Incidental Mutation 'R7490:Abca5'
ID |
580694 |
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 |
045564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R7490 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110168437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1424
(E1424G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
|
AlphaFold |
Q8K448 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: E1424G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: E1424G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,202,389 (GRCm39) |
D132G |
possibly damaging |
Het |
Adamts4 |
C |
T |
1: 171,084,169 (GRCm39) |
Q549* |
probably null |
Het |
Adcy4 |
A |
G |
14: 56,007,890 (GRCm39) |
I893T |
possibly damaging |
Het |
Ago1 |
A |
T |
4: 126,333,298 (GRCm39) |
*858R |
probably null |
Het |
Ank2 |
T |
A |
3: 126,752,538 (GRCm39) |
I393L |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,687,459 (GRCm39) |
T987A |
probably benign |
Het |
Ap2a1 |
G |
T |
7: 44,552,213 (GRCm39) |
N790K |
probably benign |
Het |
Aqr |
A |
G |
2: 113,989,349 (GRCm39) |
|
probably null |
Het |
Arel1 |
G |
T |
12: 84,988,685 (GRCm39) |
F21L |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,686,895 (GRCm39) |
D743G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,272 (GRCm39) |
F354I |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,359,818 (GRCm39) |
H259R |
unknown |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TGGTT |
TGGTTCTGTGGTCACGGGTT |
3: 95,795,498 (GRCm39) |
|
probably benign |
Het |
BC028528 |
GTCACTGGTTCTGTG |
GTCACTGGTTCTGTGTTCACTGGTTCTGTG |
3: 95,795,478 (GRCm39) |
|
probably benign |
Het |
Bckdk |
T |
A |
7: 127,504,145 (GRCm39) |
S15T |
unknown |
Het |
C4b |
G |
T |
17: 34,950,054 (GRCm39) |
Y1405* |
probably null |
Het |
Camk4 |
G |
A |
18: 33,072,598 (GRCm39) |
|
probably null |
Het |
Car11 |
T |
A |
7: 45,349,742 (GRCm39) |
W16R |
probably benign |
Het |
Ccdc80 |
A |
C |
16: 44,916,763 (GRCm39) |
E506D |
probably damaging |
Het |
Chmp6 |
C |
T |
11: 119,806,269 (GRCm39) |
Q32* |
probably null |
Het |
Colq |
G |
A |
14: 31,267,043 (GRCm39) |
P166S |
possibly damaging |
Het |
Ctxn3 |
T |
C |
18: 57,610,357 (GRCm39) |
M58T |
probably damaging |
Het |
Cxcl3 |
A |
T |
5: 90,934,516 (GRCm39) |
I93L |
unknown |
Het |
Dnaaf2 |
T |
C |
12: 69,244,380 (GRCm39) |
Y227C |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,204 (GRCm39) |
G792D |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,584,993 (GRCm39) |
|
probably null |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Fbxl13 |
T |
A |
5: 21,728,058 (GRCm39) |
R550* |
probably null |
Het |
Gm4302 |
A |
T |
10: 100,177,445 (GRCm39) |
Q243L |
unknown |
Het |
Gm7168 |
A |
T |
17: 14,169,275 (GRCm39) |
Y214F |
probably benign |
Het |
Gtf3c1 |
C |
T |
7: 125,246,663 (GRCm39) |
D1549N |
probably damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,153 (GRCm39) |
D320E |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,126 (GRCm39) |
V1122D |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,600,987 (GRCm39) |
|
probably null |
Het |
Irs1 |
T |
A |
1: 82,264,985 (GRCm39) |
Q1077L |
probably damaging |
Het |
Ivd |
A |
T |
2: 118,707,373 (GRCm39) |
M296L |
possibly damaging |
Het |
Katnal1 |
T |
C |
5: 148,828,492 (GRCm39) |
D318G |
probably null |
Het |
L3mbtl3 |
C |
T |
10: 26,215,129 (GRCm39) |
V194I |
unknown |
Het |
Malt1 |
C |
A |
18: 65,581,282 (GRCm39) |
Q237K |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,311,187 (GRCm39) |
A221V |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,524 (GRCm39) |
I361M |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,308,682 (GRCm39) |
R493C |
probably damaging |
Het |
Oga |
G |
A |
19: 45,755,886 (GRCm39) |
R586* |
probably null |
Het |
Or10g9b |
T |
A |
9: 39,917,720 (GRCm39) |
H175L |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,739 (GRCm39) |
I256T |
probably damaging |
Het |
Or4c107 |
A |
C |
2: 88,789,392 (GRCm39) |
Y194S |
probably benign |
Het |
Or51g2 |
G |
A |
7: 102,623,017 (GRCm39) |
P61S |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,671,307 (GRCm39) |
V276E |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,229 (GRCm39) |
Y120* |
probably null |
Het |
Orai3 |
C |
T |
7: 127,372,799 (GRCm39) |
A100V |
possibly damaging |
Het |
Oxsm |
T |
A |
14: 16,241,066 (GRCm38) |
M328L |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,144,309 (GRCm39) |
V186A |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,866,265 (GRCm39) |
D980V |
|
Het |
Ppp1r16b |
T |
C |
2: 158,603,388 (GRCm39) |
Y438H |
probably damaging |
Het |
Ppp4c |
A |
T |
7: 126,386,504 (GRCm39) |
H164Q |
probably damaging |
Het |
Prl8a2 |
C |
A |
13: 27,536,753 (GRCm39) |
T125K |
possibly damaging |
Het |
Rasa2 |
T |
C |
9: 96,448,175 (GRCm39) |
N494S |
possibly damaging |
Het |
Rpl18a |
T |
C |
8: 71,348,150 (GRCm39) |
D147G |
probably benign |
Het |
Scg3 |
T |
C |
9: 75,576,559 (GRCm39) |
D272G |
possibly damaging |
Het |
Serpinb6c |
T |
A |
13: 34,077,818 (GRCm39) |
D184V |
probably benign |
Het |
Simc1 |
T |
G |
13: 54,672,162 (GRCm39) |
L170R |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,797,995 (GRCm39) |
E1463G |
possibly damaging |
Het |
Stk31 |
T |
A |
6: 49,416,166 (GRCm39) |
|
probably null |
Het |
Tas1r3 |
A |
G |
4: 155,946,480 (GRCm39) |
I375T |
probably damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,401,494 (GRCm39) |
D405G |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,861,557 (GRCm39) |
P391S |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,695,083 (GRCm39) |
S125G |
probably benign |
Het |
Trim16 |
C |
A |
11: 62,724,949 (GRCm39) |
H246N |
probably damaging |
Het |
Tti1 |
T |
A |
2: 157,837,392 (GRCm39) |
N896I |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,451,286 (GRCm39) |
N395S |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,203,589 (GRCm39) |
I1014V |
probably benign |
Het |
Vmn1r30 |
T |
A |
6: 58,412,214 (GRCm39) |
Q206L |
possibly damaging |
Het |
Washc5 |
T |
A |
15: 59,209,053 (GRCm39) |
N1057I |
probably benign |
Het |
Xpo4 |
GGTATTAGCGGAGT |
GGT |
14: 57,840,078 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
T |
8: 122,331,756 (GRCm39) |
S536T |
unknown |
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 |
R1463:Abca5
|
UTSW |
11 |
110,205,384 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACTCACCACATGTGCTGCTTG -3'
(R):5'- GTCGGTAAATTGCCTTTGCTTC -3'
Sequencing Primer
(F):5'- ATGCCTGTGGACGGCTCATC -3'
(R):5'- AATGCAGATCCAGGTACA -3'
|
Posted On |
2019-10-17 |