 |
1.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199954
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
C |
T |
13: 70,940,005 (GRCm39) |
S406N |
possibly damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,928 (GRCm39) |
V350I |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,659,030 (GRCm39) |
D2051E |
probably damaging |
Het |
| Adrb2 |
C |
A |
18: 62,312,484 (GRCm39) |
V114L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,247,520 (GRCm39) |
V599A |
probably damaging |
Het |
| AI837181 |
T |
C |
19: 5,476,257 (GRCm39) |
V140A |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,788,443 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
A |
G |
7: 83,992,959 (GRCm39) |
S194P |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,153 (GRCm39) |
N249D |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,232 (GRCm39) |
L60P |
probably damaging |
Het |
| Atp2b1 |
A |
T |
10: 98,858,793 (GRCm39) |
I1159F |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
| Bbs4 |
T |
G |
9: 59,237,698 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,210,889 (GRCm39) |
|
probably null |
Het |
| Best2 |
A |
G |
8: 85,737,390 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,583,227 (GRCm39) |
I1516T |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,599,479 (GRCm39) |
I276V |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,736,087 (GRCm39) |
S610P |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,719,745 (GRCm39) |
I375V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,101,009 (GRCm39) |
P30S |
probably damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 43,954,098 (GRCm39) |
T285K |
probably benign |
Het |
| Clk3 |
G |
T |
9: 57,672,469 (GRCm39) |
T111K |
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,586,583 (GRCm39) |
R1813C |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
| Ctrb1 |
C |
A |
8: 112,416,151 (GRCm39) |
W45L |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,283,349 (GRCm39) |
S3530C |
probably benign |
Het |
| Dio1 |
A |
G |
4: 107,163,977 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
T |
14: 67,994,584 (GRCm39) |
Y1825* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,177,001 (GRCm39) |
Q1476L |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,001,377 (GRCm39) |
H3877Q |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,434,208 (GRCm39) |
S85P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
| F11r |
T |
C |
1: 171,289,459 (GRCm39) |
Y261H |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,618 (GRCm39) |
S138T |
probably benign |
Het |
| Gpt2 |
A |
G |
8: 86,244,625 (GRCm39) |
Y306C |
probably damaging |
Het |
| Grid2 |
G |
C |
6: 63,886,045 (GRCm39) |
R147P |
probably damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,642,198 (GRCm39) |
F128L |
possibly damaging |
Het |
| H2-T15 |
A |
G |
17: 36,368,897 (GRCm39) |
F61S |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,303 (GRCm39) |
T154A |
possibly damaging |
Het |
| Heatr6 |
G |
T |
11: 83,660,046 (GRCm39) |
L530F |
probably damaging |
Het |
| Hoxd8 |
A |
T |
2: 74,537,056 (GRCm39) |
D256V |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,931,089 (GRCm39) |
N865D |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,927,084 (GRCm39) |
P277T |
possibly damaging |
Het |
| Klc4 |
T |
C |
17: 46,947,553 (GRCm39) |
N383S |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,995,908 (GRCm39) |
Y150C |
possibly damaging |
Het |
| Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
| Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
| Krt39 |
A |
C |
11: 99,410,649 (GRCm39) |
D174E |
probably damaging |
Het |
| Krt82 |
G |
A |
15: 101,456,970 (GRCm39) |
R137W |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,368,183 (GRCm39) |
S193T |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,156,442 (GRCm39) |
R300H |
probably damaging |
Het |
| Lrpap1 |
T |
A |
5: 35,254,974 (GRCm39) |
I221F |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,264,459 (GRCm39) |
D4883G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,973,524 (GRCm39) |
V485A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,859 (GRCm39) |
T831A |
probably benign |
Het |
| Mdfic2 |
A |
G |
6: 98,225,151 (GRCm39) |
I44T |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,340,523 (GRCm39) |
D471E |
possibly damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,623 (GRCm39) |
F268L |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,950,422 (GRCm39) |
E58G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,466,840 (GRCm39) |
S1308C |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,391 (GRCm39) |
N1817S |
probably damaging |
Het |
| Ndel1 |
A |
T |
11: 68,720,746 (GRCm39) |
H313Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,118,862 (GRCm39) |
H3931Q |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,491 (GRCm39) |
V253E |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
| Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,448,774 (GRCm39) |
T155A |
probably benign |
Het |
| Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
T |
13: 21,887,287 (GRCm39) |
I39F |
possibly damaging |
Het |
| Pdap1 |
G |
A |
5: 145,069,726 (GRCm39) |
T93I |
probably benign |
Het |
| Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
| Pdha1 |
T |
A |
X: 158,910,354 (GRCm39) |
D255V |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,537,796 (GRCm39) |
D64E |
probably benign |
Het |
| Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
| Rbm15 |
C |
T |
3: 107,238,868 (GRCm39) |
R510H |
probably damaging |
Het |
| Rgs7 |
A |
T |
1: 174,980,769 (GRCm39) |
M85K |
possibly damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,669 (GRCm39) |
V13D |
probably damaging |
Het |
| Rtp2 |
T |
A |
16: 23,746,316 (GRCm39) |
D105V |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
| Slc30a6 |
T |
G |
17: 74,715,858 (GRCm39) |
V106G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,785,276 (GRCm39) |
I105V |
probably benign |
Het |
| Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,318 (GRCm39) |
V5928A |
probably damaging |
Het |
| Tbr1 |
T |
A |
2: 61,642,600 (GRCm39) |
S622T |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,871,889 (GRCm39) |
N306D |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,860,828 (GRCm39) |
*1098Q |
probably null |
Het |
| Tmem140 |
T |
C |
6: 34,849,747 (GRCm39) |
Y88H |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Vamp3 |
A |
G |
4: 151,140,617 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
C |
17: 21,481,785 (GRCm39) |
T37P |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,129,571 (GRCm39) |
L821V |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,160,500 (GRCm39) |
D545G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
| Wtip |
A |
T |
7: 33,818,363 (GRCm39) |
M268K |
probably benign |
Het |
| Zfhx2 |
G |
T |
14: 55,312,189 (GRCm39) |
F168L |
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,637,767 (GRCm39) |
R53K |
probably damaging |
Het |
|
| Other mutations in Abcb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Abcb4
|
APN |
5 |
9,000,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00663:Abcb4
|
APN |
5 |
8,977,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00671:Abcb4
|
APN |
5 |
8,980,745 (GRCm39) |
nonsense |
probably null |
|
|
IGL00822:Abcb4
|
APN |
5 |
9,000,046 (GRCm39) |
missense |
probably benign |
|
|
IGL01080:Abcb4
|
APN |
5 |
8,984,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Abcb4
|
APN |
5 |
9,000,678 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01329:Abcb4
|
APN |
5 |
8,944,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01483:Abcb4
|
APN |
5 |
8,977,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01594:Abcb4
|
APN |
5 |
8,996,071 (GRCm39) |
splice site |
probably null |
|
|
IGL01785:Abcb4
|
APN |
5 |
8,965,058 (GRCm39) |
nonsense |
probably null |
|
|
IGL01968:Abcb4
|
APN |
5 |
8,977,913 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02579:Abcb4
|
APN |
5 |
9,005,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02654:Abcb4
|
APN |
5 |
8,977,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02658:Abcb4
|
APN |
5 |
8,984,240 (GRCm39) |
missense |
probably benign |
|
|
IGL03229:Abcb4
|
APN |
5 |
8,990,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03335:Abcb4
|
APN |
5 |
8,985,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:Abcb4
|
UTSW |
5 |
8,946,597 (GRCm39) |
small deletion |
probably benign |
|
|
P0014:Abcb4
|
UTSW |
5 |
9,000,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:Abcb4
|
UTSW |
5 |
8,989,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0311:Abcb4
|
UTSW |
5 |
8,984,243 (GRCm39) |
missense |
probably benign |
|
|
R0420:Abcb4
|
UTSW |
5 |
8,991,050 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0449:Abcb4
|
UTSW |
5 |
8,989,885 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Abcb4
|
UTSW |
5 |
8,997,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1459:Abcb4
|
UTSW |
5 |
8,968,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1812:Abcb4
|
UTSW |
5 |
8,978,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2002:Abcb4
|
UTSW |
5 |
8,955,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2256:Abcb4
|
UTSW |
5 |
9,008,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Abcb4
|
UTSW |
5 |
8,946,610 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4112:Abcb4
|
UTSW |
5 |
8,986,783 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4354:Abcb4
|
UTSW |
5 |
8,968,771 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4512:Abcb4
|
UTSW |
5 |
8,978,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Abcb4
|
UTSW |
5 |
8,997,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4628:Abcb4
|
UTSW |
5 |
8,957,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4708:Abcb4
|
UTSW |
5 |
8,965,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4714:Abcb4
|
UTSW |
5 |
8,980,906 (GRCm39) |
splice site |
probably null |
|
|
R4754:Abcb4
|
UTSW |
5 |
8,960,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Abcb4
|
UTSW |
5 |
8,985,180 (GRCm39) |
missense |
probably benign |
|
|
R4896:Abcb4
|
UTSW |
5 |
8,957,267 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4944:Abcb4
|
UTSW |
5 |
8,984,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4994:Abcb4
|
UTSW |
5 |
8,978,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Abcb4
|
UTSW |
5 |
8,959,054 (GRCm39) |
splice site |
probably null |
|
|
R5537:Abcb4
|
UTSW |
5 |
9,005,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Abcb4
|
UTSW |
5 |
8,984,320 (GRCm39) |
missense |
probably benign |
|
|
R5833:Abcb4
|
UTSW |
5 |
9,008,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Abcb4
|
UTSW |
5 |
8,980,806 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6006:Abcb4
|
UTSW |
5 |
8,996,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6146:Abcb4
|
UTSW |
5 |
8,946,587 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6183:Abcb4
|
UTSW |
5 |
8,968,718 (GRCm39) |
missense |
probably benign |
|
|
R6260:Abcb4
|
UTSW |
5 |
8,984,219 (GRCm39) |
nonsense |
probably null |
|
|
R6561:Abcb4
|
UTSW |
5 |
8,977,825 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7016:Abcb4
|
UTSW |
5 |
8,986,843 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7081:Abcb4
|
UTSW |
5 |
8,984,263 (GRCm39) |
missense |
probably benign |
|
|
R7326:Abcb4
|
UTSW |
5 |
8,984,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7375:Abcb4
|
UTSW |
5 |
8,968,671 (GRCm39) |
missense |
probably benign |
|
|
R7787:Abcb4
|
UTSW |
5 |
8,959,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Abcb4
|
UTSW |
5 |
8,984,203 (GRCm39) |
missense |
probably benign |
|
|
R8128:Abcb4
|
UTSW |
5 |
9,008,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Abcb4
|
UTSW |
5 |
8,978,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8438:Abcb4
|
UTSW |
5 |
8,996,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8447:Abcb4
|
UTSW |
5 |
8,957,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8710:Abcb4
|
UTSW |
5 |
9,005,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8777-TAIL:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8837:Abcb4
|
UTSW |
5 |
8,986,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8987:Abcb4
|
UTSW |
5 |
8,977,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9098:Abcb4
|
UTSW |
5 |
9,008,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Abcb4
|
UTSW |
5 |
8,986,849 (GRCm39) |
nonsense |
probably null |
|
|
R9210:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Abcb4
|
UTSW |
5 |
8,977,960 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9242:Abcb4
|
UTSW |
5 |
8,949,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Abcb4
|
UTSW |
5 |
9,008,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Abcb4
|
UTSW |
5 |
8,977,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Abcb4
|
UTSW |
5 |
8,946,594 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Abcb4
|
UTSW |
5 |
8,946,595 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Abcb4
|
UTSW |
5 |
9,009,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abcb4
|
UTSW |
5 |
8,989,906 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGTCACTTTCTCACCGC -3'
(R):5'- TTTAATGCCTCATCCTAGTCATGG -3'
Sequencing Primer
(F):5'- TCACCGCTGCTTGCAAG -3'
(R):5'- ATGGTTTCTTTGTATACCATCAGCTG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation