Incidental Mutation 'R5120:Abcc9'
| ID |
392923 |
| 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 |
042708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142602344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 690
(I690F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
| AlphaFold |
P70170 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073173
AA Change: I655F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: I655F
| 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: I690F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: I690F
| 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: I690F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: I690F
| 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: I690F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: I690F
| 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: I655F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: I655F
| 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 |
0.0998 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| Validation Efficiency |
100% (97/97) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,101,061 (GRCm39) |
H225R |
probably benign |
Het |
| Acp4 |
A |
T |
7: 43,906,395 (GRCm39) |
D52E |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,393,020 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,872 (GRCm39) |
E221G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,540 (GRCm39) |
T208A |
probably benign |
Het |
| Apoa4 |
T |
G |
9: 46,154,035 (GRCm39) |
I212S |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,964,211 (GRCm39) |
M1598K |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,650,680 (GRCm39) |
R209Q |
probably damaging |
Het |
| Ccdc171 |
C |
A |
4: 83,476,763 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
C |
3: 108,300,436 (GRCm39) |
P2875A |
probably benign |
Het |
| Cenpb |
A |
G |
2: 131,021,738 (GRCm39) |
V20A |
probably benign |
Het |
| Cfap61 |
A |
T |
2: 145,985,080 (GRCm39) |
K975* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,841 (GRCm39) |
S226G |
probably benign |
Het |
| Col9a2 |
G |
T |
4: 120,896,969 (GRCm39) |
A20S |
unknown |
Het |
| Crnn |
A |
T |
3: 93,056,203 (GRCm39) |
I330F |
probably benign |
Het |
| Csf3r |
C |
A |
4: 125,929,620 (GRCm39) |
P381Q |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,891 (GRCm39) |
Q104* |
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,315,607 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
C |
T |
9: 3,418,761 (GRCm39) |
Q183* |
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,398,940 (GRCm39) |
Y220H |
probably benign |
Het |
| Dhh |
T |
C |
15: 98,796,038 (GRCm39) |
Q39R |
probably benign |
Het |
| Dynlrb2 |
T |
A |
8: 117,242,437 (GRCm39) |
I89N |
possibly damaging |
Het |
| Dytn |
T |
C |
1: 63,662,202 (GRCm39) |
E645G |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,754,688 (GRCm39) |
T287A |
probably damaging |
Het |
| Eogt |
A |
G |
6: 97,111,276 (GRCm39) |
V195A |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,904,224 (GRCm39) |
P125Q |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,702,217 (GRCm39) |
V1815A |
probably benign |
Het |
| Gm5866 |
T |
C |
5: 52,740,224 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
C |
A |
13: 50,055,984 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat4 |
G |
T |
8: 23,670,218 (GRCm39) |
H270Q |
possibly damaging |
Het |
| Grik5 |
A |
G |
7: 24,710,065 (GRCm39) |
L890P |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,474,934 (GRCm39) |
N500S |
probably damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,048 (GRCm39) |
D173G |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,901,240 (GRCm39) |
I413F |
possibly damaging |
Het |
| Ighv1-52 |
G |
T |
12: 115,109,406 (GRCm39) |
H17N |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,424,516 (GRCm39) |
D270E |
possibly damaging |
Het |
| Kif16b |
A |
C |
2: 142,690,259 (GRCm39) |
N274K |
probably damaging |
Het |
| Klk1b11 |
C |
T |
7: 43,648,446 (GRCm39) |
T151I |
probably benign |
Het |
| Krtap13 |
A |
G |
16: 88,548,458 (GRCm39) |
F10S |
probably damaging |
Het |
| Large1 |
A |
T |
8: 73,585,969 (GRCm39) |
I379N |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,017,332 (GRCm39) |
H301R |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,021 (GRCm39) |
V252A |
probably benign |
Het |
| Lysmd3 |
T |
A |
13: 81,817,311 (GRCm39) |
I96N |
probably damaging |
Het |
| Mpeg1 |
C |
T |
19: 12,438,793 (GRCm39) |
Q84* |
probably null |
Het |
| Myoz1 |
C |
T |
14: 20,700,722 (GRCm39) |
G165D |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,413 (GRCm39) |
V312I |
probably benign |
Het |
| Ndufb7 |
T |
C |
8: 84,293,606 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
C |
T |
7: 101,626,644 (GRCm39) |
T10M |
probably damaging |
Het |
| Or10d1b |
T |
A |
9: 39,613,366 (GRCm39) |
H233L |
probably benign |
Het |
| Or1e30 |
A |
C |
11: 73,677,790 (GRCm39) |
I9L |
probably benign |
Het |
| Or2g7 |
A |
T |
17: 38,378,157 (GRCm39) |
I32F |
probably damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,903 (GRCm39) |
D84E |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,585 (GRCm39) |
|
noncoding transcript |
Het |
| Osmr |
A |
T |
15: 6,856,756 (GRCm39) |
S464T |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,925,149 (GRCm39) |
H718Y |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,864 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
C |
9: 105,546,208 (GRCm39) |
S853P |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Polr3gl |
T |
A |
3: 96,485,795 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,112,863 (GRCm39) |
R186Q |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,295,450 (GRCm39) |
V868A |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,004 (GRCm39) |
T852K |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,822,435 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,186,122 (GRCm39) |
G329C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,317,423 (GRCm39) |
T714A |
probably benign |
Het |
| Selenoo |
C |
A |
15: 88,978,508 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,003 (GRCm39) |
Q258R |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,420 (GRCm39) |
S226G |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,851,754 (GRCm39) |
K627E |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,677 (GRCm39) |
F1027I |
probably damaging |
Het |
| Ssh1 |
C |
G |
5: 114,095,459 (GRCm39) |
V228L |
possibly damaging |
Het |
| Sugp1 |
C |
A |
8: 70,501,317 (GRCm39) |
P65T |
probably benign |
Het |
| Tas2r106 |
T |
A |
6: 131,655,779 (GRCm39) |
N24I |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,272 (GRCm39) |
E534G |
possibly damaging |
Het |
| Tmem182 |
C |
T |
1: 40,894,061 (GRCm39) |
T192I |
possibly damaging |
Het |
| Traf7 |
T |
A |
17: 24,737,718 (GRCm39) |
K51* |
probably null |
Het |
| Trap1 |
C |
A |
16: 3,861,952 (GRCm39) |
R604L |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,877,447 (GRCm39) |
L179Q |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,670,973 (GRCm39) |
S264P |
probably damaging |
Het |
| Upk3bl |
T |
C |
5: 136,093,045 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,015,972 (GRCm39) |
Q2601L |
possibly damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,412 (GRCm39) |
Y281H |
probably damaging |
Het |
| Zfp286 |
A |
T |
11: 62,671,551 (GRCm39) |
M174K |
probably benign |
Het |
| Zmym1 |
T |
C |
4: 126,945,230 (GRCm39) |
|
probably null |
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 |
|
|
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'- AAAACTCCTGTAATGGGGCAG -3'
(R):5'- CCTATCACTAGGCTGTGTTCTGTG -3'
Sequencing Primer
(F):5'- CTTGTAATCAGCCCTGCAAGATGG -3'
(R):5'- GTTACAGTGTTAAACTTCTGGAAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation