Incidental Mutation 'R7366:Abcb11'
| ID |
571775 |
| 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 |
045450-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R7366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69130211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 282
(D282N)
|
| 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: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: D282N
| 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: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: D282N
| 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: D282N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: D282N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
| Validation Efficiency |
99% (94/95) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
T |
8: 73,203,303 (GRCm39) |
P244S |
possibly damaging |
Het |
| 4930562C15Rik |
A |
G |
16: 4,653,633 (GRCm39) |
I61V |
unknown |
Het |
| Acbd3 |
A |
G |
1: 180,562,064 (GRCm39) |
E181G |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,587,412 (GRCm39) |
Y43C |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,210,716 (GRCm39) |
|
probably null |
Het |
| AU018091 |
A |
T |
7: 3,206,170 (GRCm39) |
N620K |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,216 (GRCm39) |
T724K |
probably benign |
Het |
| Bmper |
T |
C |
9: 23,395,300 (GRCm39) |
I677T |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,528,162 (GRCm39) |
T686S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,887,332 (GRCm39) |
R1315L |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,339,541 (GRCm39) |
E462* |
probably null |
Het |
| Ccdc88c |
C |
A |
12: 100,911,209 (GRCm39) |
R875L |
possibly damaging |
Het |
| Cd177 |
C |
T |
7: 24,456,147 (GRCm39) |
G207D |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,471 (GRCm39) |
Y2471* |
probably null |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cmbl |
A |
T |
15: 31,590,002 (GRCm39) |
Y244F |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,919 (GRCm39) |
V448A |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,825,533 (GRCm39) |
W356R |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,228,849 (GRCm39) |
I534V |
probably benign |
Het |
| Dhtkd1 |
T |
A |
2: 5,922,717 (GRCm39) |
I481L |
probably benign |
Het |
| Dlst |
A |
T |
12: 85,175,089 (GRCm39) |
I260L |
probably benign |
Het |
| Dnajc13 |
T |
G |
9: 104,061,905 (GRCm39) |
K1350Q |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,184,943 (GRCm39) |
Y520C |
probably damaging |
Het |
| Dr1 |
C |
A |
5: 108,423,594 (GRCm39) |
A127E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,752,770 (GRCm39) |
C628R |
probably damaging |
Het |
| Edem3 |
T |
A |
1: 151,688,365 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,098,944 (GRCm39) |
|
probably null |
Het |
| Fam20a |
T |
A |
11: 109,564,168 (GRCm39) |
Q528H |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 124,007,952 (GRCm39) |
E981G |
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,985,012 (GRCm39) |
V303A |
possibly damaging |
Het |
| Flii |
C |
T |
11: 60,611,945 (GRCm39) |
V353M |
possibly damaging |
Het |
| Gm10277 |
T |
A |
11: 77,676,584 (GRCm39) |
Y129F |
unknown |
Het |
| Gm3159 |
A |
T |
14: 4,398,525 (GRCm38) |
H72L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,058,768 (GRCm39) |
T284P |
possibly damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,147 (GRCm39) |
S505P |
probably damaging |
Het |
| Gnal |
T |
C |
18: 67,344,142 (GRCm39) |
V239A |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,294,603 (GRCm39) |
E370K |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Il3 |
T |
A |
11: 54,156,709 (GRCm39) |
R93S |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,705,338 (GRCm39) |
E1573G |
unknown |
Het |
| Kif26a |
G |
A |
12: 112,129,976 (GRCm39) |
|
probably null |
Het |
| Klb |
T |
C |
5: 65,529,774 (GRCm39) |
M434T |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,314,150 (GRCm39) |
R2194W |
probably damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mak16 |
A |
G |
8: 31,656,127 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,745,192 (GRCm39) |
M1421L |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,164,580 (GRCm39) |
I1186V |
probably benign |
Het |
| Mboat1 |
T |
A |
13: 30,386,345 (GRCm39) |
C120S |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,908,962 (GRCm39) |
D117V |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,809,673 (GRCm39) |
N425K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,203,951 (GRCm39) |
|
probably null |
Het |
| Ngfr |
A |
T |
11: 95,465,255 (GRCm39) |
W198R |
possibly damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Obsl1 |
T |
C |
1: 75,479,608 (GRCm39) |
S596G |
probably damaging |
Het |
| Or2ag1 |
G |
T |
7: 106,472,603 (GRCm39) |
P283Q |
probably damaging |
Het |
| Or51g1 |
A |
T |
7: 102,633,723 (GRCm39) |
I216K |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,740 (GRCm39) |
Y272D |
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,708 (GRCm39) |
V280D |
probably damaging |
Het |
| Or6b3 |
A |
G |
1: 92,439,400 (GRCm39) |
S117P |
possibly damaging |
Het |
| Pithd1 |
T |
C |
4: 135,714,361 (GRCm39) |
Y29C |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,939,389 (GRCm39) |
T530A |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,598,952 (GRCm39) |
Y70* |
probably null |
Het |
| Ralgps1 |
T |
C |
2: 33,214,700 (GRCm39) |
M61V |
possibly damaging |
Het |
| Rbp4 |
C |
T |
19: 38,113,410 (GRCm39) |
R36H |
possibly damaging |
Het |
| Rnf125 |
A |
G |
18: 21,107,490 (GRCm39) |
N7S |
not run |
Het |
| Rpe65 |
G |
A |
3: 159,330,366 (GRCm39) |
S511N |
probably benign |
Het |
| Rspo4 |
A |
T |
2: 151,709,793 (GRCm39) |
Y66F |
probably damaging |
Het |
| Ruvbl2 |
A |
G |
7: 45,071,573 (GRCm39) |
S437P |
probably benign |
Het |
| Sele |
C |
A |
1: 163,876,288 (GRCm39) |
R12S |
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,391,451 (GRCm39) |
K139* |
probably null |
Het |
| Shroom3 |
C |
A |
5: 93,112,465 (GRCm39) |
S1942* |
probably null |
Het |
| Slc12a9 |
G |
A |
5: 137,326,885 (GRCm39) |
R191* |
probably null |
Het |
| Spag9 |
G |
T |
11: 93,999,347 (GRCm39) |
V1088L |
possibly damaging |
Het |
| Sptb |
T |
G |
12: 76,650,968 (GRCm39) |
D1669A |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,360,823 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
A |
T |
7: 14,150,254 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,907,690 (GRCm39) |
V542A |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,881,914 (GRCm39) |
|
probably null |
Het |
| Tektip1 |
T |
C |
10: 81,200,025 (GRCm39) |
D165G |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,960,241 (GRCm39) |
T1029A |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tnfaip8l1 |
C |
A |
17: 56,478,897 (GRCm39) |
N62K |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
| Trp53tg5 |
A |
G |
2: 164,313,027 (GRCm39) |
I216T |
possibly damaging |
Het |
| Tssk5 |
A |
G |
15: 76,258,713 (GRCm39) |
S58P |
probably benign |
Het |
| Ttc9b |
T |
C |
7: 27,354,384 (GRCm39) |
Y157H |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,199,871 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,266,771 (GRCm39) |
A1127T |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
T |
A |
17: 46,559,855 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Zbtb32 |
A |
C |
7: 30,289,606 (GRCm39) |
C19G |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,979 (GRCm39) |
H641L |
possibly damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,389,571 (GRCm39) |
Y210N |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,184,671 (GRCm39) |
|
probably null |
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 |
|
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'- TGCCCATCAACATTTGCCAAT -3'
(R):5'- ACCCATCTTGAACCAGCTTT -3'
Sequencing Primer
(F):5'- CCTGTTGCTCTAAATGACAGTGGATC -3'
(R):5'- ACCCATCTTGAACCAGCTTTTTCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation