Incidental Mutation 'R0646:Abcc9'
ID |
57151 |
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 |
038831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0646 (G1)
|
Quality Score |
201 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142627830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 400
(N400S)
|
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: N400S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000072914 Gene: ENSMUSG00000030249 AA Change: N400S
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: N400S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000084805 Gene: ENSMUSG00000030249 AA Change: N400S
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: N400S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000098390 Gene: ENSMUSG00000030249 AA Change: N400S
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: N400S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000107401 Gene: ENSMUSG00000030249 AA Change: N400S
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: N400S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144779 Gene: ENSMUSG00000030249 AA Change: N400S
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 |
|
Meta Mutation Damage Score |
0.0858 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (123/130) |
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: 125 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
T |
7: 29,260,710 (GRCm39) |
|
noncoding transcript |
Het |
Abcb11 |
A |
G |
2: 69,115,627 (GRCm39) |
I579T |
probably damaging |
Het |
Adarb2 |
T |
C |
13: 8,781,855 (GRCm39) |
L577P |
probably damaging |
Het |
Agt |
A |
C |
8: 125,283,852 (GRCm39) |
N422K |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,766 (GRCm39) |
K4017* |
probably null |
Het |
Akap13 |
C |
A |
7: 75,397,494 (GRCm39) |
Q2575K |
probably damaging |
Het |
Aldh3a2 |
A |
T |
11: 61,144,541 (GRCm39) |
I339K |
probably damaging |
Het |
Alox15 |
G |
T |
11: 70,236,450 (GRCm39) |
Y483* |
probably null |
Het |
Ampd1 |
A |
T |
3: 103,006,913 (GRCm39) |
I713F |
probably damaging |
Het |
Amph |
A |
T |
13: 19,297,286 (GRCm39) |
E344V |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,932,807 (GRCm39) |
S1032P |
probably damaging |
Het |
Armc8 |
C |
A |
9: 99,387,741 (GRCm39) |
L393F |
probably damaging |
Het |
Bpnt1 |
A |
G |
1: 185,077,623 (GRCm39) |
|
probably null |
Het |
Cachd1 |
G |
A |
4: 100,845,418 (GRCm39) |
R970H |
probably damaging |
Het |
Cd207 |
T |
C |
6: 83,652,738 (GRCm39) |
T131A |
probably benign |
Het |
Cd83 |
G |
A |
13: 43,951,009 (GRCm39) |
V54I |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,752,115 (GRCm39) |
K1086E |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,941,328 (GRCm39) |
V1837E |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,123,917 (GRCm39) |
H89L |
probably benign |
Het |
Cnga4 |
T |
C |
7: 105,054,182 (GRCm39) |
I50T |
possibly damaging |
Het |
Cog5 |
A |
G |
12: 31,887,358 (GRCm39) |
|
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,278,322 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
G |
6: 8,175,291 (GRCm39) |
I186L |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,481,252 (GRCm39) |
M808K |
probably benign |
Het |
Copb2 |
A |
G |
9: 98,445,528 (GRCm39) |
|
probably benign |
Het |
Dbnl |
G |
A |
11: 5,745,441 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,552,493 (GRCm39) |
T51A |
possibly damaging |
Het |
Dcp1a |
A |
T |
14: 30,224,842 (GRCm39) |
M123L |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,123,659 (GRCm39) |
F217I |
probably benign |
Het |
Dlc1 |
T |
C |
8: 37,325,205 (GRCm39) |
T367A |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,888,863 (GRCm39) |
T834S |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,903,147 (GRCm39) |
S929P |
probably damaging |
Het |
Dnase1l2 |
C |
A |
17: 24,660,056 (GRCm39) |
V271L |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,229,114 (GRCm39) |
Y392C |
probably damaging |
Het |
Edn1 |
T |
C |
13: 42,458,718 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,611,327 (GRCm39) |
D390N |
probably benign |
Het |
Eps8l3 |
T |
C |
3: 107,792,126 (GRCm39) |
L351P |
probably damaging |
Het |
F12 |
G |
A |
13: 55,570,296 (GRCm39) |
|
probably benign |
Het |
Fam47e |
T |
C |
5: 92,726,317 (GRCm39) |
|
probably benign |
Het |
Fcrl5 |
C |
A |
3: 87,349,320 (GRCm39) |
Q32K |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,960,505 (GRCm39) |
V1637I |
possibly damaging |
Het |
Foxg1 |
G |
T |
12: 49,431,350 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
Galnt5 |
A |
T |
2: 57,889,097 (GRCm39) |
K232N |
probably benign |
Het |
Ggt5 |
G |
A |
10: 75,438,482 (GRCm39) |
V68M |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,101 (GRCm39) |
C17R |
probably benign |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Gm9631 |
T |
G |
11: 121,836,455 (GRCm39) |
D28A |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,842,087 (GRCm39) |
I21M |
probably benign |
Het |
H2-Q2 |
T |
G |
17: 35,564,661 (GRCm39) |
D354E |
probably damaging |
Het |
Icam2 |
A |
T |
11: 106,271,717 (GRCm39) |
I71K |
probably damaging |
Het |
Il12a |
T |
C |
3: 68,605,223 (GRCm39) |
|
probably benign |
Het |
Insm2 |
C |
G |
12: 55,647,225 (GRCm39) |
A323G |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,104,835 (GRCm39) |
T1064A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,773,176 (GRCm39) |
V11E |
possibly damaging |
Het |
Kctd15 |
C |
T |
7: 34,344,306 (GRCm39) |
S115N |
probably damaging |
Het |
Klra5 |
A |
G |
6: 129,880,527 (GRCm39) |
W124R |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,486 (GRCm39) |
D571V |
probably benign |
Het |
Kpna6 |
A |
T |
4: 129,544,583 (GRCm39) |
F380I |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,762,169 (GRCm39) |
Y109* |
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,503,986 (GRCm39) |
K485* |
probably null |
Het |
Man2a2 |
T |
C |
7: 80,012,945 (GRCm39) |
H540R |
possibly damaging |
Het |
Map2k4 |
T |
C |
11: 65,603,101 (GRCm39) |
E188G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,895,252 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,796,038 (GRCm39) |
D25G |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,221,915 (GRCm39) |
Q238L |
possibly damaging |
Het |
Mmachc |
A |
G |
4: 116,560,851 (GRCm39) |
Y215H |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,568,811 (GRCm39) |
Y1110* |
probably null |
Het |
Nek2 |
A |
G |
1: 191,554,331 (GRCm39) |
N57D |
probably damaging |
Het |
Nek7 |
ACCCC |
ACCC |
1: 138,443,431 (GRCm39) |
|
probably null |
Het |
Neo1 |
G |
T |
9: 58,838,317 (GRCm39) |
T489K |
probably damaging |
Het |
Neu1 |
T |
A |
17: 35,153,736 (GRCm39) |
Y387N |
probably damaging |
Het |
Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
Nle1 |
G |
A |
11: 82,795,671 (GRCm39) |
L259F |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,110,105 (GRCm39) |
Q309* |
probably null |
Het |
Nufip2 |
C |
T |
11: 77,577,279 (GRCm39) |
H76Y |
probably benign |
Het |
Or10ak16 |
A |
C |
4: 118,750,687 (GRCm39) |
T136P |
probably damaging |
Het |
Or2y13 |
A |
T |
11: 49,415,405 (GRCm39) |
N285I |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,476,096 (GRCm39) |
I82N |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,018 (GRCm39) |
I307N |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,735,358 (GRCm39) |
F206S |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,877 (GRCm39) |
I280F |
probably damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,675 (GRCm39) |
T352A |
probably benign |
Het |
Pcdhb7 |
A |
T |
18: 37,476,442 (GRCm39) |
D526V |
probably damaging |
Het |
Phkg1 |
A |
T |
5: 129,893,394 (GRCm39) |
|
probably null |
Het |
Plg |
C |
T |
17: 12,637,623 (GRCm39) |
T744M |
probably damaging |
Het |
Plxnd1 |
A |
C |
6: 115,935,660 (GRCm39) |
|
probably benign |
Het |
Poglut1 |
A |
T |
16: 38,349,837 (GRCm39) |
I312N |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
A |
G |
4: 122,737,892 (GRCm39) |
M77V |
probably benign |
Het |
Pramel26 |
A |
C |
4: 143,539,155 (GRCm39) |
S113A |
possibly damaging |
Het |
Pramel5 |
G |
T |
4: 143,998,190 (GRCm39) |
T351N |
probably damaging |
Het |
Psmb4 |
G |
A |
3: 94,792,275 (GRCm39) |
R216C |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,002,640 (GRCm39) |
T699A |
probably damaging |
Het |
Retreg3 |
A |
T |
11: 100,989,455 (GRCm39) |
|
probably benign |
Het |
Sanbr |
C |
T |
11: 23,525,491 (GRCm39) |
R716H |
probably damaging |
Het |
Scaper |
G |
A |
9: 55,665,340 (GRCm39) |
A389V |
probably damaging |
Het |
Serinc5 |
G |
A |
13: 92,825,245 (GRCm39) |
D225N |
possibly damaging |
Het |
Slco1a1 |
T |
G |
6: 141,871,480 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sod3 |
A |
T |
5: 52,525,421 (GRCm39) |
D40V |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,194,734 (GRCm39) |
A39E |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,639,056 (GRCm39) |
T761S |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,720,004 (GRCm39) |
|
probably null |
Het |
Synm |
T |
A |
7: 67,408,916 (GRCm39) |
D154V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,908,098 (GRCm39) |
E406G |
probably damaging |
Het |
Tcea3 |
T |
A |
4: 135,975,382 (GRCm39) |
L8* |
probably null |
Het |
Tec |
G |
A |
5: 72,980,840 (GRCm39) |
L33F |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,072,354 (GRCm39) |
S2634T |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,601,475 (GRCm39) |
Y162N |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,690,123 (GRCm39) |
V853I |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,068,240 (GRCm39) |
K1748E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,822 (GRCm39) |
|
probably benign |
Het |
Usp36 |
C |
T |
11: 118,163,847 (GRCm39) |
D234N |
probably damaging |
Het |
Usp40 |
G |
A |
1: 87,906,244 (GRCm39) |
P664S |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,635 (GRCm39) |
L183H |
probably benign |
Het |
Vmn1r58 |
T |
G |
7: 5,413,676 (GRCm39) |
I185L |
probably benign |
Het |
Wnt8a |
A |
T |
18: 34,680,618 (GRCm39) |
R328W |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,107,732 (GRCm39) |
|
probably benign |
Het |
Zbtb49 |
A |
C |
5: 38,358,018 (GRCm39) |
M745R |
probably damaging |
Het |
Zeb1 |
T |
G |
18: 5,759,027 (GRCm39) |
F162V |
probably damaging |
Het |
Zfp369 |
A |
T |
13: 65,445,362 (GRCm39) |
H835L |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,701,351 (GRCm39) |
V460A |
unknown |
Het |
Zp3 |
A |
G |
5: 136,013,210 (GRCm39) |
N181D |
possibly damaging |
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 |
|
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'- CAAAGCAGCCTCCGCTCTGAT -3'
(R):5'- GCACACTAGCCAGCCAGGGAA -3'
Sequencing Primer
(F):5'- ATTGGTTTTCCCCTGCTACTGAG -3'
(R):5'- cctcccctctctccttcttc -3'
|
Posted On |
2013-07-11 |