Incidental Mutation 'R9028:Abca5'
| ID |
686888 |
| 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 |
068857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110188904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 851
(H851L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043961
AA Change: H851L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: H851L
| 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: H851L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: H851L
| 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 |
|
| Meta Mutation Damage Score |
0.6832 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (74/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,023,977 (GRCm39) |
V1066A |
probably damaging |
Het |
| Actn2 |
T |
C |
13: 12,315,864 (GRCm39) |
I218M |
possibly damaging |
Het |
| Afmid |
G |
A |
11: 117,727,489 (GRCm39) |
E338K |
probably benign |
Het |
| Amer3 |
G |
A |
1: 34,627,758 (GRCm39) |
V666I |
probably benign |
Het |
| Apol7b |
A |
G |
15: 77,307,616 (GRCm39) |
V293A |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,363,130 (GRCm39) |
S657T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,946,508 (GRCm39) |
L438P |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,293,757 (GRCm39) |
E126G |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,739,915 (GRCm39) |
W248* |
probably null |
Het |
| Cfap69 |
A |
T |
5: 5,696,958 (GRCm39) |
S113T |
probably benign |
Het |
| Cgrrf1 |
C |
A |
14: 47,091,200 (GRCm39) |
D241E |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,960,608 (GRCm39) |
T280A |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,398,022 (GRCm39) |
|
probably benign |
Het |
| Cpm |
T |
A |
10: 117,519,414 (GRCm39) |
F441I |
probably benign |
Het |
| Cs |
A |
C |
10: 128,188,952 (GRCm39) |
M154L |
|
Het |
| Dmrta1 |
T |
A |
4: 89,579,914 (GRCm39) |
N291K |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,560,297 (GRCm39) |
T2125A |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,584,012 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,236,819 (GRCm39) |
Y369C |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,822,969 (GRCm39) |
Y225C |
probably damaging |
Het |
| Elapor1 |
G |
A |
3: 108,370,819 (GRCm39) |
T687I |
probably benign |
Het |
| F7 |
T |
C |
8: 13,076,087 (GRCm39) |
L10P |
possibly damaging |
Het |
| Faf1 |
C |
A |
4: 109,748,105 (GRCm39) |
T470K |
possibly damaging |
Het |
| Fam83h |
A |
T |
15: 75,875,738 (GRCm39) |
L533Q |
possibly damaging |
Het |
| Far1 |
T |
A |
7: 113,146,629 (GRCm39) |
V129E |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,306,967 (GRCm39) |
Y219H |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,255,609 (GRCm39) |
S807R |
probably benign |
Het |
| Gaa |
T |
A |
11: 119,161,207 (GRCm39) |
D83E |
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,528,384 (GRCm39) |
S167P |
possibly damaging |
Het |
| H1f11-ps |
T |
C |
19: 47,159,129 (GRCm39) |
K149E |
unknown |
Het |
| Hibch |
T |
C |
1: 52,892,868 (GRCm39) |
L26P |
possibly damaging |
Het |
| Hspa9 |
T |
C |
18: 35,075,084 (GRCm39) |
E415G |
probably damaging |
Het |
| Ipo4 |
T |
C |
14: 55,866,408 (GRCm39) |
Y757C |
probably damaging |
Het |
| Itk |
T |
A |
11: 46,235,710 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
C |
T |
6: 120,416,092 (GRCm39) |
P1671S |
probably benign |
Het |
| Kif13a |
G |
A |
13: 46,951,841 (GRCm39) |
P811S |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,828,341 (GRCm39) |
E857G |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,468,011 (GRCm39) |
S91P |
probably benign |
Het |
| Letm1 |
G |
T |
5: 33,909,847 (GRCm39) |
Q396K |
probably damaging |
Het |
| Map2k6 |
T |
A |
11: 110,388,799 (GRCm39) |
M247K |
|
Het |
| Mga |
A |
G |
2: 119,778,070 (GRCm39) |
I1872V |
probably benign |
Het |
| Mmp15 |
A |
T |
8: 96,096,316 (GRCm39) |
N369I |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,490,099 (GRCm39) |
S1487T |
possibly damaging |
Het |
| Ncam1 |
T |
C |
9: 49,418,736 (GRCm39) |
T855A |
|
Het |
| Ncoa2 |
A |
G |
1: 13,223,079 (GRCm39) |
V1182A |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,992 (GRCm39) |
C254* |
probably null |
Het |
| Nlrp1a |
C |
T |
11: 71,013,819 (GRCm39) |
R477H |
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,716,185 (GRCm39) |
T407S |
possibly damaging |
Het |
| Or1x6 |
C |
T |
11: 50,939,660 (GRCm39) |
T242M |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,747 (GRCm39) |
Y101C |
probably damaging |
Het |
| Or4c15b |
T |
A |
2: 89,112,676 (GRCm39) |
D267V |
probably damaging |
Het |
| Pfkp |
T |
A |
13: 6,655,725 (GRCm39) |
I303F |
probably damaging |
Het |
| Pgc |
T |
C |
17: 48,043,983 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,373 (GRCm39) |
Y257H |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,098 (GRCm39) |
N1613D |
probably damaging |
Het |
| Prb1b |
C |
T |
6: 132,289,618 (GRCm39) |
E69K |
unknown |
Het |
| Rapgef2 |
A |
G |
3: 78,981,651 (GRCm39) |
S1115P |
probably damaging |
Het |
| Rbpj |
A |
G |
5: 53,807,032 (GRCm39) |
E260G |
possibly damaging |
Het |
| Rrm1 |
T |
A |
7: 102,109,605 (GRCm39) |
N476K |
probably damaging |
Het |
| Slc9a2 |
T |
A |
1: 40,765,612 (GRCm39) |
I334N |
probably damaging |
Het |
| Slk |
T |
G |
19: 47,608,512 (GRCm39) |
N488K |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,440,642 (GRCm39) |
I607M |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,473,087 (GRCm39) |
V162M |
probably benign |
Het |
| Svep1 |
T |
G |
4: 58,145,199 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Tcn2 |
C |
T |
11: 3,872,111 (GRCm39) |
V339I |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,242,650 (GRCm39) |
H78R |
probably benign |
Het |
| Trav14-3 |
C |
A |
14: 54,000,887 (GRCm39) |
Q33K |
unknown |
Het |
| Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
| Uhrf2 |
G |
A |
19: 30,066,744 (GRCm39) |
|
probably null |
Het |
| Vmn1r224 |
T |
G |
17: 20,640,112 (GRCm39) |
S230A |
possibly damaging |
Het |
| Wee2 |
A |
T |
6: 40,421,189 (GRCm39) |
H93L |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,796,934 (GRCm39) |
E279G |
probably damaging |
Het |
| Zfp623 |
T |
A |
15: 75,819,349 (GRCm39) |
F102I |
probably damaging |
Het |
| Zfpm2 |
A |
C |
15: 40,966,758 (GRCm39) |
E1081A |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,506,116 (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 |
|
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 |
|
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 |
|
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'- TTAGACAGACAGACAGCCGG -3'
(R):5'- CCACTTGCAGACATGTGCTG -3'
Sequencing Primer
(F):5'- CAGACAGCCGGATGATAAGAATG -3'
(R):5'- CATGTGCTGTCATGTTGATGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation