Incidental Mutation 'R5568:Abcc9'
ID |
437015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc9
|
Ensembl Gene |
ENSMUSG00000030249 |
Gene Name |
ATP-binding cassette, sub-family C member 9 |
Synonyms |
SUR2A, Sur2, SUR2B |
MMRRC Submission |
043125-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R5568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142634742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 174
(V174G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000204870]
[ENSMUST00000205202]
|
AlphaFold |
P70170 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073173
AA Change: V174G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000072914 Gene: ENSMUSG00000030249 AA Change: V174G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
297 |
583 |
7.7e-33 |
PFAM |
AAA
|
659 |
867 |
3.11e-13 |
SMART |
coiled coil region
|
881 |
935 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
956 |
1228 |
6.6e-35 |
PFAM |
AAA
|
1300 |
1502 |
9.94e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087527
AA Change: V174G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000084805 Gene: ENSMUSG00000030249 AA Change: V174G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
297 |
583 |
8e-33 |
PFAM |
AAA
|
694 |
902 |
3.11e-13 |
SMART |
coiled coil region
|
916 |
970 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
991 |
1263 |
6.8e-35 |
PFAM |
AAA
|
1335 |
1537 |
9.94e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100827
AA Change: V174G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098390 Gene: ENSMUSG00000030249 AA Change: V174G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
297 |
583 |
7.1e-35 |
PFAM |
AAA
|
694 |
902 |
3.11e-13 |
SMART |
coiled coil region
|
916 |
970 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
991 |
1263 |
5.2e-38 |
PFAM |
AAA
|
1335 |
1520 |
5.13e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111771
AA Change: V174G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107401 Gene: ENSMUSG00000030249 AA Change: V174G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
297 |
583 |
1.4e-32 |
PFAM |
AAA
|
694 |
889 |
3.77e-12 |
SMART |
coiled coil region
|
903 |
957 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
978 |
1250 |
1.2e-34 |
PFAM |
AAA
|
1322 |
1524 |
9.94e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204870
|
SMART Domains |
Protein: ENSMUSP00000145489 Gene: ENSMUSG00000030249
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205202
AA Change: V174G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144779 Gene: ENSMUSG00000030249 AA Change: V174G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
297 |
583 |
6.9e-35 |
PFAM |
AAA
|
659 |
867 |
3.11e-13 |
SMART |
coiled coil region
|
881 |
935 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
956 |
1228 |
5e-38 |
PFAM |
AAA
|
1300 |
1502 |
9.94e-12 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
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 MRP subfamily which is involved in multi-drug resistance. The human protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
C |
4: 144,349,364 (GRCm39) |
V207A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,614,834 (GRCm39) |
|
probably null |
Het |
Abl1 |
C |
T |
2: 31,669,086 (GRCm39) |
A155V |
probably damaging |
Het |
Aco2 |
T |
A |
15: 81,787,787 (GRCm39) |
D212E |
probably damaging |
Het |
Adam26b |
A |
T |
8: 43,973,529 (GRCm39) |
M491K |
probably benign |
Het |
Anapc5 |
G |
A |
5: 122,929,988 (GRCm39) |
|
probably benign |
Het |
Atf7 |
A |
G |
15: 102,471,757 (GRCm39) |
I46T |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,497,612 (GRCm39) |
S2100P |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,775,137 (GRCm39) |
D501V |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,866,433 (GRCm39) |
M748V |
probably damaging |
Het |
Cd300c2 |
T |
C |
11: 114,891,662 (GRCm39) |
T71A |
probably damaging |
Het |
Chmp2a |
T |
C |
7: 12,767,758 (GRCm39) |
M56V |
probably benign |
Het |
Cilp |
A |
C |
9: 65,187,515 (GRCm39) |
R1203S |
probably benign |
Het |
Clp1 |
T |
A |
2: 84,556,322 (GRCm39) |
K53* |
probably null |
Het |
Crhbp |
T |
A |
13: 95,578,737 (GRCm39) |
D128V |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,820,495 (GRCm39) |
I292N |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,677,526 (GRCm39) |
I488N |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,456 (GRCm39) |
M149L |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,390,547 (GRCm39) |
Q59L |
possibly damaging |
Het |
Ddx27 |
A |
G |
2: 166,871,439 (GRCm39) |
H512R |
possibly damaging |
Het |
Dlgap4 |
T |
A |
2: 156,604,821 (GRCm39) |
*993K |
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,330,643 (GRCm39) |
|
probably null |
Het |
Dus4l |
A |
T |
12: 31,696,712 (GRCm39) |
F88L |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,904,071 (GRCm39) |
V176E |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,288,219 (GRCm39) |
K435* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,816,908 (GRCm39) |
C4214R |
probably benign |
Het |
Garin5a |
T |
G |
7: 44,150,428 (GRCm39) |
S207A |
probably damaging |
Het |
Gfral |
T |
C |
9: 76,072,087 (GRCm39) |
*394W |
probably null |
Het |
Glis1 |
T |
C |
4: 107,476,832 (GRCm39) |
S518P |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,079 (GRCm39) |
|
probably null |
Het |
Hsbp1l1 |
T |
C |
18: 80,278,679 (GRCm39) |
T35A |
possibly damaging |
Het |
Ighv5-12 |
A |
G |
12: 113,665,837 (GRCm39) |
F87S |
probably damaging |
Het |
Ints13 |
A |
C |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
Kbtbd12 |
C |
T |
6: 88,595,609 (GRCm39) |
D74N |
probably damaging |
Het |
Klrb1c |
A |
G |
6: 128,765,877 (GRCm39) |
|
probably benign |
Het |
Kmt5b |
A |
T |
19: 3,836,538 (GRCm39) |
H25L |
probably benign |
Het |
Krt28 |
A |
T |
11: 99,262,210 (GRCm39) |
M260K |
probably damaging |
Het |
Krt79 |
A |
G |
15: 101,838,220 (GRCm39) |
S512P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,075,293 (GRCm39) |
|
probably null |
Het |
Maneal |
T |
C |
4: 124,750,937 (GRCm39) |
E273G |
possibly damaging |
Het |
Map4k3 |
T |
A |
17: 80,971,427 (GRCm39) |
Y80F |
possibly damaging |
Het |
Mbd6 |
A |
G |
10: 127,119,297 (GRCm39) |
V946A |
possibly damaging |
Het |
Mfsd14b |
A |
T |
13: 65,219,936 (GRCm39) |
|
probably null |
Het |
Mrpl46 |
C |
G |
7: 78,430,242 (GRCm39) |
W176S |
probably damaging |
Het |
Muc19 |
A |
G |
15: 91,768,468 (GRCm39) |
|
noncoding transcript |
Het |
Mup3 |
T |
G |
4: 62,002,809 (GRCm39) |
E184A |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,781,911 (GRCm39) |
H1699R |
probably benign |
Het |
Ndrg2 |
T |
A |
14: 52,144,420 (GRCm39) |
T269S |
probably damaging |
Het |
Nfatc1 |
A |
T |
18: 80,693,037 (GRCm39) |
V688D |
probably benign |
Het |
Ninj2 |
T |
C |
6: 120,175,670 (GRCm39) |
I101T |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,224,510 (GRCm39) |
L296I |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,983 (GRCm39) |
L28P |
probably benign |
Het |
Or52r1b |
G |
T |
7: 102,691,517 (GRCm39) |
R272L |
possibly damaging |
Het |
Pacsin1 |
T |
A |
17: 27,927,022 (GRCm39) |
D242E |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,330,420 (GRCm39) |
Y861C |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,443 (GRCm39) |
L54P |
probably damaging |
Het |
Pcdhb18 |
T |
A |
18: 37,624,853 (GRCm39) |
S728T |
probably benign |
Het |
Phyhd1 |
T |
A |
2: 30,167,022 (GRCm39) |
H108Q |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 135,212,513 (GRCm39) |
I1035F |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,735,309 (GRCm39) |
S217P |
possibly damaging |
Het |
Plppr2 |
G |
A |
9: 21,852,425 (GRCm39) |
R103H |
probably damaging |
Het |
Plxnb2 |
G |
A |
15: 89,041,638 (GRCm39) |
T1722I |
probably damaging |
Het |
Pole3 |
T |
C |
4: 62,442,668 (GRCm39) |
N53S |
probably damaging |
Het |
Ptk6 |
A |
T |
2: 180,841,488 (GRCm39) |
N140K |
possibly damaging |
Het |
Rab12 |
C |
T |
17: 66,804,418 (GRCm39) |
R180H |
probably damaging |
Het |
Rab36 |
G |
T |
10: 74,888,311 (GRCm39) |
V252L |
probably benign |
Het |
Ranbp3 |
T |
C |
17: 57,008,543 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
G |
3: 79,011,308 (GRCm39) |
L259P |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,222,140 (GRCm39) |
M380L |
probably benign |
Het |
Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
Scd2 |
T |
C |
19: 44,288,142 (GRCm39) |
F178S |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,356,250 (GRCm39) |
S87P |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,194,823 (GRCm39) |
D834V |
probably damaging |
Het |
Sorcs2 |
A |
C |
5: 36,203,874 (GRCm39) |
Y540* |
probably null |
Het |
Srpk2 |
T |
A |
5: 23,730,697 (GRCm39) |
Q274L |
possibly damaging |
Het |
Stradb |
T |
A |
1: 59,031,901 (GRCm39) |
M271K |
possibly damaging |
Het |
Tfec |
T |
A |
6: 16,867,592 (GRCm39) |
Q16L |
possibly damaging |
Het |
Tfg |
T |
C |
16: 56,521,450 (GRCm39) |
T63A |
probably benign |
Het |
Ticrr |
G |
A |
7: 79,339,715 (GRCm39) |
|
probably null |
Het |
Ticrr |
T |
A |
7: 79,345,044 (GRCm39) |
C1636* |
probably null |
Het |
Tln2 |
A |
G |
9: 67,219,147 (GRCm39) |
I266T |
probably damaging |
Het |
Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,065,777 (GRCm39) |
E138G |
probably damaging |
Het |
Tpm2 |
C |
A |
4: 43,522,692 (GRCm39) |
E75* |
probably null |
Het |
Ttn |
T |
G |
2: 76,580,922 (GRCm39) |
T23324P |
probably damaging |
Het |
Ubr4 |
T |
G |
4: 139,119,349 (GRCm39) |
L176R |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,016,488 (GRCm39) |
D46Y |
probably damaging |
Het |
Ulbp1 |
A |
C |
10: 7,423,281 (GRCm39) |
S21A |
unknown |
Het |
Usp17lb |
C |
T |
7: 104,490,415 (GRCm39) |
G170R |
probably damaging |
Het |
Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,790 (GRCm39) |
E2918V |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,919 (GRCm39) |
I195K |
probably damaging |
Het |
Vmn1r76 |
C |
T |
7: 11,665,062 (GRCm39) |
V16I |
probably benign |
Het |
Xdh |
T |
C |
17: 74,250,880 (GRCm39) |
D24G |
possibly damaging |
Het |
Xylb |
T |
A |
9: 119,190,198 (GRCm39) |
H68Q |
probably benign |
Het |
|
Other mutations in Abcc9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Abcc9
|
APN |
6 |
142,578,916 (GRCm39) |
splice site |
probably benign |
|
IGL00670:Abcc9
|
APN |
6 |
142,633,007 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00675:Abcc9
|
APN |
6 |
142,610,347 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00741:Abcc9
|
APN |
6 |
142,632,956 (GRCm39) |
missense |
probably benign |
|
IGL01371:Abcc9
|
APN |
6 |
142,602,340 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01686:Abcc9
|
APN |
6 |
142,548,801 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01724:Abcc9
|
APN |
6 |
142,610,259 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01807:Abcc9
|
APN |
6 |
142,551,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01941:Abcc9
|
APN |
6 |
142,551,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01946:Abcc9
|
APN |
6 |
142,571,763 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02210:Abcc9
|
APN |
6 |
142,633,097 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02498:Abcc9
|
APN |
6 |
142,617,265 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02535:Abcc9
|
APN |
6 |
142,574,152 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02552:Abcc9
|
APN |
6 |
142,551,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02812:Abcc9
|
APN |
6 |
142,643,516 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02954:Abcc9
|
APN |
6 |
142,592,007 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03035:Abcc9
|
APN |
6 |
142,573,319 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03040:Abcc9
|
APN |
6 |
142,598,323 (GRCm39) |
nonsense |
probably null |
|
IGL03100:Abcc9
|
APN |
6 |
142,640,270 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03157:Abcc9
|
APN |
6 |
142,551,649 (GRCm39) |
splice site |
probably benign |
|
R0054:Abcc9
|
UTSW |
6 |
142,547,500 (GRCm39) |
critical splice donor site |
probably null |
|
R0054:Abcc9
|
UTSW |
6 |
142,547,500 (GRCm39) |
critical splice donor site |
probably null |
|
R0084:Abcc9
|
UTSW |
6 |
142,604,277 (GRCm39) |
missense |
probably damaging |
0.97 |
R0211:Abcc9
|
UTSW |
6 |
142,634,710 (GRCm39) |
missense |
probably benign |
0.01 |
R0349:Abcc9
|
UTSW |
6 |
142,610,351 (GRCm39) |
missense |
probably benign |
0.00 |
R0387:Abcc9
|
UTSW |
6 |
142,585,230 (GRCm39) |
nonsense |
probably null |
|
R0393:Abcc9
|
UTSW |
6 |
142,591,604 (GRCm39) |
splice site |
probably benign |
|
R0528:Abcc9
|
UTSW |
6 |
142,638,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0588:Abcc9
|
UTSW |
6 |
142,548,787 (GRCm39) |
nonsense |
probably null |
|
R0646:Abcc9
|
UTSW |
6 |
142,627,830 (GRCm39) |
missense |
probably benign |
0.05 |
R0691:Abcc9
|
UTSW |
6 |
142,584,979 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0881:Abcc9
|
UTSW |
6 |
142,592,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R1264:Abcc9
|
UTSW |
6 |
142,592,103 (GRCm39) |
splice site |
probably benign |
|
R1340:Abcc9
|
UTSW |
6 |
142,628,581 (GRCm39) |
splice site |
probably benign |
|
R1413:Abcc9
|
UTSW |
6 |
142,573,245 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1413:Abcc9
|
UTSW |
6 |
142,536,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Abcc9
|
UTSW |
6 |
142,610,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Abcc9
|
UTSW |
6 |
142,578,821 (GRCm39) |
missense |
probably benign |
0.02 |
R1670:Abcc9
|
UTSW |
6 |
142,540,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1769:Abcc9
|
UTSW |
6 |
142,573,194 (GRCm39) |
splice site |
probably benign |
|
R1888:Abcc9
|
UTSW |
6 |
142,625,040 (GRCm39) |
missense |
probably benign |
|
R1888:Abcc9
|
UTSW |
6 |
142,625,040 (GRCm39) |
missense |
probably benign |
|
R1918:Abcc9
|
UTSW |
6 |
142,643,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Abcc9
|
UTSW |
6 |
142,617,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R2019:Abcc9
|
UTSW |
6 |
142,621,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R2698:Abcc9
|
UTSW |
6 |
142,578,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2860:Abcc9
|
UTSW |
6 |
142,571,736 (GRCm39) |
missense |
probably benign |
0.01 |
R2861:Abcc9
|
UTSW |
6 |
142,571,736 (GRCm39) |
missense |
probably benign |
0.01 |
R2980:Abcc9
|
UTSW |
6 |
142,633,034 (GRCm39) |
missense |
probably benign |
0.00 |
R3115:Abcc9
|
UTSW |
6 |
142,634,755 (GRCm39) |
missense |
probably benign |
0.08 |
R3617:Abcc9
|
UTSW |
6 |
142,625,015 (GRCm39) |
missense |
probably damaging |
0.97 |
R3880:Abcc9
|
UTSW |
6 |
142,584,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4063:Abcc9
|
UTSW |
6 |
142,551,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4065:Abcc9
|
UTSW |
6 |
142,591,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Abcc9
|
UTSW |
6 |
142,539,738 (GRCm39) |
missense |
probably benign |
0.08 |
R4538:Abcc9
|
UTSW |
6 |
142,560,138 (GRCm39) |
critical splice donor site |
probably null |
|
R4615:Abcc9
|
UTSW |
6 |
142,634,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4659:Abcc9
|
UTSW |
6 |
142,618,321 (GRCm39) |
splice site |
probably null |
|
R4774:Abcc9
|
UTSW |
6 |
142,585,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Abcc9
|
UTSW |
6 |
142,566,456 (GRCm39) |
nonsense |
probably null |
|
R4832:Abcc9
|
UTSW |
6 |
142,617,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Abcc9
|
UTSW |
6 |
142,634,824 (GRCm39) |
missense |
probably benign |
0.09 |
R4903:Abcc9
|
UTSW |
6 |
142,546,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Abcc9
|
UTSW |
6 |
142,536,162 (GRCm39) |
missense |
probably benign |
|
R4960:Abcc9
|
UTSW |
6 |
142,566,509 (GRCm39) |
splice site |
probably null |
|
R4983:Abcc9
|
UTSW |
6 |
142,627,867 (GRCm39) |
missense |
probably benign |
0.44 |
R4986:Abcc9
|
UTSW |
6 |
142,573,317 (GRCm39) |
missense |
probably benign |
0.00 |
R5060:Abcc9
|
UTSW |
6 |
142,571,836 (GRCm39) |
intron |
probably benign |
|
R5120:Abcc9
|
UTSW |
6 |
142,602,344 (GRCm39) |
missense |
probably benign |
0.00 |
R5198:Abcc9
|
UTSW |
6 |
142,571,726 (GRCm39) |
missense |
probably benign |
0.00 |
R5301:Abcc9
|
UTSW |
6 |
142,536,207 (GRCm39) |
missense |
probably benign |
0.41 |
R5328:Abcc9
|
UTSW |
6 |
142,627,785 (GRCm39) |
missense |
probably benign |
0.25 |
R5654:Abcc9
|
UTSW |
6 |
142,571,371 (GRCm39) |
intron |
probably benign |
|
R5694:Abcc9
|
UTSW |
6 |
142,546,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R5734:Abcc9
|
UTSW |
6 |
142,571,457 (GRCm39) |
intron |
probably benign |
|
R5774:Abcc9
|
UTSW |
6 |
142,574,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R5802:Abcc9
|
UTSW |
6 |
142,602,402 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5890:Abcc9
|
UTSW |
6 |
142,550,554 (GRCm39) |
critical splice donor site |
probably null |
|
R5946:Abcc9
|
UTSW |
6 |
142,571,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R5971:Abcc9
|
UTSW |
6 |
142,585,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6078:Abcc9
|
UTSW |
6 |
142,585,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6392:Abcc9
|
UTSW |
6 |
142,627,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R6400:Abcc9
|
UTSW |
6 |
142,638,435 (GRCm39) |
makesense |
probably null |
|
R6478:Abcc9
|
UTSW |
6 |
142,625,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Abcc9
|
UTSW |
6 |
142,550,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R6564:Abcc9
|
UTSW |
6 |
142,548,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Abcc9
|
UTSW |
6 |
142,633,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6902:Abcc9
|
UTSW |
6 |
142,624,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6946:Abcc9
|
UTSW |
6 |
142,624,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Abcc9
|
UTSW |
6 |
142,634,707 (GRCm39) |
missense |
probably damaging |
0.97 |
R7052:Abcc9
|
UTSW |
6 |
142,604,261 (GRCm39) |
missense |
probably benign |
0.00 |
R7062:Abcc9
|
UTSW |
6 |
142,544,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Abcc9
|
UTSW |
6 |
142,634,853 (GRCm39) |
nonsense |
probably null |
|
R7284:Abcc9
|
UTSW |
6 |
142,628,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Abcc9
|
UTSW |
6 |
142,617,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7353:Abcc9
|
UTSW |
6 |
142,546,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Abcc9
|
UTSW |
6 |
142,617,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Abcc9
|
UTSW |
6 |
142,598,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7894:Abcc9
|
UTSW |
6 |
142,539,733 (GRCm39) |
makesense |
probably null |
|
R8095:Abcc9
|
UTSW |
6 |
142,590,048 (GRCm39) |
missense |
probably benign |
0.22 |
R8099:Abcc9
|
UTSW |
6 |
142,621,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Abcc9
|
UTSW |
6 |
142,539,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8355:Abcc9
|
UTSW |
6 |
142,638,478 (GRCm39) |
missense |
probably benign |
0.00 |
R8356:Abcc9
|
UTSW |
6 |
142,536,096 (GRCm39) |
missense |
probably benign |
0.06 |
R8365:Abcc9
|
UTSW |
6 |
142,544,798 (GRCm39) |
missense |
probably benign |
0.03 |
R8846:Abcc9
|
UTSW |
6 |
142,551,610 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8886:Abcc9
|
UTSW |
6 |
142,546,420 (GRCm39) |
intron |
probably benign |
|
R8939:Abcc9
|
UTSW |
6 |
142,624,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R9049:Abcc9
|
UTSW |
6 |
142,628,658 (GRCm39) |
missense |
probably damaging |
0.99 |
R9113:Abcc9
|
UTSW |
6 |
142,591,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Abcc9
|
UTSW |
6 |
142,640,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9401:Abcc9
|
UTSW |
6 |
142,543,836 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9407:Abcc9
|
UTSW |
6 |
142,574,229 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9597:Abcc9
|
UTSW |
6 |
142,578,813 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9600:Abcc9
|
UTSW |
6 |
142,536,102 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9687:Abcc9
|
UTSW |
6 |
142,578,889 (GRCm39) |
missense |
probably benign |
0.00 |
R9698:Abcc9
|
UTSW |
6 |
142,571,757 (GRCm39) |
missense |
probably benign |
|
R9761:Abcc9
|
UTSW |
6 |
142,544,854 (GRCm39) |
missense |
possibly damaging |
0.78 |
U15987:Abcc9
|
UTSW |
6 |
142,585,301 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcc9
|
UTSW |
6 |
142,591,664 (GRCm39) |
missense |
probably null |
0.96 |
Z1177:Abcc9
|
UTSW |
6 |
142,571,708 (GRCm39) |
missense |
probably benign |
0.07 |
Z1177:Abcc9
|
UTSW |
6 |
142,540,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTACACACATAGATCGCATATCCTC -3'
(R):5'- TTCCCATTGAAGACATTGTCCGC -3'
Sequencing Primer
(F):5'- TAGATCGCATATCCTCCCCCAC -3'
(R):5'- CCATTGAAGACATTGTCCGCAAATG -3'
|
Posted On |
2016-10-24 |