Incidental Mutation 'R1769:Abcc9'
| ID |
194692 |
| 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 |
039800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 142573194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144779
(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
|
| SMART Domains |
Protein: ENSMUSP00000098390
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 |
7.1e-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 |
noncoding transcript
Transcript: ENSMUST00000194811
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,644,519 (GRCm39) |
I135V |
probably benign |
Het |
| Abca1 |
T |
A |
4: 53,074,325 (GRCm39) |
K1119N |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,809 (GRCm39) |
E476G |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,740 (GRCm39) |
F271S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,586 (GRCm39) |
V847A |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,859,883 (GRCm39) |
N381S |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,907,520 (GRCm39) |
L871Q |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,715,795 (GRCm39) |
H104Q |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,568 (GRCm39) |
M165V |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,843,618 (GRCm39) |
M431K |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 109,980,606 (GRCm39) |
T178I |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,301 (GRCm39) |
T348I |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,125 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
A |
T |
4: 148,098,758 (GRCm39) |
|
probably null |
Het |
| Csf3 |
A |
G |
11: 98,593,246 (GRCm39) |
Y121C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,505 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,864,815 (GRCm39) |
I221T |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,675,115 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,250 (GRCm39) |
F474S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,032,839 (GRCm39) |
I399V |
probably null |
Het |
| Efcab14 |
T |
A |
4: 115,610,188 (GRCm39) |
L183Q |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,489,501 (GRCm39) |
V88A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,109 (GRCm39) |
N730S |
probably benign |
Het |
| Farsb |
T |
A |
1: 78,443,620 (GRCm39) |
K196I |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,735,682 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
A |
G |
3: 84,356,085 (GRCm39) |
F453S |
probably damaging |
Het |
| Gast |
T |
A |
11: 100,227,684 (GRCm39) |
W89R |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,237 (GRCm39) |
S402G |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,720,162 (GRCm39) |
S386T |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,363 (GRCm39) |
E1870G |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,954,768 (GRCm39) |
V1028E |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Ifi209 |
G |
A |
1: 173,468,728 (GRCm39) |
S186N |
probably benign |
Het |
| Ifih1 |
C |
T |
2: 62,436,738 (GRCm39) |
A562T |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,014,481 (GRCm39) |
L106S |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,050 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,199,234 (GRCm39) |
S141G |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra3 |
T |
C |
6: 130,307,226 (GRCm39) |
|
probably null |
Het |
| Lama2 |
G |
C |
10: 27,084,403 (GRCm39) |
F922L |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,084,402 (GRCm39) |
S923T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,597,873 (GRCm39) |
V331M |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,676 (GRCm39) |
*301W |
probably null |
Het |
| Map1lc3b |
C |
T |
8: 122,320,226 (GRCm39) |
|
probably benign |
Het |
| Mbd2 |
A |
G |
18: 70,749,690 (GRCm39) |
I302V |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,390,307 (GRCm39) |
Y78C |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,996,771 (GRCm39) |
|
probably null |
Het |
| Mideas |
G |
A |
12: 84,205,124 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 151,993,191 (GRCm39) |
E346G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,957,363 (GRCm39) |
S131P |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,069,527 (GRCm39) |
H899R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,556 (GRCm39) |
|
probably benign |
Het |
| Ngf |
T |
A |
3: 102,427,513 (GRCm39) |
N87K |
possibly damaging |
Het |
| Nol10 |
T |
A |
12: 17,466,709 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,385,231 (GRCm39) |
I221V |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,182,366 (GRCm39) |
G777D |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,344 (GRCm39) |
F211L |
probably benign |
Het |
| Or5b96 |
A |
G |
19: 12,867,047 (GRCm39) |
V298A |
probably damaging |
Het |
| Or6c1 |
T |
A |
10: 129,518,081 (GRCm39) |
T176S |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,682 (GRCm39) |
Q283L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,251 (GRCm39) |
D232Y |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,220 (GRCm39) |
R31W |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,603,246 (GRCm39) |
S2248P |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,080,561 (GRCm39) |
S616P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,540 (GRCm39) |
Y379C |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,159 (GRCm39) |
N540D |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,746 (GRCm39) |
H255Y |
possibly damaging |
Het |
| Rad21 |
T |
C |
15: 51,835,703 (GRCm39) |
N237D |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,582,113 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
C |
A |
10: 21,873,007 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
T |
7: 16,531,464 (GRCm39) |
A490S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,326 (GRCm39) |
Y478H |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,328 (GRCm39) |
Y478* |
probably null |
Het |
| Slc9a3 |
A |
T |
13: 74,311,190 (GRCm39) |
M562L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,568,801 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,555,714 (GRCm39) |
R57* |
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,657,167 (GRCm39) |
R690G |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,727,365 (GRCm39) |
S47P |
probably damaging |
Het |
| Trim39 |
C |
T |
17: 36,574,832 (GRCm39) |
R190Q |
probably damaging |
Het |
| Ttc32 |
A |
T |
12: 9,085,073 (GRCm39) |
I98L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,873,003 (GRCm39) |
T3304A |
probably benign |
Het |
| Wdr35 |
A |
C |
12: 9,062,728 (GRCm39) |
D638A |
probably damaging |
Het |
| Wwc1 |
G |
T |
11: 35,752,671 (GRCm39) |
P797T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,780 (GRCm39) |
T800S |
unknown |
Het |
| Zbbx |
A |
G |
3: 74,990,926 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,811,172 (GRCm39) |
M291V |
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 |
|
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'- AAACCGATTGAGGATCAGCCCCAG -3'
(R):5'- TCTAAACGCAAGCCAGACAAGGATG -3'
Sequencing Primer
(F):5'- GCAAAGAGTCCGTGGTGTG -3'
(R):5'- CAAGGATGCCAAGAGTCTTTCTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation