Incidental Mutation 'R1918:Abcc9'
| ID |
212703 |
| 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 |
039936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1918 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142643408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 47
(I47F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000204870]
[ENSMUST00000205202]
|
| AlphaFold |
P70170 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073173
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 damaging
Transcript: ENSMUST00000087527
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 damaging
Transcript: ENSMUST00000100827
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 damaging
Transcript: ENSMUST00000111771
AA Change: I47F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 damaging
Transcript: ENSMUST00000204870
AA Change: I47F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145489
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 |
probably damaging
Transcript: ENSMUST00000205202
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: I47F
| 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 |
0.1462 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (113/116) |
| 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: 116 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
G |
7: 29,273,514 (GRCm39) |
|
noncoding transcript |
Het |
| A2m |
T |
C |
6: 121,621,895 (GRCm39) |
S314P |
probably benign |
Het |
| Abcd2 |
C |
T |
15: 91,075,684 (GRCm39) |
R43H |
probably benign |
Het |
| Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
| Aen |
C |
T |
7: 78,555,777 (GRCm39) |
H242Y |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 77,985,708 (GRCm39) |
I698V |
probably benign |
Het |
| Arpp21 |
C |
T |
9: 111,948,246 (GRCm39) |
|
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,477,683 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,723,682 (GRCm39) |
Y337H |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,984,772 (GRCm39) |
G3094D |
unknown |
Het |
| Cadm2 |
G |
A |
16: 66,544,270 (GRCm39) |
|
probably benign |
Het |
| Cadps |
T |
C |
14: 12,546,372 (GRCm38) |
M495V |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,259 (GRCm39) |
H447R |
possibly damaging |
Het |
| Ccdc124 |
C |
A |
8: 71,321,588 (GRCm39) |
R108L |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 76,845,047 (GRCm39) |
R1340Q |
probably benign |
Het |
| Ccdc148 |
T |
G |
2: 58,872,911 (GRCm39) |
R299S |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,944,936 (GRCm39) |
E382G |
probably damaging |
Het |
| Cd36 |
A |
T |
5: 18,002,034 (GRCm39) |
C322* |
probably null |
Het |
| Celsr2 |
C |
T |
3: 108,305,966 (GRCm39) |
G2046D |
probably benign |
Het |
| Clasrp |
C |
T |
7: 19,319,188 (GRCm39) |
W492* |
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,897,983 (GRCm39) |
V154A |
possibly damaging |
Het |
| Ctnnb1 |
C |
T |
9: 120,780,100 (GRCm39) |
P128S |
possibly damaging |
Het |
| Cyp11a1 |
A |
G |
9: 57,934,040 (GRCm39) |
I496V |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,622,408 (GRCm39) |
V1047I |
probably benign |
Het |
| Dync2i1 |
A |
C |
12: 116,196,221 (GRCm39) |
S509A |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,941,637 (GRCm39) |
V636A |
probably damaging |
Het |
| Fars2 |
T |
C |
13: 36,388,529 (GRCm39) |
L6P |
probably damaging |
Het |
| Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
| Fnip1 |
C |
T |
11: 54,371,510 (GRCm39) |
T177I |
probably damaging |
Het |
| Fut8 |
G |
T |
12: 77,378,992 (GRCm39) |
R31L |
probably benign |
Het |
| G6pd2 |
T |
C |
5: 61,967,664 (GRCm39) |
F480L |
probably benign |
Het |
| Glipr1l2 |
T |
A |
10: 111,928,550 (GRCm39) |
C148* |
probably null |
Het |
| Gm10142 |
G |
A |
10: 77,551,821 (GRCm39) |
V61M |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,812,180 (GRCm39) |
M145K |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
T |
C |
5: 138,276,641 (GRCm39) |
T162A |
probably benign |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
| Hal |
C |
T |
10: 93,332,469 (GRCm39) |
P294S |
probably damaging |
Het |
| Hectd3 |
C |
T |
4: 116,857,540 (GRCm39) |
A573V |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,114 (GRCm39) |
I665F |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,383,408 (GRCm39) |
|
probably null |
Het |
| Hif1an |
A |
G |
19: 44,559,551 (GRCm39) |
|
probably null |
Het |
| Iho1 |
T |
A |
9: 108,290,184 (GRCm39) |
H140L |
probably benign |
Het |
| Il12rb1 |
T |
A |
8: 71,266,324 (GRCm39) |
M223K |
probably benign |
Het |
| Ilf3 |
C |
T |
9: 21,305,010 (GRCm39) |
T201M |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,265,693 (GRCm39) |
|
probably benign |
Het |
| Jcad |
T |
C |
18: 4,674,292 (GRCm39) |
Y685H |
probably damaging |
Het |
| Kcnj1 |
C |
A |
9: 32,308,034 (GRCm39) |
Q153K |
probably benign |
Het |
| Kctd18 |
A |
C |
1: 57,998,379 (GRCm39) |
H73Q |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,603,463 (GRCm39) |
W573R |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,105,186 (GRCm39) |
V328D |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,630,033 (GRCm39) |
T583A |
probably benign |
Het |
| Ltbp4 |
G |
A |
7: 27,036,994 (GRCm39) |
|
probably benign |
Het |
| Mapt |
A |
T |
11: 104,189,325 (GRCm39) |
E114D |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,740,972 (GRCm39) |
|
probably null |
Het |
| Mthfd1 |
G |
T |
12: 76,361,750 (GRCm39) |
A119S |
probably damaging |
Het |
| Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
| Nceh1 |
T |
G |
3: 27,237,324 (GRCm39) |
L33R |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,092,868 (GRCm39) |
I91T |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,061,528 (GRCm39) |
A20T |
possibly damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,052 (GRCm39) |
M147K |
probably benign |
Het |
| Or4c127 |
T |
C |
2: 89,832,918 (GRCm39) |
F56S |
probably benign |
Het |
| Or4d6 |
A |
G |
19: 12,086,871 (GRCm39) |
V13A |
probably benign |
Het |
| Or5b97 |
A |
G |
19: 12,878,215 (GRCm39) |
*310Q |
probably null |
Het |
| Or5t18 |
C |
T |
2: 86,637,171 (GRCm39) |
M57I |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,671,101 (GRCm39) |
V215A |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,837,260 (GRCm39) |
N104K |
probably damaging |
Het |
| Phf24 |
T |
C |
4: 42,938,165 (GRCm39) |
|
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,041,331 (GRCm39) |
N530S |
probably benign |
Het |
| Pou3f2 |
T |
C |
4: 22,487,119 (GRCm39) |
D338G |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,244 (GRCm39) |
V480A |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,963,623 (GRCm39) |
I663N |
probably benign |
Het |
| Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,662,351 (GRCm39) |
S200P |
possibly damaging |
Het |
| Rbm33 |
T |
A |
5: 28,592,915 (GRCm39) |
I605N |
probably damaging |
Het |
| Rps19bp1 |
T |
C |
15: 80,148,280 (GRCm39) |
T31A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,571,584 (GRCm39) |
T4885S |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
| Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,947,051 (GRCm39) |
S258P |
unknown |
Het |
| Slc22a29 |
C |
T |
19: 8,195,123 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
A |
T |
12: 81,361,618 (GRCm39) |
F400L |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,266,134 (GRCm39) |
I37T |
possibly damaging |
Het |
| Smchd1 |
A |
G |
17: 71,714,232 (GRCm39) |
I877T |
possibly damaging |
Het |
| Spag5 |
A |
G |
11: 78,195,002 (GRCm39) |
N103S |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,092,414 (GRCm39) |
F450L |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,567,846 (GRCm39) |
Y507N |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Syt17 |
G |
T |
7: 118,033,208 (GRCm39) |
L267I |
possibly damaging |
Het |
| Tcstv4 |
T |
C |
13: 120,769,758 (GRCm39) |
L26P |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,866,247 (GRCm39) |
R339W |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,450 (GRCm39) |
Y220H |
possibly damaging |
Het |
| Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,571,745 (GRCm39) |
S26383P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,638,868 (GRCm39) |
T13938K |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,167,365 (GRCm39) |
N188D |
possibly damaging |
Het |
| Ube3c |
C |
T |
5: 29,792,315 (GRCm39) |
R37C |
probably damaging |
Het |
| Uggt2 |
G |
T |
14: 119,245,467 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
| Usp17la |
C |
T |
7: 104,509,953 (GRCm39) |
T186I |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,659 (GRCm39) |
I328K |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,610 (GRCm39) |
S378R |
probably benign |
Het |
| Vwa2 |
C |
T |
19: 56,897,366 (GRCm39) |
T557I |
probably benign |
Het |
| Vxn |
T |
C |
1: 9,671,852 (GRCm39) |
F15S |
probably damaging |
Het |
| Yes1 |
G |
T |
5: 32,842,079 (GRCm39) |
Q534H |
probably benign |
Het |
| Zbtb25 |
A |
T |
12: 76,396,075 (GRCm39) |
Y382* |
probably null |
Het |
| Zc3h3 |
G |
A |
15: 75,648,967 (GRCm39) |
P722S |
probably damaging |
Het |
| Zfp36l2 |
T |
C |
17: 84,494,164 (GRCm39) |
T158A |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,179,624 (GRCm39) |
T994A |
probably damaging |
Het |
| Zfp592 |
C |
T |
7: 80,687,168 (GRCm39) |
Q824* |
probably null |
Het |
| Zfp629 |
C |
A |
7: 127,211,172 (GRCm39) |
K212N |
probably damaging |
Het |
| Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
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 |
|
|
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'- TAGCCTGTGGGATATTCTACAGC -3'
(R):5'- TTGTTTCCCCAGCCACAAAAG -3'
Sequencing Primer
(F):5'- GCAAGTATATACAATCAAAACACGC -3'
(R):5'- CCTTAACTAAAGCCACCATTTTAGG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation