Incidental Mutation 'R7544:Abcb11'
| ID |
584061 |
| 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 |
045616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R7544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69095830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 837
(K837E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102709
AA Change: K837E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: K837E
| 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 benign
Transcript: ENSMUST00000102710
AA Change: K837E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: K837E
| 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 benign
Transcript: ENSMUST00000180142
AA Change: K837E
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: K837E
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,089,765 (GRCm39) |
V40I |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,029,854 (GRCm39) |
S919P |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,431 (GRCm39) |
S530P |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,792,204 (GRCm39) |
E268G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,062,007 (GRCm39) |
L40V |
probably damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,859 (GRCm39) |
N191I |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,645,936 (GRCm39) |
T588M |
not run |
Het |
| Csmd1 |
T |
C |
8: 16,142,310 (GRCm39) |
E1531G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,283 (GRCm39) |
D398V |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,262,434 (GRCm39) |
S2901P |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,433,280 (GRCm39) |
G37S |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,026,322 (GRCm39) |
|
probably null |
Het |
| Ech1 |
T |
C |
7: 28,525,392 (GRCm39) |
V49A |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,665,271 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,772,422 (GRCm39) |
L679F |
probably benign |
Het |
| Fbf1 |
A |
T |
11: 116,056,659 (GRCm39) |
M17K |
probably benign |
Het |
| Flvcr1 |
C |
A |
1: 190,758,143 (GRCm39) |
G50W |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,382 (GRCm39) |
S1455P |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,716 (GRCm39) |
Y390H |
probably damaging |
Het |
| Gnai3 |
C |
T |
3: 108,025,702 (GRCm39) |
V126M |
|
Het |
| Gpc5 |
T |
C |
14: 115,665,585 (GRCm39) |
F470L |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,195,086 (GRCm39) |
N332S |
probably benign |
Het |
| Gtf3c5 |
T |
A |
2: 28,469,554 (GRCm39) |
I117F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,316,157 (GRCm39) |
S4350C |
probably benign |
Het |
| Kcnh4 |
G |
T |
11: 100,647,906 (GRCm39) |
H152Q |
probably benign |
Het |
| Kcnk12 |
A |
T |
17: 88,053,493 (GRCm39) |
S390T |
possibly damaging |
Het |
| Klra9 |
T |
G |
6: 130,168,183 (GRCm39) |
T28P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,988,414 (GRCm39) |
I327N |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,633,129 (GRCm39) |
V185A |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,506,274 (GRCm39) |
E1898G |
probably benign |
Het |
| Lrrc4b |
A |
T |
7: 44,111,975 (GRCm39) |
I616F |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,147,479 (GRCm39) |
E7G |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,666 (GRCm39) |
R225H |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,555,016 (GRCm39) |
M1K |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,953,948 (GRCm39) |
L868S |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,830,256 (GRCm39) |
T618M |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,194,899 (GRCm39) |
|
probably null |
Het |
| Nr2f2 |
A |
T |
7: 70,004,499 (GRCm39) |
V384D |
probably damaging |
Het |
| Or10a3b |
A |
G |
7: 108,444,528 (GRCm39) |
S230P |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,596 (GRCm39) |
L71P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,705 (GRCm39) |
I79F |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,337 (GRCm39) |
F188I |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,776 (GRCm39) |
I320L |
probably benign |
Het |
| Peg10 |
TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC |
T |
6: 4,756,427 (GRCm39) |
|
probably null |
Het |
| Pgpep1 |
C |
T |
8: 71,103,168 (GRCm39) |
G110R |
unknown |
Het |
| Pidd1 |
T |
A |
7: 141,020,252 (GRCm39) |
H558L |
possibly damaging |
Het |
| Ppp1r1a |
C |
T |
15: 103,439,776 (GRCm39) |
|
probably null |
Het |
| Pramel18 |
T |
C |
4: 101,768,599 (GRCm39) |
S317P |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,142,850 (GRCm39) |
Y451F |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,359,081 (GRCm39) |
D96G |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,203,899 (GRCm39) |
N154S |
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,553,897 (GRCm39) |
Y118H |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,509 (GRCm39) |
I209T |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,181,276 (GRCm39) |
K1835* |
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,564,915 (GRCm39) |
M298V |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,682 (GRCm39) |
N246K |
probably benign |
Het |
| Slmap |
T |
A |
14: 26,151,001 (GRCm39) |
E522D |
probably damaging |
Het |
| Slmap |
C |
T |
14: 26,151,003 (GRCm39) |
E522K |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,581,260 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,878,942 (GRCm39) |
|
probably null |
Het |
| Tet3 |
A |
T |
6: 83,381,623 (GRCm39) |
W182R |
probably damaging |
Het |
| Tmem151a |
T |
A |
19: 5,121,895 (GRCm39) |
M35L |
unknown |
Het |
| Tom1l2 |
TTGATGATG |
TTGATG |
11: 60,171,040 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
A |
T |
1: 58,960,227 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
T |
A |
8: 47,975,449 (GRCm39) |
E256D |
possibly damaging |
Het |
| Trim62 |
C |
T |
4: 128,796,346 (GRCm39) |
T281I |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,081,021 (GRCm39) |
E115G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,620,837 (GRCm39) |
T10A |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,565 (GRCm39) |
H11L |
probably damaging |
Het |
| Usp39 |
G |
A |
6: 72,319,891 (GRCm39) |
T109I |
probably damaging |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,738 (GRCm39) |
T468A |
probably benign |
Het |
| Zfhx4 |
T |
G |
3: 5,477,875 (GRCm39) |
S3497A |
probably damaging |
Het |
| Zfp85 |
C |
T |
13: 67,897,184 (GRCm39) |
R296H |
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 |
|
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 |
|
|
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'- ACATCTATGTAATATACCCCTGCTC -3'
(R):5'- CATCCTGGGCTGTGTATCAC -3'
Sequencing Primer
(F):5'- AGGTACCATCTTTGAGCCATAC -3'
(R):5'- GGGCTGTGTATCACTTTTCACAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation