Incidental Mutation 'R7296:Abcc9'
| ID |
571620 |
| 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 |
045400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142617319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 582
(P582S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
| AlphaFold |
P70170 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073173
AA Change: P582S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: P582S
| 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: P582S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: P582S
| 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: P582S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: P582S
| 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: P582S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: P582S
| 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: ENSMUST00000205202
AA Change: P582S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: P582S
| 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 |
0.9689 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (85/87) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,302 (GRCm39) |
M226K |
probably benign |
Het |
| 4921524L21Rik |
T |
G |
18: 6,626,385 (GRCm39) |
S132R |
probably damaging |
Het |
| A4gnt |
T |
G |
9: 99,502,335 (GRCm39) |
I165S |
probably damaging |
Het |
| Abca14 |
G |
A |
7: 119,877,534 (GRCm39) |
D1061N |
probably benign |
Het |
| Abhd5 |
G |
A |
9: 122,208,638 (GRCm39) |
V343I |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,192 (GRCm39) |
R522C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,385,590 (GRCm39) |
R313H |
probably damaging |
Het |
| Aplf |
G |
A |
6: 87,623,197 (GRCm39) |
T315I |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,383 (GRCm39) |
P491S |
probably benign |
Het |
| Atp5f1b |
T |
C |
10: 127,921,391 (GRCm39) |
Y230H |
probably benign |
Het |
| B4galt6 |
A |
T |
18: 20,861,099 (GRCm39) |
I51N |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,632 (GRCm39) |
V321I |
not run |
Het |
| C4b |
A |
G |
17: 34,962,633 (GRCm39) |
L23S |
probably damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,129 (GRCm39) |
V410A |
|
Het |
| Ccdc168 |
T |
A |
1: 44,100,076 (GRCm39) |
K341* |
probably null |
Het |
| Cdyl |
A |
G |
13: 36,047,378 (GRCm39) |
M489V |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,096,996 (GRCm39) |
M40T |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,589,348 (GRCm39) |
Y1069C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,708 (GRCm39) |
M194V |
probably benign |
Het |
| Colec11 |
T |
A |
12: 28,644,714 (GRCm39) |
D260V |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,653,699 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 121,999,319 (GRCm39) |
D1207G |
probably benign |
Het |
| Cyp2d34 |
G |
T |
15: 82,501,436 (GRCm39) |
N297K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,713,861 (GRCm39) |
Y1643C |
unknown |
Het |
| Dnmt3c |
A |
G |
2: 153,556,946 (GRCm39) |
T288A |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,162,245 (GRCm39) |
F1842I |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,083,880 (GRCm39) |
I740V |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,736,201 (GRCm39) |
M778L |
probably benign |
Het |
| Eri2 |
A |
T |
7: 119,385,739 (GRCm39) |
L254* |
probably null |
Het |
| Fam43b |
A |
G |
4: 138,123,152 (GRCm39) |
F56S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,294 (GRCm39) |
S729* |
probably null |
Het |
| Fbxw22 |
C |
A |
9: 109,211,143 (GRCm39) |
W386L |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,879,909 (GRCm39) |
C254* |
probably null |
Het |
| Fgd6 |
C |
A |
10: 93,975,743 (GRCm39) |
T1386K |
probably benign |
Het |
| Fkbp7 |
G |
T |
2: 76,502,108 (GRCm39) |
D98E |
possibly damaging |
Het |
| Hectd1 |
C |
T |
12: 51,832,635 (GRCm39) |
C913Y |
possibly damaging |
Het |
| Hgf |
T |
A |
5: 16,769,841 (GRCm39) |
M105K |
probably benign |
Het |
| Icam1 |
A |
C |
9: 20,930,311 (GRCm39) |
D55A |
probably benign |
Het |
| Itga2 |
A |
C |
13: 114,993,930 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,808,555 (GRCm39) |
N226I |
possibly damaging |
Het |
| Krt1 |
T |
A |
15: 101,759,064 (GRCm39) |
R33S |
unknown |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,728 (GRCm39) |
D615V |
unknown |
Het |
| Lrp2 |
T |
A |
2: 69,312,725 (GRCm39) |
Y2521F |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,408,825 (GRCm39) |
N589I |
probably damaging |
Het |
| Metap1d |
G |
C |
2: 71,337,129 (GRCm39) |
G14A |
probably benign |
Het |
| Mfap5 |
T |
A |
6: 122,505,381 (GRCm39) |
D162E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,524,523 (GRCm39) |
I19V |
probably benign |
Het |
| Mtrr |
G |
T |
13: 68,716,979 (GRCm39) |
Y411* |
probably null |
Het |
| Myh7 |
T |
C |
14: 55,227,482 (GRCm39) |
T318A |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,349,383 (GRCm39) |
Y2348* |
probably null |
Het |
| Nhsl3 |
A |
G |
4: 129,119,211 (GRCm39) |
Y170H |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,812,654 (GRCm39) |
S468P |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,781,454 (GRCm39) |
S668G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,406,052 (GRCm39) |
V208E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,916,654 (GRCm39) |
D293V |
possibly damaging |
Het |
| Or4c117 |
C |
A |
2: 88,955,180 (GRCm39) |
R298S |
probably benign |
Het |
| Pcna |
A |
G |
2: 132,094,797 (GRCm39) |
S54P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,391,364 (GRCm39) |
T570A |
probably damaging |
Het |
| Phf21b |
A |
T |
15: 84,739,918 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prob1 |
A |
G |
18: 35,786,352 (GRCm39) |
F634S |
possibly damaging |
Het |
| Prss50 |
A |
G |
9: 110,690,357 (GRCm39) |
T167A |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,692 (GRCm39) |
V249A |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,079,499 (GRCm39) |
V1188I |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,561,978 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,786,519 (GRCm39) |
Q844* |
probably null |
Het |
| Rpn1 |
A |
G |
6: 88,061,619 (GRCm39) |
D36G |
possibly damaging |
Het |
| Serpinb1b |
A |
T |
13: 33,277,810 (GRCm39) |
M348L |
probably benign |
Het |
| Setd4 |
T |
C |
16: 93,380,830 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
G |
6: 113,124,518 (GRCm39) |
S1124A |
probably benign |
Het |
| Slc35c1 |
C |
A |
2: 92,289,084 (GRCm39) |
V154F |
probably damaging |
Het |
| Slc7a6os |
G |
T |
8: 106,937,121 (GRCm39) |
S113* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,149,810 (GRCm39) |
D1787E |
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,192,373 (GRCm39) |
I38L |
probably damaging |
Het |
| Tepsin |
G |
T |
11: 119,982,534 (GRCm39) |
T512K |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,606,586 (GRCm39) |
V1662A |
probably benign |
Het |
| Vmn1r201 |
C |
T |
13: 22,659,509 (GRCm39) |
A241V |
possibly damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,785,826 (GRCm39) |
S210T |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,451,784 (GRCm39) |
H700N |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,052,790 (GRCm39) |
T29A |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,742,052 (GRCm39) |
I614T |
probably damaging |
Het |
| Zfp54 |
T |
A |
17: 21,653,844 (GRCm39) |
S113T |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,897,071 (GRCm39) |
C601S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,325,146 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
T |
C |
2: 165,681,929 (GRCm39) |
T201A |
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 |
|
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 |
|
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'- AACAGTGGGAATCTTTGCACATC -3'
(R):5'- CCAGCACAGTAGGATTCGCTAG -3'
Sequencing Primer
(F):5'- GTGGGAATCTTTGCACATCATTTTC -3'
(R):5'- CAGTAGGATTCGCTAGGTTCATTAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation