Incidental Mutation 'R9187:Abca5'
| ID |
697464 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110200961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043961
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
| 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 benign
Transcript: ENSMUST00000124714
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (70/72) |
| 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 |
|---|
| Abcb1a |
T |
A |
5: 8,765,016 (GRCm39) |
C669S |
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,255,913 (GRCm39) |
L524P |
probably damaging |
Het |
| Akap5 |
A |
T |
12: 76,376,745 (GRCm39) |
K726* |
probably null |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,441 (GRCm39) |
E778G |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Apon |
A |
G |
10: 128,090,832 (GRCm39) |
N170S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,217,764 (GRCm39) |
Y274C |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,656,856 (GRCm39) |
N425K |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,820,028 (GRCm39) |
C1487R |
probably damaging |
Het |
| Cd4 |
A |
C |
6: 124,844,651 (GRCm39) |
V378G |
probably damaging |
Het |
| Cenpa |
C |
A |
5: 30,824,380 (GRCm39) |
P3Q |
unknown |
Het |
| Cfap44 |
T |
C |
16: 44,225,144 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,956,517 (GRCm39) |
M1021L |
probably benign |
Het |
| Ddx39a |
G |
T |
8: 84,449,113 (GRCm39) |
M300I |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,832,601 (GRCm39) |
R819G |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,405,786 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,895,972 (GRCm39) |
W2468R |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,706 (GRCm39) |
K177I |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,101,184 (GRCm39) |
I249V |
probably damaging |
Het |
| Fam171b |
T |
C |
2: 83,710,365 (GRCm39) |
V679A |
probably damaging |
Het |
| Gabbr2 |
G |
A |
4: 46,674,533 (GRCm39) |
T818I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,752,177 (GRCm39) |
S2098P |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,302,991 (GRCm39) |
I609T |
probably damaging |
Het |
| Gm5916 |
T |
G |
9: 36,032,020 (GRCm39) |
H88P |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,786,618 (GRCm39) |
S586P |
probably benign |
Het |
| Gzmg |
T |
A |
14: 56,394,714 (GRCm39) |
T185S |
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,276,936 (GRCm39) |
D381V |
probably damaging |
Het |
| Hnrnpul2 |
C |
A |
19: 8,808,319 (GRCm39) |
N681K |
probably benign |
Het |
| Hpdl |
C |
A |
4: 116,678,372 (GRCm39) |
G30C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Krt82 |
C |
A |
15: 101,450,260 (GRCm39) |
V479L |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,924,124 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,097,434 (GRCm39) |
E1537* |
probably null |
Het |
| Mab21l3 |
G |
A |
3: 101,730,594 (GRCm39) |
T215M |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,923,073 (GRCm39) |
V1215F |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,902,797 (GRCm39) |
C89* |
probably null |
Het |
| Mitf |
T |
A |
6: 97,994,835 (GRCm39) |
V427D |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,589,102 (GRCm39) |
V753A |
|
Het |
| Myo16 |
G |
A |
8: 10,492,233 (GRCm39) |
R725H |
unknown |
Het |
| Ncapg2 |
T |
A |
12: 116,402,287 (GRCm39) |
D706E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,824,268 (GRCm39) |
D803G |
probably benign |
Het |
| Neb |
A |
T |
2: 52,096,115 (GRCm39) |
V5065D |
probably damaging |
Het |
| Npm3 |
G |
A |
19: 45,737,941 (GRCm39) |
R19* |
probably null |
Het |
| Ntrk3 |
A |
C |
7: 77,896,966 (GRCm39) |
N690K |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,389,166 (GRCm39) |
I127V |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,495,950 (GRCm39) |
I39T |
probably benign |
Het |
| Or8d4 |
C |
A |
9: 40,038,886 (GRCm39) |
V124L |
possibly damaging |
Het |
| P3h2 |
G |
A |
16: 25,924,186 (GRCm39) |
A83V |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,415,910 (GRCm39) |
S362P |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,025,268 (GRCm39) |
H34Y |
probably benign |
Het |
| Pmp22 |
T |
C |
11: 63,025,317 (GRCm39) |
V50A |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,255,006 (GRCm39) |
D283G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,831,755 (GRCm39) |
V254A |
probably benign |
Het |
| Prss55 |
T |
A |
14: 64,314,531 (GRCm39) |
Q213L |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,669,613 (GRCm39) |
E258K |
possibly damaging |
Het |
| Ripor2 |
T |
C |
13: 24,897,632 (GRCm39) |
F777L |
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,711,362 (GRCm39) |
R173C |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,040,011 (GRCm39) |
M735R |
probably benign |
Het |
| Snrpd2 |
T |
A |
7: 18,886,505 (GRCm39) |
I96N |
probably damaging |
Het |
| Spryd3 |
T |
G |
15: 102,039,110 (GRCm39) |
D121A |
probably damaging |
Het |
| Srsf3-ps |
A |
G |
11: 98,516,187 (GRCm39) |
V62A |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,472,223 (GRCm39) |
C149R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,807,105 (GRCm39) |
M144K |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,779,485 (GRCm39) |
I66N |
probably damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,457 (GRCm39) |
T81A |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,249,902 (GRCm39) |
Y284C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,755 (GRCm39) |
T25713A |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,554 (GRCm39) |
W311R |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,438 (GRCm39) |
T755S |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,481 (GRCm39) |
C828R |
probably damaging |
Het |
| Wwox |
T |
C |
8: 115,438,978 (GRCm39) |
F348S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,637 (GRCm39) |
H630L |
probably damaging |
Het |
| Zfp764 |
G |
T |
7: 127,004,608 (GRCm39) |
H174Q |
probably damaging |
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 |
|
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 |
|
|
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'- TGAAGTGAAGCACTGTTTCTAGCA -3'
(R):5'- AATTTGGCTTGAGGAGGTCA -3'
Sequencing Primer
(F):5'- GTGAAGCACTGTTTCTAGCAATTTAC -3'
(R):5'- AATTTGGCTTGAGGAGGTCATCTTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation