Incidental Mutation 'R7062:Abcc9'
| ID |
548333 |
| 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 |
045158-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142533588-142648041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142544872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1370
(D1370V)
|
| 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: D1370V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: D1370V
| 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: D1405V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: D1405V
| 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: D1405V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: D1405V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
93 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
297 |
583 |
7.1e-35 |
PFAM |
|
AAA
|
694 |
902 |
3.11e-13 |
SMART |
|
coiled coil region
|
916 |
970 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
991 |
1263 |
5.2e-38 |
PFAM |
|
AAA
|
1335 |
1520 |
5.13e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111771
AA Change: D1392V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: D1392V
| 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: D1370V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: D1370V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (86/87) |
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The human protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
T |
1: 173,159,682 (GRCm39) |
I279N |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,366,091 (GRCm39) |
H536R |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,166 (GRCm39) |
T226A |
possibly damaging |
Het |
| Apol10b |
T |
A |
15: 77,469,473 (GRCm39) |
M235L |
probably benign |
Het |
| Arhgap44 |
T |
C |
11: 64,902,758 (GRCm39) |
T570A |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,516,081 (GRCm39) |
|
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,657,834 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,782,223 (GRCm39) |
A193V |
probably damaging |
Het |
| Ccl20 |
G |
A |
1: 83,095,535 (GRCm39) |
C32Y |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,268 (GRCm39) |
E16G |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,309,826 (GRCm39) |
N1591I |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,456,785 (GRCm39) |
E306G |
probably benign |
Het |
| Cpa1 |
C |
T |
6: 30,640,676 (GRCm39) |
A106V |
probably benign |
Het |
| Ctdspl |
G |
A |
9: 118,866,538 (GRCm39) |
R199H |
probably damaging |
Het |
| Cyfip2 |
G |
A |
11: 46,151,659 (GRCm39) |
P547S |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,990 (GRCm39) |
|
probably null |
Het |
| Dnajc16 |
A |
G |
4: 141,494,001 (GRCm39) |
F549L |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 161,962,060 (GRCm39) |
K50* |
probably null |
Het |
| Eci1 |
C |
T |
17: 24,645,714 (GRCm39) |
|
probably benign |
Het |
| Eif2b4 |
C |
T |
5: 31,350,175 (GRCm39) |
C49Y |
probably benign |
Het |
| Emc3 |
A |
T |
6: 113,499,757 (GRCm39) |
I56N |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,336,745 (GRCm39) |
L563P |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,950,811 (GRCm39) |
I635K |
probably damaging |
Het |
| Espl1 |
A |
C |
15: 102,207,331 (GRCm39) |
N265T |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,042,962 (GRCm39) |
|
probably null |
Het |
| Fam186a |
G |
A |
15: 99,831,521 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
A |
T |
2: 69,534,666 (GRCm39) |
I368K |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,253 (GRCm39) |
M1I |
probably null |
Het |
| Foxj1 |
T |
C |
11: 116,222,819 (GRCm39) |
E328G |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,449,508 (GRCm39) |
|
probably benign |
Het |
| Gm6525 |
C |
T |
3: 84,082,198 (GRCm39) |
R40C |
probably benign |
Het |
| Gna12 |
G |
A |
5: 140,771,240 (GRCm39) |
T144I |
probably benign |
Het |
| Ighv9-3 |
T |
C |
12: 114,104,712 (GRCm39) |
M11V |
probably benign |
Het |
| Kcnj14 |
T |
C |
7: 45,467,314 (GRCm39) |
Y344C |
probably damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,323,737 (GRCm39) |
S496T |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,224,491 (GRCm39) |
T78A |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,712,072 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
A |
G |
14: 56,298,125 (GRCm39) |
M142T |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,541,177 (GRCm39) |
F1154S |
probably damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,361,650 (GRCm39) |
L12F |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,047,501 (GRCm39) |
V308I |
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,529,707 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,167,807 (GRCm39) |
M995L |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,939,899 (GRCm39) |
I617T |
probably benign |
Het |
| Oas1h |
C |
A |
5: 120,999,528 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
T |
A |
5: 115,049,152 (GRCm39) |
Y197* |
probably null |
Het |
| Or4k1 |
A |
G |
14: 50,377,907 (GRCm39) |
L63P |
probably damaging |
Het |
| Or52ab7 |
T |
C |
7: 102,978,293 (GRCm39) |
V200A |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,089 (GRCm39) |
N312S |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,568 (GRCm39) |
E3G |
probably benign |
Het |
| Or5p70 |
C |
T |
7: 107,995,037 (GRCm39) |
R237* |
probably null |
Het |
| Or8g35 |
A |
T |
9: 39,381,353 (GRCm39) |
I223N |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,029,537 (GRCm39) |
V27A |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,852,216 (GRCm39) |
R799S |
possibly damaging |
Het |
| Pcdhga1 |
C |
A |
18: 37,958,130 (GRCm39) |
S826R |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,607,432 (GRCm39) |
R1258G |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,210 (GRCm39) |
S21G |
probably benign |
Het |
| Ppp1r18 |
C |
A |
17: 36,179,103 (GRCm39) |
T326K |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,521 (GRCm39) |
L106P |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,054,220 (GRCm39) |
D265E |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,619 (GRCm39) |
L554P |
possibly damaging |
Het |
| Rnf17 |
G |
T |
14: 56,703,111 (GRCm39) |
V621L |
probably benign |
Het |
| Sart3 |
T |
C |
5: 113,883,663 (GRCm39) |
K783R |
possibly damaging |
Het |
| Slc23a2 |
T |
A |
2: 131,933,189 (GRCm39) |
I90F |
probably damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,212 (GRCm39) |
M331L |
probably damaging |
Het |
| Slc5a7 |
C |
G |
17: 54,600,029 (GRCm39) |
G128A |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,671,180 (GRCm39) |
Q776L |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,835 (GRCm39) |
D519E |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,830,356 (GRCm39) |
|
probably null |
Het |
| Spata18 |
T |
A |
5: 73,816,636 (GRCm39) |
N125K |
probably benign |
Het |
| Spice1 |
T |
A |
16: 44,178,259 (GRCm39) |
M94K |
probably damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,587 (GRCm39) |
|
probably null |
Het |
| Stx17 |
A |
G |
4: 48,140,442 (GRCm39) |
D49G |
probably benign |
Het |
| Tbce |
T |
C |
13: 14,194,380 (GRCm39) |
D93G |
possibly damaging |
Het |
| Tbx21 |
T |
A |
11: 96,989,719 (GRCm39) |
D491V |
probably damaging |
Het |
| Tmbim4 |
G |
T |
10: 120,044,731 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
C |
T |
6: 30,502,016 (GRCm39) |
R62H |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,158,771 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
T |
C |
10: 80,730,883 (GRCm39) |
I803T |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,292 (GRCm39) |
A7T |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,115,881 (GRCm39) |
D107G |
probably benign |
Het |
| Uso1 |
C |
A |
5: 92,340,599 (GRCm39) |
Q672K |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,196,949 (GRCm39) |
N239K |
possibly damaging |
Het |
| Zfp661 |
A |
G |
2: 127,419,040 (GRCm39) |
C367R |
probably damaging |
Het |
| Znrf3 |
T |
A |
11: 5,231,550 (GRCm39) |
E558D |
probably damaging |
Het |
|
| Other mutations in Abcc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Abcc9
|
APN |
6 |
142,578,916 (GRCm39) |
splice site |
probably benign |
|
|
IGL00670:Abcc9
|
APN |
6 |
142,633,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00675:Abcc9
|
APN |
6 |
142,610,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00741:Abcc9
|
APN |
6 |
142,632,956 (GRCm39) |
missense |
probably benign |
|
|
IGL01371:Abcc9
|
APN |
6 |
142,602,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01686:Abcc9
|
APN |
6 |
142,548,801 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01724:Abcc9
|
APN |
6 |
142,610,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01807:Abcc9
|
APN |
6 |
142,551,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01941:Abcc9
|
APN |
6 |
142,551,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Abcc9
|
APN |
6 |
142,571,763 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02210:Abcc9
|
APN |
6 |
142,633,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:Abcc9
|
APN |
6 |
142,617,265 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02535:Abcc9
|
APN |
6 |
142,574,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02552:Abcc9
|
APN |
6 |
142,551,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02812:Abcc9
|
APN |
6 |
142,643,516 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02954:Abcc9
|
APN |
6 |
142,592,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03035:Abcc9
|
APN |
6 |
142,573,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03040:Abcc9
|
APN |
6 |
142,598,323 (GRCm39) |
nonsense |
probably null |
|
|
IGL03100:Abcc9
|
APN |
6 |
142,640,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03157:Abcc9
|
APN |
6 |
142,551,649 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Abcc9
|
UTSW |
6 |
142,547,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0054:Abcc9
|
UTSW |
6 |
142,547,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0084:Abcc9
|
UTSW |
6 |
142,604,277 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0211:Abcc9
|
UTSW |
6 |
142,634,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0349:Abcc9
|
UTSW |
6 |
142,610,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0387:Abcc9
|
UTSW |
6 |
142,585,230 (GRCm39) |
nonsense |
probably null |
|
|
R0393:Abcc9
|
UTSW |
6 |
142,591,604 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Abcc9
|
UTSW |
6 |
142,638,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Abcc9
|
UTSW |
6 |
142,548,787 (GRCm39) |
nonsense |
probably null |
|
|
R0646:Abcc9
|
UTSW |
6 |
142,627,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0691:Abcc9
|
UTSW |
6 |
142,584,979 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0881:Abcc9
|
UTSW |
6 |
142,592,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Abcc9
|
UTSW |
6 |
142,592,103 (GRCm39) |
splice site |
probably benign |
|
|
R1340:Abcc9
|
UTSW |
6 |
142,628,581 (GRCm39) |
splice site |
probably benign |
|
|
R1413:Abcc9
|
UTSW |
6 |
142,573,245 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1413:Abcc9
|
UTSW |
6 |
142,536,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Abcc9
|
UTSW |
6 |
142,610,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Abcc9
|
UTSW |
6 |
142,578,821 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1670:Abcc9
|
UTSW |
6 |
142,540,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1769:Abcc9
|
UTSW |
6 |
142,573,194 (GRCm39) |
splice site |
probably benign |
|
|
R1888:Abcc9
|
UTSW |
6 |
142,625,040 (GRCm39) |
missense |
probably benign |
|
|
R1888:Abcc9
|
UTSW |
6 |
142,625,040 (GRCm39) |
missense |
probably benign |
|
|
R1918:Abcc9
|
UTSW |
6 |
142,643,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Abcc9
|
UTSW |
6 |
142,617,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2019:Abcc9
|
UTSW |
6 |
142,621,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Abcc9
|
UTSW |
6 |
142,578,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2860:Abcc9
|
UTSW |
6 |
142,571,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Abcc9
|
UTSW |
6 |
142,571,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2980:Abcc9
|
UTSW |
6 |
142,633,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3115:Abcc9
|
UTSW |
6 |
142,634,755 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3617:Abcc9
|
UTSW |
6 |
142,625,015 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3880:Abcc9
|
UTSW |
6 |
142,584,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Abcc9
|
UTSW |
6 |
142,551,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4065:Abcc9
|
UTSW |
6 |
142,591,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Abcc9
|
UTSW |
6 |
142,539,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4538:Abcc9
|
UTSW |
6 |
142,560,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4615:Abcc9
|
UTSW |
6 |
142,634,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4659:Abcc9
|
UTSW |
6 |
142,618,321 (GRCm39) |
splice site |
probably null |
|
|
R4774:Abcc9
|
UTSW |
6 |
142,585,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Abcc9
|
UTSW |
6 |
142,566,456 (GRCm39) |
nonsense |
probably null |
|
|
R4832:Abcc9
|
UTSW |
6 |
142,617,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Abcc9
|
UTSW |
6 |
142,634,824 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4903:Abcc9
|
UTSW |
6 |
142,546,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Abcc9
|
UTSW |
6 |
142,536,162 (GRCm39) |
missense |
probably benign |
|
|
R4960:Abcc9
|
UTSW |
6 |
142,566,509 (GRCm39) |
splice site |
probably null |
|
|
R4983:Abcc9
|
UTSW |
6 |
142,627,867 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4986:Abcc9
|
UTSW |
6 |
142,573,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Abcc9
|
UTSW |
6 |
142,571,836 (GRCm39) |
intron |
probably benign |
|
|
R5120:Abcc9
|
UTSW |
6 |
142,602,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5198:Abcc9
|
UTSW |
6 |
142,571,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5301:Abcc9
|
UTSW |
6 |
142,536,207 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5328:Abcc9
|
UTSW |
6 |
142,627,785 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5568:Abcc9
|
UTSW |
6 |
142,634,742 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5654:Abcc9
|
UTSW |
6 |
142,571,371 (GRCm39) |
intron |
probably benign |
|
|
R5694:Abcc9
|
UTSW |
6 |
142,546,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Abcc9
|
UTSW |
6 |
142,571,457 (GRCm39) |
intron |
probably benign |
|
|
R5774:Abcc9
|
UTSW |
6 |
142,574,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Abcc9
|
UTSW |
6 |
142,602,402 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5890:Abcc9
|
UTSW |
6 |
142,550,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5946:Abcc9
|
UTSW |
6 |
142,571,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5971:Abcc9
|
UTSW |
6 |
142,585,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6078:Abcc9
|
UTSW |
6 |
142,585,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Abcc9
|
UTSW |
6 |
142,627,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Abcc9
|
UTSW |
6 |
142,638,435 (GRCm39) |
makesense |
probably null |
|
|
R6478:Abcc9
|
UTSW |
6 |
142,625,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Abcc9
|
UTSW |
6 |
142,550,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6564:Abcc9
|
UTSW |
6 |
142,548,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Abcc9
|
UTSW |
6 |
142,633,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6902:Abcc9
|
UTSW |
6 |
142,624,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Abcc9
|
UTSW |
6 |
142,624,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Abcc9
|
UTSW |
6 |
142,634,707 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7052:Abcc9
|
UTSW |
6 |
142,604,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATCACGCAGTTCTATCAGAGTG -3'
(R):5'- CAGTACGGCTTCAACTTGTATC -3'
Sequencing Primer
(F):5'- ACGCAGTTCTATCAGAGTGTGGAG -3'
(R):5'- GATACACTCCGAATACTTCTGTTGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation