Incidental Mutation 'R8711:Abcb11'
| ID |
669546 |
| 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 |
068565-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R8711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69095856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 828
(T828I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102709
AA Change: T828I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: T828I
| 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: T828I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: T828I
| 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: T828I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: T828I
| 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 |
99% (70/71) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,969,120 (GRCm39) |
S122T |
probably benign |
Het |
| Atp5f1b |
T |
A |
10: 127,921,369 (GRCm39) |
N222K |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,313 (GRCm39) |
T211A |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,384,146 (GRCm39) |
S410T |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,100,485 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,824 (GRCm39) |
K265N |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,529,660 (GRCm39) |
M237K |
possibly damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,962 (GRCm39) |
|
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,135 (GRCm39) |
F90L |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,214,598 (GRCm39) |
D1121G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,859 (GRCm39) |
E84D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,743,371 (GRCm39) |
I2187V |
probably benign |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,130 (GRCm39) |
D143V |
unknown |
Het |
| Eif4g2 |
T |
C |
7: 110,673,127 (GRCm39) |
Y855C |
probably damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,709,944 (GRCm39) |
D371G |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,159,129 (GRCm39) |
S3348P |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,684,924 (GRCm39) |
N472Y |
probably benign |
Het |
| Flad1 |
A |
G |
3: 89,316,415 (GRCm39) |
V49A |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,554 (GRCm39) |
T196A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,815,246 (GRCm39) |
N3660D |
possibly damaging |
Het |
| Gabrp |
T |
A |
11: 33,505,023 (GRCm39) |
L259F |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,473 (GRCm39) |
W119R |
unknown |
Het |
| Gng2 |
C |
T |
14: 19,941,438 (GRCm39) |
M1I |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,290,721 (GRCm39) |
N384S |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,606,208 (GRCm39) |
I440V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,767,539 (GRCm39) |
D297G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,928,496 (GRCm39) |
I726V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,867,996 (GRCm39) |
N56S |
probably benign |
Het |
| Laptm4b |
T |
A |
15: 34,277,648 (GRCm39) |
V193E |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,388,350 (GRCm39) |
C2358* |
probably null |
Het |
| Ltbp2 |
C |
T |
12: 84,900,515 (GRCm39) |
S269N |
probably benign |
Het |
| Morc2a |
T |
G |
11: 3,630,013 (GRCm39) |
Y450D |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,407,430 (GRCm39) |
I2740K |
probably benign |
Het |
| Naif1 |
T |
A |
2: 32,344,848 (GRCm39) |
V184E |
probably damaging |
Het |
| Neurl1b |
T |
C |
17: 26,660,747 (GRCm39) |
V540A |
probably damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,431,450 (GRCm39) |
F451Y |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,148 (GRCm39) |
S174P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,951,894 (GRCm39) |
E3953G |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,440,291 (GRCm39) |
S52A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,595 (GRCm39) |
C136S |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,815,550 (GRCm39) |
H1904Y |
|
Het |
| Plec |
C |
T |
15: 76,059,531 (GRCm39) |
D3469N |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,943,064 (GRCm39) |
T20A |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,286 (GRCm39) |
E404K |
possibly damaging |
Het |
| Prkce |
T |
A |
17: 86,795,625 (GRCm39) |
N287K |
probably damaging |
Het |
| Rchy1 |
C |
A |
5: 92,105,397 (GRCm39) |
C108F |
probably damaging |
Het |
| Scpppq1 |
G |
A |
5: 104,219,956 (GRCm39) |
T78I |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,502,232 (GRCm39) |
Y572C |
possibly damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,783,030 (GRCm39) |
I248K |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,026 (GRCm39) |
L30P |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,313 (GRCm39) |
G106S |
probably damaging |
Het |
| Slc43a2 |
A |
C |
11: 75,457,879 (GRCm39) |
M385L |
probably benign |
Het |
| Slc43a3 |
A |
G |
2: 84,768,671 (GRCm39) |
T97A |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,030,351 (GRCm39) |
S223T |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,243,058 (GRCm39) |
C118S |
probably damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,472,491 (GRCm39) |
D94G |
probably damaging |
Het |
| Spred3 |
A |
G |
7: 28,866,086 (GRCm39) |
V71A |
possibly damaging |
Het |
| Srsf5 |
T |
A |
12: 80,994,328 (GRCm39) |
S86T |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 177,990,088 (GRCm39) |
V1386A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,104,258 (GRCm39) |
L743P |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,806,971 (GRCm39) |
V62A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,047,578 (GRCm39) |
L637P |
probably damaging |
Het |
| Tcf12 |
T |
G |
9: 71,757,097 (GRCm39) |
S697R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,508 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Trav5n-4 |
T |
C |
14: 53,550,362 (GRCm39) |
M1T |
probably null |
Het |
| Trbv13-2 |
A |
G |
6: 41,098,716 (GRCm39) |
E97G |
probably benign |
Het |
| Trpa1 |
G |
A |
1: 14,980,998 (GRCm39) |
P135S |
probably damaging |
Het |
| Ugt1a6a |
A |
C |
1: 88,066,590 (GRCm39) |
D132A |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,962 (GRCm39) |
D548E |
possibly damaging |
Het |
| Zbtb39 |
A |
T |
10: 127,578,815 (GRCm39) |
D463V |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,037,858 (GRCm39) |
|
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,004 (GRCm39) |
P161L |
possibly 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 |
|
|
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 |
|
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'- GTGTTCTACAGTACGAACATCTATG -3'
(R):5'- GTCATCCTGGGCTGTGTATC -3'
Sequencing Primer
(F):5'- AGGTACCATCTTTGAGCCATAC -3'
(R):5'- GGGCTGTGTATCACTTTTCACAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation