Incidental Mutation 'R0211:Abcc9'
ID |
35524 |
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 |
038462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R0211 (G1)
|
Quality Score |
117 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142634710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 185
(I185F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000204870]
[ENSMUST00000205202]
|
AlphaFold |
P70170 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073173
AA Change: I185F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000072914 Gene: ENSMUSG00000030249 AA Change: I185F
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: I185F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000084805 Gene: ENSMUSG00000030249 AA Change: I185F
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: I185F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000098390 Gene: ENSMUSG00000030249 AA Change: I185F
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: I185F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107401 Gene: ENSMUSG00000030249 AA Change: I185F
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: ENSMUST00000204870
|
SMART Domains |
Protein: ENSMUSP00000145489 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205202
AA Change: I185F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144779 Gene: ENSMUSG00000030249 AA Change: I185F
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: 98.2%
- 3x: 97.0%
- 10x: 94.6%
- 20x: 89.0%
|
Validation Efficiency |
100% (1/1) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,262,870 (GRCm39) |
L1401P |
possibly damaging |
Het |
4930503B20Rik |
C |
T |
3: 146,356,251 (GRCm39) |
R219H |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,607,581 (GRCm39) |
L100P |
probably damaging |
Het |
Akt1 |
T |
C |
12: 112,621,576 (GRCm39) |
T407A |
probably damaging |
Het |
Alk |
C |
T |
17: 72,910,511 (GRCm39) |
R65H |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,086 (GRCm39) |
E525G |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,883,300 (GRCm39) |
R1411C |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,383,460 (GRCm39) |
M242K |
probably damaging |
Het |
Atad5 |
T |
G |
11: 79,986,473 (GRCm39) |
V520G |
probably benign |
Het |
Avpr1a |
T |
A |
10: 122,285,374 (GRCm39) |
M222K |
possibly damaging |
Het |
Cbr2 |
T |
A |
11: 120,621,614 (GRCm39) |
I88L |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,845,608 (GRCm39) |
|
probably null |
Het |
Ccdc51 |
T |
C |
9: 108,918,441 (GRCm39) |
M10T |
probably benign |
Het |
Cntnap5b |
T |
A |
1: 100,406,099 (GRCm39) |
D1136E |
possibly damaging |
Het |
Coil |
T |
A |
11: 88,872,979 (GRCm39) |
S447T |
probably damaging |
Het |
Cryba1 |
T |
A |
11: 77,609,693 (GRCm39) |
Y179F |
probably damaging |
Het |
Dcaf4 |
T |
A |
12: 83,582,735 (GRCm39) |
F277I |
probably damaging |
Het |
Ddost |
G |
A |
4: 138,036,913 (GRCm39) |
V159M |
probably damaging |
Het |
Dnaaf4 |
A |
T |
9: 72,868,649 (GRCm39) |
R127S |
possibly damaging |
Het |
Dnajb6 |
T |
C |
5: 29,990,077 (GRCm39) |
|
probably benign |
Het |
Dnase2a |
A |
G |
8: 85,635,417 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
C |
16: 96,517,279 (GRCm39) |
I877V |
possibly damaging |
Het |
Efcc1 |
A |
T |
6: 87,726,136 (GRCm39) |
T312S |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,795,545 (GRCm39) |
I143F |
probably damaging |
Het |
Ermard |
A |
T |
17: 15,242,205 (GRCm39) |
Q127L |
probably damaging |
Het |
F2 |
T |
C |
2: 91,460,503 (GRCm39) |
E329G |
probably damaging |
Het |
Foxc2 |
T |
A |
8: 121,843,355 (GRCm39) |
M1K |
probably null |
Het |
Fuz |
T |
A |
7: 44,548,446 (GRCm39) |
|
probably null |
Het |
Ggnbp2 |
G |
A |
11: 84,731,139 (GRCm39) |
T325M |
probably damaging |
Het |
Gm6408 |
T |
A |
5: 146,419,870 (GRCm39) |
F115I |
probably benign |
Het |
Gp6 |
C |
T |
7: 4,376,208 (GRCm39) |
|
probably null |
Het |
Grin2a |
A |
G |
16: 9,397,037 (GRCm39) |
S1017P |
possibly damaging |
Het |
H2-T5 |
T |
C |
17: 36,478,899 (GRCm39) |
T117A |
probably damaging |
Het |
Hmmr |
A |
T |
11: 40,605,635 (GRCm39) |
M318K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,855,994 (GRCm39) |
E12G |
probably benign |
Het |
Ift74 |
C |
T |
4: 94,567,492 (GRCm39) |
T395I |
probably benign |
Het |
Irf8 |
A |
T |
8: 121,466,714 (GRCm39) |
D53V |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,803,813 (GRCm39) |
Y69C |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,096,111 (GRCm39) |
R2084L |
probably benign |
Het |
Krt4 |
C |
A |
15: 101,831,217 (GRCm39) |
S228I |
possibly damaging |
Het |
Lpin3 |
A |
T |
2: 160,740,601 (GRCm39) |
D382V |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,802,171 (GRCm39) |
|
probably null |
Het |
Map4k3 |
C |
T |
17: 80,952,270 (GRCm39) |
A179T |
probably damaging |
Het |
Nck1 |
A |
T |
9: 100,379,820 (GRCm39) |
W144R |
probably damaging |
Het |
Ndufb9 |
A |
T |
15: 58,811,131 (GRCm39) |
Q139L |
possibly damaging |
Het |
Ngfr |
T |
G |
11: 95,462,738 (GRCm39) |
E300A |
probably damaging |
Het |
Nin |
T |
G |
12: 70,061,649 (GRCm39) |
T2072P |
probably damaging |
Het |
Nop2 |
T |
G |
6: 125,118,307 (GRCm39) |
L529R |
probably damaging |
Het |
Nrm |
T |
A |
17: 36,175,503 (GRCm39) |
L203Q |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,109,255 (GRCm39) |
F1454S |
probably benign |
Het |
Or10ak7 |
T |
A |
4: 118,791,467 (GRCm39) |
M191L |
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,646 (GRCm39) |
T16A |
possibly damaging |
Het |
Or8j3c |
A |
C |
2: 86,253,451 (GRCm39) |
S190A |
probably damaging |
Het |
Os9 |
A |
G |
10: 126,956,905 (GRCm39) |
V27A |
probably damaging |
Het |
Osbpl9 |
T |
G |
4: 108,930,321 (GRCm39) |
T332P |
probably damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,547,059 (GRCm39) |
M712L |
probably benign |
Het |
Pcx |
C |
T |
19: 4,670,227 (GRCm39) |
A935V |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,022,106 (GRCm39) |
V514A |
possibly damaging |
Het |
Plin4 |
C |
T |
17: 56,409,242 (GRCm39) |
G1326D |
probably damaging |
Het |
Plxnb1 |
T |
A |
9: 108,932,731 (GRCm39) |
Y568* |
probably null |
Het |
Pmfbp1 |
T |
A |
8: 110,268,372 (GRCm39) |
V973D |
probably benign |
Het |
Ppp2r1b |
T |
C |
9: 50,772,925 (GRCm39) |
V70A |
probably benign |
Het |
Prkar2b |
C |
A |
12: 32,022,183 (GRCm39) |
V201L |
probably benign |
Het |
Rgr |
T |
G |
14: 36,768,925 (GRCm39) |
T37P |
probably damaging |
Het |
Ripk3 |
A |
T |
14: 56,025,375 (GRCm39) |
L63Q |
probably damaging |
Het |
Rpusd2 |
A |
G |
2: 118,868,893 (GRCm39) |
S439G |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,100,335 (GRCm39) |
R438S |
possibly damaging |
Het |
Slc19a1 |
T |
A |
10: 76,874,300 (GRCm39) |
S24T |
possibly damaging |
Het |
Slc6a21 |
A |
C |
7: 44,937,667 (GRCm39) |
T653P |
possibly damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spdef |
C |
T |
17: 27,933,894 (GRCm39) |
R309H |
probably damaging |
Het |
Srp68 |
A |
T |
11: 116,156,377 (GRCm39) |
Y84N |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,144,731 (GRCm39) |
Q6299L |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,972,839 (GRCm39) |
M652L |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnk1 |
A |
G |
11: 69,746,007 (GRCm39) |
V306A |
probably damaging |
Het |
Tnnc2 |
T |
A |
2: 164,619,404 (GRCm39) |
I147F |
probably damaging |
Het |
Tnni3k |
C |
T |
3: 154,760,981 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
T |
A |
17: 72,036,243 (GRCm39) |
V911D |
probably damaging |
Het |
Tyw3 |
T |
C |
3: 154,293,132 (GRCm39) |
N181S |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,039,051 (GRCm39) |
S682T |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,841,348 (GRCm39) |
L2634S |
probably benign |
Het |
Wasl |
G |
T |
6: 24,633,892 (GRCm39) |
A124E |
probably damaging |
Het |
Zfp287 |
T |
C |
11: 62,605,743 (GRCm39) |
H388R |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,749,612 (GRCm39) |
T262A |
probably damaging |
Het |
Zfp457 |
C |
G |
13: 67,441,211 (GRCm39) |
G359R |
probably benign |
Het |
Zfp536 |
T |
A |
7: 37,267,874 (GRCm39) |
E514V |
probably damaging |
Het |
Zfp872 |
T |
A |
9: 22,111,469 (GRCm39) |
I316N |
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 |
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 |
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'- TTACACACATAGATCGCATATCCTCCCC -3'
(R):5'- GTTTCCCATTGAAGACATTGTCCGCA -3'
Sequencing Primer
(F):5'- CCACTCCCCTCTGGTTAAACAC -3'
(R):5'- AGTGTTAGTGAACCTTGACATTCCC -3'
|
Posted On |
2013-05-09 |