Incidental Mutation 'R4983:Abcc9'
ID |
385727 |
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 |
042577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R4983 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142627867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 388
(M388V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
AlphaFold |
P70170 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073173
AA Change: M388V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000072914 Gene: ENSMUSG00000030249 AA Change: M388V
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: M388V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000084805 Gene: ENSMUSG00000030249 AA Change: M388V
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: M388V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098390 Gene: ENSMUSG00000030249 AA Change: M388V
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: M388V
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107401 Gene: ENSMUSG00000030249 AA Change: M388V
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: M388V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144779 Gene: ENSMUSG00000030249 AA Change: M388V
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 |
0.0641 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (103/106) |
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
T |
G |
19: 42,041,515 (GRCm39) |
S215R |
possibly damaging |
Het |
Acbd6 |
A |
C |
1: 155,477,275 (GRCm39) |
T154P |
probably benign |
Het |
Ago1 |
T |
C |
4: 126,347,447 (GRCm39) |
D434G |
probably damaging |
Het |
Ankib1 |
A |
T |
5: 3,819,652 (GRCm39) |
M89K |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,833,868 (GRCm39) |
H866Q |
probably damaging |
Het |
Armh3 |
T |
C |
19: 45,939,146 (GRCm39) |
T335A |
probably benign |
Het |
Capn12 |
A |
T |
7: 28,589,795 (GRCm39) |
H622L |
probably benign |
Het |
Capns2 |
T |
G |
8: 93,628,530 (GRCm39) |
F140V |
probably damaging |
Het |
Catsper1 |
T |
G |
19: 5,385,991 (GRCm39) |
F75V |
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,729,297 (GRCm39) |
N16S |
probably benign |
Het |
Cdkn2aip |
A |
T |
8: 48,165,964 (GRCm39) |
L114Q |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,940,689 (GRCm39) |
S649R |
probably damaging |
Het |
Chgb |
A |
T |
2: 132,635,602 (GRCm39) |
R515W |
probably damaging |
Het |
Chrnb1 |
A |
G |
11: 69,684,804 (GRCm39) |
F123S |
probably damaging |
Het |
Copz2 |
A |
T |
11: 96,748,377 (GRCm39) |
|
probably null |
Het |
Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
Daw1 |
C |
A |
1: 83,165,719 (GRCm39) |
A178E |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Epb41l5 |
T |
C |
1: 119,482,801 (GRCm39) |
D629G |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,838,829 (GRCm39) |
E925G |
probably benign |
Het |
Exoc7 |
A |
C |
11: 116,180,095 (GRCm39) |
F657V |
probably damaging |
Het |
Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Homo |
Fry |
A |
G |
5: 150,321,719 (GRCm39) |
E1018G |
probably damaging |
Het |
Galc |
A |
T |
12: 98,209,027 (GRCm39) |
L15* |
probably null |
Het |
Gm11232 |
T |
A |
4: 71,675,138 (GRCm39) |
K121N |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,831,045 (GRCm39) |
D931E |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,871,830 (GRCm39) |
H1372R |
probably benign |
Het |
Ighv3-2 |
T |
A |
12: 113,997,606 (GRCm39) |
|
noncoding transcript |
Het |
Kcns2 |
T |
G |
15: 34,839,751 (GRCm39) |
S371R |
probably damaging |
Het |
Kif23 |
T |
C |
9: 61,843,985 (GRCm39) |
K175E |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,500,509 (GRCm39) |
R436W |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,835,242 (GRCm39) |
S1317P |
probably benign |
Het |
Lce1e |
T |
C |
3: 92,615,135 (GRCm39) |
S71G |
unknown |
Het |
Lrrc37a |
T |
A |
11: 103,388,444 (GRCm39) |
E2327V |
unknown |
Het |
Map3k20 |
A |
G |
2: 72,232,411 (GRCm39) |
M356V |
probably benign |
Het |
Med12l |
C |
T |
3: 59,169,350 (GRCm39) |
A1580V |
probably damaging |
Het |
Metap2 |
G |
T |
10: 93,725,462 (GRCm39) |
T30K |
possibly damaging |
Het |
Mysm1 |
T |
A |
4: 94,861,207 (GRCm39) |
T53S |
probably benign |
Het |
Nasp |
A |
T |
4: 116,459,382 (GRCm39) |
D717E |
probably damaging |
Het |
Ndnf |
G |
A |
6: 65,680,555 (GRCm39) |
R278H |
possibly damaging |
Het |
Neb |
A |
T |
2: 52,106,273 (GRCm39) |
N4205K |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,380,082 (GRCm39) |
I764N |
possibly damaging |
Het |
Nucb1 |
A |
G |
7: 45,148,313 (GRCm39) |
Y131H |
probably damaging |
Het |
Or14c39 |
A |
C |
7: 86,343,687 (GRCm39) |
T8P |
probably benign |
Het |
Or1e22 |
A |
G |
11: 73,377,623 (GRCm39) |
I9T |
probably benign |
Het |
Or5l14 |
G |
T |
2: 87,793,042 (GRCm39) |
H65N |
probably benign |
Het |
Oscp1 |
T |
A |
4: 125,970,555 (GRCm39) |
C115S |
probably benign |
Het |
Paip2 |
C |
T |
18: 35,746,412 (GRCm39) |
R59C |
possibly damaging |
Het |
Pate10 |
T |
G |
9: 35,653,465 (GRCm39) |
F90V |
probably benign |
Het |
Pcdhga4 |
G |
A |
18: 37,819,572 (GRCm39) |
D374N |
probably damaging |
Het |
Pcolce |
G |
T |
5: 137,603,936 (GRCm39) |
|
probably benign |
Het |
Pcyox1l |
T |
C |
18: 61,832,468 (GRCm39) |
E193G |
probably damaging |
Het |
Pde6b |
A |
T |
5: 108,573,196 (GRCm39) |
Q522L |
probably benign |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phf11a |
A |
G |
14: 59,521,887 (GRCm39) |
F95L |
probably benign |
Het |
Pja2 |
A |
C |
17: 64,616,053 (GRCm39) |
S281A |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,361,687 (GRCm39) |
F272S |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,167,984 (GRCm39) |
S752P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,582 (GRCm39) |
T1238A |
possibly damaging |
Het |
Prmt7 |
A |
G |
8: 106,976,995 (GRCm39) |
Y569C |
probably damaging |
Het |
Prss37 |
G |
A |
6: 40,493,070 (GRCm39) |
T132I |
probably benign |
Het |
Psmf1 |
A |
T |
2: 151,571,377 (GRCm39) |
|
probably benign |
Het |
Ptprj |
A |
C |
2: 90,290,876 (GRCm39) |
I528S |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,405,196 (GRCm39) |
T140A |
possibly damaging |
Het |
Rtn4 |
A |
G |
11: 29,657,217 (GRCm39) |
N457S |
probably benign |
Het |
Rusf1 |
C |
T |
7: 127,875,645 (GRCm39) |
|
probably benign |
Het |
Scn9a |
T |
C |
2: 66,396,614 (GRCm39) |
K93R |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,531 (GRCm39) |
V828A |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,423,873 (GRCm39) |
D507E |
probably benign |
Het |
Sirt4 |
A |
T |
5: 115,620,850 (GRCm39) |
F107L |
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,193,616 (GRCm39) |
L862Q |
probably damaging |
Het |
Slc16a4 |
T |
C |
3: 107,208,176 (GRCm39) |
S229P |
probably benign |
Het |
Slc37a3 |
A |
T |
6: 39,329,651 (GRCm39) |
C185* |
probably null |
Het |
Slc5a2 |
A |
T |
7: 127,870,982 (GRCm39) |
*154C |
probably null |
Het |
Snx17 |
A |
G |
5: 31,353,138 (GRCm39) |
S42G |
possibly damaging |
Het |
Tgm6 |
T |
C |
2: 129,983,113 (GRCm39) |
V234A |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,927,207 (GRCm39) |
M94T |
probably benign |
Het |
Thtpa |
A |
G |
14: 55,309,605 (GRCm39) |
|
probably benign |
Het |
Tie1 |
T |
C |
4: 118,340,952 (GRCm39) |
E343G |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,008,027 (GRCm39) |
I238V |
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,685,858 (GRCm39) |
S170G |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,499,283 (GRCm39) |
D865E |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,809,785 (GRCm39) |
E337G |
probably benign |
Het |
Ttn |
G |
A |
2: 76,697,790 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
T |
C |
15: 88,990,494 (GRCm39) |
E710G |
probably damaging |
Het |
Txndc2 |
T |
A |
17: 65,945,055 (GRCm39) |
H374L |
probably benign |
Het |
Unc80 |
G |
T |
1: 66,713,891 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
G |
A |
6: 123,710,308 (GRCm39) |
C537Y |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,486,116 (GRCm39) |
F391L |
probably damaging |
Het |
Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
Zfp180 |
C |
T |
7: 23,805,503 (GRCm39) |
R641C |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,371 (GRCm39) |
S113T |
possibly damaging |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
Zswim5 |
T |
A |
4: 116,842,883 (GRCm39) |
M876K |
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 |
|
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 |
|
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'- TAACCTTCCCGGAGCAAAGC -3'
(R):5'- ATATGCTTAAAGTTGGCTGTACG -3'
Sequencing Primer
(F):5'- AGCAGCCTCCGCTCTGATTG -3'
(R):5'- AAGTTGGCTGTACGTTATAATTCTAG -3'
|
Posted On |
2016-05-10 |