Incidental Mutation 'R4832:Abcc9'
| ID |
372901 |
| 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 |
042448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4832 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142617282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 594
(V594A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073173]
[ENSMUST00000087527]
[ENSMUST00000100827]
[ENSMUST00000111771]
[ENSMUST00000205202]
|
| AlphaFold |
P70170 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073173
AA Change: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: V594A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: V594A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: V594A
| 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 |
possibly damaging
Transcript: ENSMUST00000111771
AA Change: V594A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: V594A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: V594A
| 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 |
0.4136 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (106/108) |
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,597 (GRCm39) |
V186A |
possibly damaging |
Het |
| 1700088E04Rik |
A |
T |
15: 79,019,409 (GRCm39) |
M198K |
probably damaging |
Het |
| 4933402J07Rik |
A |
G |
8: 88,294,601 (GRCm39) |
K84R |
probably null |
Het |
| Aamdc |
T |
C |
7: 97,199,773 (GRCm39) |
|
probably null |
Het |
| Adamts13 |
G |
A |
2: 26,879,414 (GRCm39) |
D656N |
probably benign |
Het |
| Adcy10 |
G |
T |
1: 165,334,213 (GRCm39) |
C122F |
probably damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,252 (GRCm39) |
M1V |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Akt1 |
G |
T |
12: 112,623,521 (GRCm39) |
P313Q |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,498,067 (GRCm39) |
M758K |
probably damaging |
Het |
| Baz2a |
T |
A |
10: 127,958,999 (GRCm39) |
N1168K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bcap29 |
A |
G |
12: 31,674,202 (GRCm39) |
I131T |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,694,616 (GRCm39) |
L1626I |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,732,966 (GRCm39) |
D299G |
possibly damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,222,524 (GRCm39) |
I73T |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,760,754 (GRCm39) |
S538P |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,390 (GRCm39) |
M1551L |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,151,873 (GRCm39) |
A243V |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,845 (GRCm39) |
N665K |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,360,749 (GRCm39) |
T262I |
possibly damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,098 (GRCm39) |
I149V |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,534,970 (GRCm39) |
|
probably null |
Het |
| Dab2 |
A |
G |
15: 6,366,080 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
A |
11: 117,917,606 (GRCm39) |
I4158F |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,385,975 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
A |
T |
2: 25,242,398 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,780,776 (GRCm39) |
I642F |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,369,397 (GRCm39) |
S415G |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,530,683 (GRCm39) |
T439A |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,466,102 (GRCm39) |
V1431M |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,223,305 (GRCm39) |
A884T |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,515 (GRCm39) |
D5416G |
possibly damaging |
Het |
| Gabarap |
C |
T |
11: 69,882,678 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
T |
C |
7: 33,938,333 (GRCm39) |
|
probably benign |
Het |
| Gm11544 |
C |
T |
11: 94,736,532 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,964 (GRCm39) |
K304Q |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,840 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd4 |
C |
T |
15: 86,019,057 (GRCm39) |
A575V |
probably benign |
Het |
| Gtpbp10 |
G |
A |
5: 5,589,295 (GRCm39) |
A274V |
possibly damaging |
Het |
| Gzmb |
A |
G |
14: 56,497,679 (GRCm39) |
I187T |
probably damaging |
Het |
| H2-M10.2 |
G |
A |
17: 36,595,219 (GRCm39) |
T315I |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,356,452 (GRCm39) |
F524I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,403,253 (GRCm39) |
S4391G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,748,165 (GRCm39) |
L511* |
probably null |
Het |
| Htt |
T |
A |
5: 34,982,184 (GRCm39) |
C923S |
probably benign |
Het |
| Idua |
T |
C |
5: 108,817,247 (GRCm39) |
S7P |
probably benign |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,466 (GRCm39) |
L112Q |
probably damaging |
Het |
| Igkv1-110 |
A |
G |
6: 68,248,185 (GRCm39) |
K98R |
probably benign |
Het |
| Kif15 |
G |
A |
9: 122,831,191 (GRCm39) |
|
probably null |
Het |
| Leng9 |
C |
A |
7: 4,152,029 (GRCm39) |
G216W |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,014,584 (GRCm39) |
L1306S |
probably benign |
Het |
| Lztfl1 |
C |
A |
9: 123,544,454 (GRCm39) |
E20D |
possibly damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,490,667 (GRCm39) |
E255K |
probably damaging |
Het |
| Megf9 |
G |
A |
4: 70,452,665 (GRCm39) |
T132M |
probably damaging |
Het |
| Mob4 |
T |
C |
1: 55,184,411 (GRCm39) |
|
probably benign |
Het |
| Mttp |
G |
A |
3: 137,821,811 (GRCm39) |
A252V |
probably benign |
Het |
| Mxi1 |
A |
G |
19: 53,358,745 (GRCm39) |
D226G |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,566 (GRCm39) |
S1249P |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,742,737 (GRCm39) |
G1083D |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,905,960 (GRCm39) |
I408L |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,533,740 (GRCm39) |
S1792G |
probably benign |
Het |
| Nelfb |
A |
G |
2: 25,099,981 (GRCm39) |
V212A |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,899,587 (GRCm39) |
|
probably benign |
Het |
| Nqo1 |
C |
G |
8: 108,115,477 (GRCm39) |
D267H |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,190 (GRCm39) |
L310F |
probably benign |
Het |
| Pcid2 |
T |
A |
8: 13,135,425 (GRCm39) |
I195F |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,478,927 (GRCm39) |
M2107K |
probably damaging |
Het |
| Pgd |
A |
T |
4: 149,241,048 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
T |
C |
1: 33,503,145 (GRCm39) |
M430V |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,101 (GRCm39) |
T40A |
probably damaging |
Het |
| Ptges |
T |
C |
2: 30,793,232 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
T |
C |
1: 75,234,909 (GRCm39) |
E226G |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,079,978 (GRCm39) |
F55S |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,684,637 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
C |
T |
17: 26,426,542 (GRCm39) |
H258Y |
probably benign |
Het |
| Rhpn2 |
T |
C |
7: 35,075,774 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
A |
T |
3: 95,681,483 (GRCm39) |
V452E |
probably damaging |
Het |
| Scube3 |
C |
A |
17: 28,384,989 (GRCm39) |
H646Q |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,953,909 (GRCm39) |
I70F |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,426,849 (GRCm39) |
I153V |
probably damaging |
Het |
| Sh3rf3 |
G |
A |
10: 58,649,905 (GRCm39) |
S170N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 112,000,963 (GRCm39) |
I353F |
possibly damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,657,780 (GRCm39) |
I41T |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,881 (GRCm39) |
F129S |
probably damaging |
Het |
| Top3b |
C |
T |
16: 16,708,526 (GRCm39) |
R629* |
probably null |
Het |
| Trim17 |
T |
A |
11: 58,862,270 (GRCm39) |
V434E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,615,327 (GRCm39) |
P15051L |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,239,259 (GRCm39) |
I1391N |
probably damaging |
Het |
| Usp8 |
A |
T |
2: 126,596,958 (GRCm39) |
M923L |
probably damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,463 (GRCm39) |
H230R |
possibly damaging |
Het |
| Vmn1r217 |
C |
A |
13: 23,298,159 (GRCm39) |
D248Y |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,976 (GRCm39) |
C647S |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,332,851 (GRCm39) |
I237T |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,391,423 (GRCm39) |
D4687V |
unknown |
Het |
| Zfp273 |
T |
C |
13: 67,973,484 (GRCm39) |
V204A |
probably benign |
Het |
| Zfp956 |
T |
G |
6: 47,928,987 (GRCm39) |
|
probably benign |
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 |
|
|
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'- TCTAACAGTGGGAATCTTTGCAC -3'
(R):5'- GCACAGTAGGATTCGCTAGG -3'
Sequencing Primer
(F):5'- GTGGGAATCTTTGCACATCATTTTC -3'
(R):5'- AGTTGAGTGTCAGCATGCATACC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation