Incidental Mutation 'R4921:Abcc9'
| ID |
378573 |
| 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 |
042523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142536162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1524
(Y1524C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
| AlphaFold |
P70170 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073173
|
| SMART Domains |
Protein: ENSMUSP00000072914
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000084805
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 |
|
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: Y1524C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: Y1524C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107401
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000144779
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 |
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,662 (GRCm39) |
N65K |
probably benign |
Het |
| Acap1 |
A |
G |
11: 69,778,019 (GRCm39) |
I102T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,783,553 (GRCm39) |
V284A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,174,630 (GRCm39) |
M712V |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,407,908 (GRCm39) |
V213A |
probably benign |
Het |
| Adgrl3 |
G |
T |
5: 81,659,957 (GRCm39) |
W242L |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,211,310 (GRCm39) |
T857A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,605,528 (GRCm39) |
T2393A |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,837,939 (GRCm39) |
P240L |
probably damaging |
Het |
| Ankrd35 |
C |
A |
3: 96,592,140 (GRCm39) |
L809M |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,957,094 (GRCm39) |
L3690Q |
probably damaging |
Het |
| Bmp3 |
C |
A |
5: 99,019,920 (GRCm39) |
F114L |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,203,184 (GRCm39) |
H627Y |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,123,212 (GRCm39) |
D468G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,719,814 (GRCm39) |
E487G |
probably damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,938,530 (GRCm39) |
I746F |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,913 (GRCm39) |
Q119R |
possibly damaging |
Het |
| Cdh24 |
C |
T |
14: 54,870,672 (GRCm39) |
D178N |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,113,513 (GRCm39) |
T766S |
unknown |
Het |
| Chst15 |
T |
A |
7: 131,849,613 (GRCm39) |
T443S |
probably benign |
Het |
| Cnbp |
T |
C |
6: 87,822,128 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cntn2 |
A |
T |
1: 132,443,770 (GRCm39) |
V1003E |
possibly damaging |
Het |
| Crct1 |
A |
G |
3: 92,922,132 (GRCm39) |
|
probably benign |
Het |
| Dand5 |
C |
T |
8: 85,543,113 (GRCm39) |
C121Y |
probably damaging |
Het |
| Dmkn |
A |
T |
7: 30,470,658 (GRCm39) |
D382V |
probably damaging |
Het |
| Dnase2b |
T |
A |
3: 146,299,196 (GRCm39) |
T86S |
probably damaging |
Het |
| Dusp8 |
GCCACCACCACCACCACCACCACC |
GCCACCACCACCACCACCACC |
7: 141,635,891 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
C |
T |
14: 57,788,089 (GRCm39) |
V90M |
probably damaging |
Het |
| Egfl7 |
G |
T |
2: 26,480,992 (GRCm39) |
W168L |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,813,676 (GRCm39) |
C2908R |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,223,676 (GRCm39) |
K1076E |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,452 (GRCm39) |
N747D |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,123,915 (GRCm39) |
V191A |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,214 (GRCm39) |
D97G |
probably benign |
Het |
| Fer1l6 |
G |
T |
15: 58,472,160 (GRCm39) |
|
probably null |
Het |
| Flt4 |
T |
C |
11: 49,517,970 (GRCm39) |
W337R |
probably damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,082 (GRCm39) |
H136R |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,339,765 (GRCm39) |
I686N |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,725,315 (GRCm39) |
K84R |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,312,184 (GRCm39) |
M760K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,643,504 (GRCm39) |
T13A |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,050 (GRCm39) |
V323A |
possibly damaging |
Het |
| Hbb-bs |
G |
A |
7: 103,475,927 (GRCm39) |
A130V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,879,438 (GRCm39) |
H4685Q |
probably benign |
Het |
| Ighv5-9-1 |
C |
T |
12: 113,699,914 (GRCm39) |
R56H |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,897,431 (GRCm39) |
N1548S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,316,979 (GRCm39) |
Y745H |
probably damaging |
Het |
| Kank3 |
G |
T |
17: 34,036,174 (GRCm39) |
G14V |
probably damaging |
Het |
| Kif24 |
G |
T |
4: 41,394,329 (GRCm39) |
S982Y |
probably damaging |
Het |
| Kifc5b |
C |
T |
17: 27,139,997 (GRCm39) |
R53W |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Lcat |
G |
A |
8: 106,669,074 (GRCm39) |
P67L |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,532,471 (GRCm39) |
S562P |
probably damaging |
Het |
| Map3k8 |
G |
A |
18: 4,349,124 (GRCm39) |
R65W |
possibly damaging |
Het |
| Mbd3 |
G |
T |
10: 80,231,410 (GRCm39) |
R12S |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,077,292 (GRCm39) |
E106G |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,144,854 (GRCm39) |
L1256Q |
probably damaging |
Het |
| Mypn |
G |
A |
10: 62,983,715 (GRCm39) |
T511M |
possibly damaging |
Het |
| Nub1 |
A |
T |
5: 24,906,467 (GRCm39) |
N331I |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,606,416 (GRCm39) |
V440A |
possibly damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,367,993 (GRCm39) |
F174L |
probably benign |
Het |
| Or10d5 |
A |
C |
9: 39,861,521 (GRCm39) |
V182G |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,969,750 (GRCm39) |
N44I |
probably damaging |
Het |
| Or9q2 |
T |
C |
19: 13,772,829 (GRCm39) |
I49V |
probably benign |
Het |
| Parp2 |
C |
A |
14: 51,056,725 (GRCm39) |
L310I |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,707,162 (GRCm39) |
V46A |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,876,525 (GRCm39) |
D411G |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,781,624 (GRCm39) |
E807G |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,799,288 (GRCm39) |
N267K |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,896 (GRCm39) |
K398M |
possibly damaging |
Het |
| Rell1 |
C |
A |
5: 64,093,376 (GRCm39) |
M126I |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,313,856 (GRCm39) |
E36K |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,637 (GRCm39) |
S807G |
probably benign |
Het |
| Rpl10a |
T |
C |
17: 28,549,826 (GRCm39) |
V169A |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,667,664 (GRCm39) |
V166I |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,552,850 (GRCm39) |
E113G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,451,863 (GRCm39) |
S423P |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,799,519 (GRCm39) |
I182T |
probably benign |
Het |
| Selp |
A |
G |
1: 163,968,966 (GRCm39) |
D522G |
possibly damaging |
Het |
| Sema4b |
T |
A |
7: 79,848,504 (GRCm39) |
I35N |
possibly damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,403 (GRCm39) |
A258E |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,377,742 (GRCm39) |
Y213H |
probably benign |
Het |
| Slc22a7 |
T |
G |
17: 46,747,859 (GRCm39) |
I233L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,938,698 (GRCm39) |
Q210R |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,937,734 (GRCm39) |
E350G |
possibly damaging |
Het |
| Spata21 |
A |
T |
4: 140,839,402 (GRCm39) |
D639V |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,631 (GRCm39) |
D1519G |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,649 (GRCm39) |
T56A |
probably benign |
Het |
| Tigit |
A |
T |
16: 43,482,380 (GRCm39) |
I118N |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,600,342 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Tspan12 |
A |
C |
6: 21,835,448 (GRCm39) |
I9S |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,494,727 (GRCm39) |
Y347N |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,945,771 (GRCm39) |
T481A |
probably benign |
Het |
| Vmn1r192 |
A |
C |
13: 22,371,650 (GRCm39) |
V190G |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,740,473 (GRCm39) |
M259L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,406,632 (GRCm39) |
|
probably benign |
Het |
| Zdhhc6 |
T |
C |
19: 55,301,642 (GRCm39) |
H113R |
probably 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 |
|
|
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 |
|
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'- CGAGTGTGGACAGATCGTAG -3'
(R):5'- TGCTGGCTGGCATTTAAAAGC -3'
Sequencing Primer
(F):5'- TGTGGACAGATCGTAGTAAATGAACC -3'
(R):5'- AGGAAAGGGTATTTCTTGGTACACCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation