Incidental Mutation 'R1463:Abca5'
| ID |
159246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca5
|
| Ensembl Gene |
ENSMUSG00000018800 |
| Gene Name |
ATP-binding cassette, sub-family A member 5 |
| Synonyms |
ABC13, B930033A02Rik |
| MMRRC Submission |
039517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R1463 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110205384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 299
(I299N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043961
AA Change: I299N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: I299N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
29 |
416 |
4.3e-33 |
PFAM |
|
AAA
|
506 |
691 |
2.88e-8 |
SMART |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1267 |
N/A |
INTRINSIC |
|
AAA
|
1325 |
1512 |
3.52e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124714
AA Change: I299N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: I299N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
30 |
416 |
9.5e-32 |
PFAM |
|
AAA
|
506 |
691 |
2.88e-8 |
SMART |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1019 |
1041 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1074 |
1096 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1103 |
1125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1136 |
1158 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1165 |
1187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127318
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
97% (97/100) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,803,936 (GRCm39) |
T413A |
probably benign |
Het |
| Actc1 |
G |
A |
2: 113,880,010 (GRCm39) |
S201F |
probably damaging |
Het |
| Adam30 |
G |
A |
3: 98,069,841 (GRCm39) |
C558Y |
probably damaging |
Het |
| Adcy4 |
T |
A |
14: 56,016,396 (GRCm39) |
I352F |
probably damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,216,233 (GRCm39) |
D472V |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,918,583 (GRCm39) |
M117L |
probably benign |
Het |
| AI597479 |
T |
C |
1: 43,152,389 (GRCm39) |
V229A |
probably damaging |
Het |
| Ascc1 |
T |
C |
10: 59,898,338 (GRCm39) |
V267A |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,810 (GRCm39) |
S600G |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,260,584 (GRCm39) |
V32I |
probably benign |
Het |
| Cacna1c |
G |
T |
6: 118,570,955 (GRCm39) |
D2106E |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,263,255 (GRCm39) |
H1440R |
possibly damaging |
Het |
| Catsper2 |
G |
A |
2: 121,236,927 (GRCm39) |
T240M |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,791,120 (GRCm39) |
N307K |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,406 (GRCm39) |
E279G |
probably damaging |
Het |
| Cdx2 |
C |
T |
5: 147,243,470 (GRCm39) |
S108N |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,386,936 (GRCm39) |
N1781K |
probably damaging |
Het |
| Cgref1 |
T |
A |
5: 31,093,338 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
C |
T |
7: 7,299,763 (GRCm39) |
W22* |
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,448,875 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
C |
T |
9: 9,673,801 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
G |
19: 37,116,500 (GRCm39) |
M377T |
probably benign |
Het |
| Cryge |
T |
A |
1: 65,087,997 (GRCm39) |
R135* |
probably null |
Het |
| Ctdsp2 |
C |
A |
10: 126,829,790 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
G |
A |
13: 60,949,089 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
C |
A |
7: 130,918,371 (GRCm39) |
G189C |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,711,366 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
T |
A |
4: 102,944,615 (GRCm39) |
L245F |
possibly damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,056,139 (GRCm39) |
S1587R |
probably damaging |
Het |
| Dock4 |
GCTCAGTGTATC |
GC |
12: 40,866,324 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,743,202 (GRCm39) |
H701R |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,683,261 (GRCm39) |
T646A |
possibly damaging |
Het |
| Esrra |
A |
C |
19: 6,889,823 (GRCm39) |
D160E |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,143,452 (GRCm39) |
T2868A |
probably benign |
Het |
| Galnt7 |
T |
A |
8: 58,105,892 (GRCm39) |
M41L |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,259,984 (GRCm39) |
|
probably benign |
Het |
| Glyat |
A |
G |
19: 12,625,467 (GRCm39) |
N63S |
probably damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,894 (GRCm39) |
M109L |
probably benign |
Het |
| H2-M10.3 |
A |
G |
17: 36,677,612 (GRCm39) |
V222A |
probably damaging |
Het |
| Ifna12 |
T |
G |
4: 88,521,193 (GRCm39) |
D118A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,451,147 (GRCm39) |
M501V |
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,336,128 (GRCm39) |
|
probably benign |
Het |
| Ivns1abp |
A |
G |
1: 151,237,291 (GRCm39) |
N527S |
probably benign |
Het |
| Kif13a |
T |
C |
13: 47,083,088 (GRCm39) |
T4A |
possibly damaging |
Het |
| Kif3b |
T |
C |
2: 153,172,073 (GRCm39) |
*748Q |
probably null |
Het |
| Klf8 |
C |
T |
X: 152,167,677 (GRCm39) |
Q241* |
probably null |
Het |
| Kras |
A |
T |
6: 145,170,787 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,777,423 (GRCm39) |
T23K |
probably benign |
Het |
| Lrrc74b |
T |
A |
16: 17,377,737 (GRCm39) |
H47L |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,199,101 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
G |
A |
8: 126,668,876 (GRCm39) |
G821S |
probably benign |
Het |
| Mettl14 |
A |
G |
3: 123,167,722 (GRCm39) |
|
probably benign |
Het |
| Mettl5 |
T |
C |
2: 69,715,590 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
A |
G |
13: 111,848,289 (GRCm39) |
D301G |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,025,595 (GRCm39) |
|
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,277,588 (GRCm39) |
|
probably null |
Het |
| Msh4 |
A |
G |
3: 153,563,207 (GRCm39) |
L723P |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,817 (GRCm39) |
V1921A |
unknown |
Het |
| Myo1e |
G |
A |
9: 70,246,038 (GRCm39) |
E410K |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,185,710 (GRCm39) |
I951S |
probably damaging |
Het |
| Npc1 |
G |
A |
18: 12,324,887 (GRCm39) |
T1202I |
probably damaging |
Het |
| Or10j3 |
A |
G |
1: 173,030,934 (GRCm39) |
K4E |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,947 (GRCm39) |
R242G |
probably damaging |
Het |
| Or5a3 |
C |
T |
19: 12,400,252 (GRCm39) |
T193I |
probably benign |
Het |
| Pacc1 |
T |
C |
1: 191,060,486 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
C |
T |
2: 121,954,216 (GRCm39) |
V452M |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,709,854 (GRCm39) |
V487A |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,239,440 (GRCm39) |
A963T |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,866,302 (GRCm39) |
V518M |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 102,969,199 (GRCm39) |
F256S |
probably damaging |
Het |
| Proc |
T |
C |
18: 32,266,491 (GRCm39) |
D112G |
possibly damaging |
Het |
| Ptges2 |
T |
A |
2: 32,290,874 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
T |
1: 65,402,436 (GRCm39) |
R312W |
probably damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,073 (GRCm39) |
|
probably benign |
Het |
| Rbbp6 |
C |
T |
7: 122,591,676 (GRCm39) |
H546Y |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,164 (GRCm39) |
E364G |
probably damaging |
Het |
| Rxrb |
G |
A |
17: 34,253,134 (GRCm39) |
C185Y |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,037 (GRCm39) |
N133K |
possibly damaging |
Het |
| Serpina3b |
T |
A |
12: 104,104,969 (GRCm39) |
S382T |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,099 (GRCm39) |
F175S |
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,766 (GRCm39) |
H219Y |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,524 (GRCm39) |
D737E |
possibly damaging |
Het |
| Snx31 |
T |
C |
15: 36,539,444 (GRCm39) |
E144G |
probably null |
Het |
| Sp2 |
A |
G |
11: 96,854,282 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
C |
T |
11: 94,007,663 (GRCm39) |
L1117F |
probably damaging |
Het |
| Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
| Syndig1l |
A |
T |
12: 84,727,137 (GRCm39) |
|
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,024,332 (GRCm39) |
|
probably benign |
Het |
| Tmem169 |
T |
C |
1: 72,339,855 (GRCm39) |
M95T |
probably benign |
Het |
| Tnfrsf17 |
A |
G |
16: 11,133,066 (GRCm39) |
Y48C |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,657,859 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
C |
1: 169,977,952 (GRCm39) |
H366Q |
probably benign |
Het |
| Ulbp1 |
A |
G |
10: 7,396,557 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,647 (GRCm39) |
V1118A |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,600,258 (GRCm39) |
N1493S |
probably benign |
Het |
| Vmn1r129 |
C |
A |
7: 21,094,655 (GRCm39) |
V188F |
probably benign |
Het |
| Vmn1r226 |
A |
T |
17: 20,907,994 (GRCm39) |
L75F |
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,809,046 (GRCm39) |
S137R |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 7,229,372 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abca5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Abca5
|
APN |
11 |
110,200,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00675:Abca5
|
APN |
11 |
110,195,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01512:Abca5
|
APN |
11 |
110,208,649 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01559:Abca5
|
APN |
11 |
110,163,352 (GRCm39) |
missense |
probably benign |
|
|
IGL01584:Abca5
|
APN |
11 |
110,195,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01604:Abca5
|
APN |
11 |
110,168,462 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01828:Abca5
|
APN |
11 |
110,178,521 (GRCm39) |
missense |
probably benign |
|
|
IGL01880:Abca5
|
APN |
11 |
110,184,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02054:Abca5
|
APN |
11 |
110,182,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02074:Abca5
|
APN |
11 |
110,184,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02233:Abca5
|
APN |
11 |
110,165,170 (GRCm39) |
nonsense |
probably null |
|
|
IGL02245:Abca5
|
APN |
11 |
110,188,995 (GRCm39) |
nonsense |
probably null |
|
|
IGL02317:Abca5
|
APN |
11 |
110,218,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02352:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02359:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02390:Abca5
|
APN |
11 |
110,187,377 (GRCm39) |
missense |
probably benign |
|
|
IGL02600:Abca5
|
APN |
11 |
110,200,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02639:Abca5
|
APN |
11 |
110,178,899 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03000:Abca5
|
APN |
11 |
110,208,640 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03074:Abca5
|
APN |
11 |
110,201,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03078:Abca5
|
APN |
11 |
110,167,371 (GRCm39) |
nonsense |
probably null |
|
|
IGL03342:Abca5
|
APN |
11 |
110,178,517 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03368:Abca5
|
APN |
11 |
110,204,348 (GRCm39) |
splice site |
probably benign |
|
|
atles
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Demento
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jones
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
|
smith
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0106:Abca5
|
UTSW |
11 |
110,210,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Abca5
|
UTSW |
11 |
110,167,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Abca5
|
UTSW |
11 |
110,164,137 (GRCm39) |
splice site |
probably benign |
|
|
R0550:Abca5
|
UTSW |
11 |
110,184,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0578:Abca5
|
UTSW |
11 |
110,167,315 (GRCm39) |
nonsense |
probably null |
|
|
R0587:Abca5
|
UTSW |
11 |
110,202,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0610:Abca5
|
UTSW |
11 |
110,192,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0617:Abca5
|
UTSW |
11 |
110,170,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0667:Abca5
|
UTSW |
11 |
110,218,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0844:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1273:Abca5
|
UTSW |
11 |
110,217,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1511:Abca5
|
UTSW |
11 |
110,190,812 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1511:Abca5
|
UTSW |
11 |
110,190,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Abca5
|
UTSW |
11 |
110,184,714 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1759:Abca5
|
UTSW |
11 |
110,184,674 (GRCm39) |
missense |
probably benign |
|
|
R1870:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2006:Abca5
|
UTSW |
11 |
110,204,275 (GRCm39) |
missense |
probably benign |
|
|
R2039:Abca5
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2076:Abca5
|
UTSW |
11 |
110,178,478 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2136:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2154:Abca5
|
UTSW |
11 |
110,183,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2273:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2274:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2275:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2328:Abca5
|
UTSW |
11 |
110,167,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3702:Abca5
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
|
R3768:Abca5
|
UTSW |
11 |
110,204,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3872:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4347:Abca5
|
UTSW |
11 |
110,190,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Abca5
|
UTSW |
11 |
110,202,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:Abca5
|
UTSW |
11 |
110,202,236 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4812:Abca5
|
UTSW |
11 |
110,192,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Abca5
|
UTSW |
11 |
110,170,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Abca5
|
UTSW |
11 |
110,217,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Abca5
|
UTSW |
11 |
110,201,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Abca5
|
UTSW |
11 |
110,170,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5066:Abca5
|
UTSW |
11 |
110,200,176 (GRCm39) |
intron |
probably benign |
|
|
R5230:Abca5
|
UTSW |
11 |
110,210,686 (GRCm39) |
missense |
probably benign |
|
|
R5321:Abca5
|
UTSW |
11 |
110,218,651 (GRCm39) |
missense |
probably benign |
|
|
R5350:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5414:Abca5
|
UTSW |
11 |
110,205,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5451:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5453:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5488:Abca5
|
UTSW |
11 |
110,183,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5636:Abca5
|
UTSW |
11 |
110,192,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5805:Abca5
|
UTSW |
11 |
110,170,216 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5900:Abca5
|
UTSW |
11 |
110,169,982 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6152:Abca5
|
UTSW |
11 |
110,204,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Abca5
|
UTSW |
11 |
110,182,931 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6343:Abca5
|
UTSW |
11 |
110,205,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Abca5
|
UTSW |
11 |
110,220,058 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6493:Abca5
|
UTSW |
11 |
110,184,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6498:Abca5
|
UTSW |
11 |
110,182,928 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6884:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6912:Abca5
|
UTSW |
11 |
110,197,106 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7084:Abca5
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7239:Abca5
|
UTSW |
11 |
110,217,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7490:Abca5
|
UTSW |
11 |
110,168,437 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7527:Abca5
|
UTSW |
11 |
110,218,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7702:Abca5
|
UTSW |
11 |
110,167,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7763:Abca5
|
UTSW |
11 |
110,163,323 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8237:Abca5
|
UTSW |
11 |
110,200,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8910:Abca5
|
UTSW |
11 |
110,189,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9028:Abca5
|
UTSW |
11 |
110,188,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Abca5
|
UTSW |
11 |
110,189,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9151:Abca5
|
UTSW |
11 |
110,188,908 (GRCm39) |
missense |
probably benign |
|
|
R9187:Abca5
|
UTSW |
11 |
110,200,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Abca5
|
UTSW |
11 |
110,220,165 (GRCm39) |
intron |
probably benign |
|
|
R9322:Abca5
|
UTSW |
11 |
110,192,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9391:Abca5
|
UTSW |
11 |
110,178,542 (GRCm39) |
missense |
probably benign |
|
|
R9435:Abca5
|
UTSW |
11 |
110,182,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9557:Abca5
|
UTSW |
11 |
110,197,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Abca5
|
UTSW |
11 |
110,168,248 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9788:Abca5
|
UTSW |
11 |
110,192,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Abca5
|
UTSW |
11 |
110,170,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Abca5
|
UTSW |
11 |
110,170,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGTGCAACCTTTCACAGGAC -3'
(R):5'- TTGGGTGCATGAACACACGCAG -3'
Sequencing Primer
(F):5'- GTGCAACCTTTCACAGGACAAATAG -3'
(R):5'- GCATGAACACACGCAGATAAATTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation