Incidental Mutation 'R0349:Abcc9'
ID |
36072 |
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 |
038556-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0349 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142610351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 604
(N604K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
AlphaFold |
P70170 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073173
AA Change: N604K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000072914 Gene: ENSMUSG00000030249 AA Change: N604K
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 |
probably benign
Transcript: ENSMUST00000087527
AA Change: N604K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000084805 Gene: ENSMUSG00000030249 AA Change: N604K
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 |
probably benign
Transcript: ENSMUST00000100827
AA Change: N604K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000098390 Gene: ENSMUSG00000030249 AA Change: N604K
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: N604K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107401 Gene: ENSMUSG00000030249 AA Change: N604K
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: ENSMUST00000205202
AA Change: N604K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000144779 Gene: ENSMUSG00000030249 AA Change: N604K
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: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.3%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
T |
19: 31,910,062 (GRCm39) |
S285C |
possibly damaging |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,919,491 (GRCm39) |
T1192A |
probably damaging |
Het |
Aldh1l2 |
A |
T |
10: 83,326,478 (GRCm39) |
Y800N |
probably damaging |
Het |
Ano3 |
A |
T |
2: 110,491,832 (GRCm39) |
V865D |
probably damaging |
Het |
App |
A |
T |
16: 84,810,568 (GRCm39) |
L545Q |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,453,215 (GRCm39) |
D798G |
probably damaging |
Het |
B3galnt2 |
T |
C |
13: 14,166,059 (GRCm39) |
V318A |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,394,382 (GRCm39) |
D49V |
possibly damaging |
Het |
Clcn6 |
T |
A |
4: 148,108,651 (GRCm39) |
K126M |
possibly damaging |
Het |
Cntln |
T |
A |
4: 84,914,722 (GRCm39) |
S510T |
probably damaging |
Het |
Csk |
A |
C |
9: 57,535,477 (GRCm39) |
C290W |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,012,349 (GRCm39) |
M1502K |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,607,218 (GRCm39) |
N81I |
possibly damaging |
Het |
Dpyd |
T |
A |
3: 118,710,748 (GRCm39) |
C385* |
probably null |
Het |
Dst |
G |
A |
1: 34,238,634 (GRCm39) |
V1765I |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,071,447 (GRCm39) |
S459G |
probably benign |
Het |
Fam83d |
A |
G |
2: 158,621,768 (GRCm39) |
I160V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,942,476 (GRCm39) |
F1299L |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,196,141 (GRCm39) |
I614V |
unknown |
Het |
Fsd1l |
T |
A |
4: 53,679,854 (GRCm39) |
V184E |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,626,727 (GRCm39) |
V1328A |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,889,016 (GRCm39) |
N572K |
probably null |
Het |
Gbp10 |
T |
A |
5: 105,368,942 (GRCm39) |
D299V |
possibly damaging |
Het |
Gpr83 |
T |
G |
9: 14,779,563 (GRCm39) |
L205R |
probably damaging |
Het |
Hapln2 |
G |
A |
3: 87,930,936 (GRCm39) |
P152S |
probably damaging |
Het |
Htatip2 |
T |
C |
7: 49,423,140 (GRCm39) |
Y232H |
probably benign |
Het |
Itga2b |
C |
T |
11: 102,358,252 (GRCm39) |
V158I |
probably damaging |
Het |
Kansl3 |
T |
C |
1: 36,390,864 (GRCm39) |
D390G |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,556,235 (GRCm39) |
D16G |
probably benign |
Het |
Kctd8 |
A |
T |
5: 69,498,353 (GRCm39) |
F98I |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,077,049 (GRCm39) |
E357V |
probably damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,594 (GRCm39) |
R371C |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,490,220 (GRCm39) |
F241L |
probably benign |
Het |
Lrba |
A |
G |
3: 86,447,312 (GRCm39) |
D2052G |
probably damaging |
Het |
Lsr |
T |
A |
7: 30,658,698 (GRCm39) |
I54F |
probably damaging |
Het |
Matk |
G |
T |
10: 81,094,328 (GRCm39) |
L28F |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,750,318 (GRCm39) |
L4429P |
probably damaging |
Het |
Med29 |
CCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGC |
7: 28,091,935 (GRCm39) |
|
probably benign |
Het |
Msln |
G |
T |
17: 25,969,250 (GRCm39) |
Q407K |
possibly damaging |
Het |
Msr1 |
C |
T |
8: 40,034,868 (GRCm39) |
G428R |
probably damaging |
Het |
Myof |
A |
G |
19: 37,899,417 (GRCm39) |
I1040T |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,954,171 (GRCm39) |
S794P |
probably benign |
Het |
Nfkbiz |
C |
T |
16: 55,639,354 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
C |
T |
10: 94,031,044 (GRCm39) |
S535L |
probably damaging |
Het |
Opn3 |
A |
C |
1: 175,519,870 (GRCm39) |
L78R |
probably damaging |
Het |
Or11h4b |
G |
A |
14: 50,918,711 (GRCm39) |
R127C |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,199 (GRCm39) |
D95V |
possibly damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,299 (GRCm39) |
C125S |
probably damaging |
Het |
Otulinl |
T |
A |
15: 27,664,876 (GRCm39) |
I27L |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,535,632 (GRCm39) |
N542S |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,209,178 (GRCm39) |
N220K |
probably benign |
Het |
Pde6c |
A |
T |
19: 38,150,797 (GRCm39) |
N569Y |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,820,814 (GRCm39) |
K219M |
probably damaging |
Het |
Pitpnb |
C |
T |
5: 111,494,992 (GRCm39) |
T99M |
possibly damaging |
Het |
Pou6f2 |
T |
A |
13: 18,326,589 (GRCm39) |
Q71L |
probably damaging |
Het |
Pramel24 |
T |
G |
4: 143,453,629 (GRCm39) |
W246G |
probably benign |
Het |
Prkd1 |
C |
A |
12: 50,413,139 (GRCm39) |
L677F |
probably damaging |
Het |
Ranbp17 |
T |
C |
11: 33,450,689 (GRCm39) |
I78V |
probably benign |
Het |
Rnft2 |
T |
A |
5: 118,339,450 (GRCm39) |
K362M |
possibly damaging |
Het |
Rprd1a |
T |
A |
18: 24,639,904 (GRCm39) |
E259V |
possibly damaging |
Het |
Scara3 |
A |
T |
14: 66,169,230 (GRCm39) |
I129N |
probably damaging |
Het |
Scgb1a1 |
A |
T |
19: 9,062,753 (GRCm39) |
|
probably null |
Het |
Sec16b |
A |
T |
1: 157,359,746 (GRCm39) |
|
probably null |
Het |
Slc18a1 |
A |
T |
8: 69,524,753 (GRCm39) |
M167K |
probably damaging |
Het |
Slc6a15 |
C |
T |
10: 103,254,086 (GRCm39) |
A674V |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,715,676 (GRCm39) |
F437S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stag1 |
T |
A |
9: 100,658,837 (GRCm39) |
N141K |
probably damaging |
Het |
Sun2 |
T |
C |
15: 79,614,433 (GRCm39) |
E321G |
probably damaging |
Het |
Taar2 |
C |
A |
10: 23,817,327 (GRCm39) |
T289K |
possibly damaging |
Het |
Taar2 |
T |
C |
10: 23,817,407 (GRCm39) |
Y316H |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,493,809 (GRCm39) |
|
probably null |
Het |
Tecr |
G |
A |
8: 84,298,904 (GRCm39) |
T106I |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,667,842 (GRCm39) |
L788P |
possibly damaging |
Het |
Tmem60 |
T |
G |
5: 21,091,628 (GRCm39) |
V131G |
probably benign |
Het |
Uimc1 |
A |
G |
13: 55,223,804 (GRCm39) |
V156A |
probably benign |
Het |
Usp28 |
G |
A |
9: 48,921,581 (GRCm39) |
W266* |
probably null |
Het |
Vmn2r17 |
T |
A |
5: 109,576,202 (GRCm39) |
S358T |
probably damaging |
Het |
Wwc2 |
T |
A |
8: 48,321,701 (GRCm39) |
Y471F |
unknown |
Het |
Ythdc1 |
C |
T |
5: 86,983,579 (GRCm39) |
R675C |
probably damaging |
Het |
Zfp30 |
T |
C |
7: 29,493,029 (GRCm39) |
S428P |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,008,768 (GRCm39) |
C245S |
probably benign |
Het |
Zscan30 |
T |
C |
18: 24,104,455 (GRCm39) |
|
noncoding transcript |
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 |
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 |
R5568:Abcc9
|
UTSW |
6 |
142,634,742 (GRCm39) |
missense |
possibly damaging |
0.62 |
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'- TTCAAGCCCCTGATGCAGGCAAAG -3'
(R):5'- TTTCCTAAGGCAGTTCTACCGCCG -3'
Sequencing Primer
(F):5'- CTCCCAGTTTATAGAGGCAGTGC -3'
(R):5'- CCGTGGCTTTCCAGGTATAG -3'
|
Posted On |
2013-05-09 |