Incidental Mutation 'R2136:Abca5'
ID |
235834 |
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 |
040139-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2136 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110210658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
[ENSMUST00000134721]
|
AlphaFold |
Q8K448 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043961
AA Change: T174A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: T174A
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
AA Change: T174A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000120708 Gene: ENSMUSG00000018800 AA Change: T174A
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134721
AA Change: T174A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118328 Gene: ENSMUSG00000018800 AA Change: T174A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0725 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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 |
A930003A15Rik |
T |
G |
16: 19,702,530 (GRCm39) |
|
noncoding transcript |
Het |
Abcg3 |
G |
A |
5: 105,114,680 (GRCm39) |
S279L |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,981,369 (GRCm39) |
L85P |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,101 (GRCm39) |
K290R |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,780,674 (GRCm39) |
T1909A |
probably benign |
Het |
Asap1 |
T |
C |
15: 63,982,808 (GRCm39) |
D832G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,795,552 (GRCm39) |
L702Q |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,430 (GRCm39) |
V1774A |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,903,248 (GRCm39) |
E48G |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,805,493 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
CA |
1: 74,956,432 (GRCm39) |
|
probably null |
Het |
Cln3 |
A |
C |
7: 126,181,971 (GRCm39) |
S30R |
probably benign |
Het |
Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,265,163 (GRCm39) |
V85E |
probably benign |
Het |
Crocc |
G |
A |
4: 140,760,265 (GRCm39) |
R789W |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,572,397 (GRCm39) |
I212V |
probably benign |
Het |
Cyp2t4 |
C |
A |
7: 26,857,585 (GRCm39) |
F391L |
probably benign |
Het |
Dhx35 |
G |
T |
2: 158,673,781 (GRCm39) |
R404L |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,869,942 (GRCm39) |
L826S |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,524,648 (GRCm39) |
Y1393N |
unknown |
Het |
Fap |
C |
T |
2: 62,354,551 (GRCm39) |
G446D |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 16,288,347 (GRCm39) |
I392T |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
C |
10: 111,896,381 (GRCm39) |
V56A |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,820,517 (GRCm39) |
V7A |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,509,410 (GRCm39) |
A3646V |
probably damaging |
Het |
Ipo9 |
A |
T |
1: 135,322,023 (GRCm39) |
I569N |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,267,763 (GRCm39) |
P151Q |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,128,094 (GRCm39) |
D491G |
possibly damaging |
Het |
Kctd7 |
T |
C |
5: 130,181,207 (GRCm39) |
L210P |
probably damaging |
Het |
Lifr |
C |
A |
15: 7,211,338 (GRCm39) |
D625E |
possibly damaging |
Het |
Lrguk |
T |
C |
6: 34,020,454 (GRCm39) |
V201A |
probably benign |
Het |
Mark1 |
A |
G |
1: 184,651,770 (GRCm39) |
V135A |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,870,722 (GRCm39) |
D70E |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,275,000 (GRCm39) |
Y434H |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,695,540 (GRCm39) |
Q1556K |
probably damaging |
Het |
Nav1 |
G |
A |
1: 135,382,174 (GRCm39) |
T1400I |
probably null |
Het |
Or1j11 |
A |
G |
2: 36,311,950 (GRCm39) |
D180G |
probably damaging |
Het |
Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
Or4b13 |
A |
C |
2: 90,082,597 (GRCm39) |
V245G |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,961 (GRCm39) |
V62A |
probably damaging |
Het |
Or4p7 |
T |
A |
2: 88,221,663 (GRCm39) |
I24N |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,584 (GRCm39) |
K270E |
probably damaging |
Het |
Or5e1 |
G |
A |
7: 108,354,430 (GRCm39) |
M122I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,881,943 (GRCm39) |
Q67L |
probably damaging |
Het |
Pan2 |
T |
G |
10: 128,149,506 (GRCm39) |
V522G |
possibly damaging |
Het |
Pard3 |
T |
G |
8: 128,103,366 (GRCm39) |
|
probably null |
Het |
Pcdhgc5 |
G |
T |
18: 37,953,166 (GRCm39) |
A147S |
possibly damaging |
Het |
Pcsk9 |
T |
C |
4: 106,303,967 (GRCm39) |
I506V |
probably benign |
Het |
Polr3d |
GCCCCC |
GCCCC |
14: 70,680,487 (GRCm39) |
|
probably null |
Het |
Prdm4 |
G |
A |
10: 85,729,215 (GRCm39) |
R731* |
probably null |
Het |
Prdx6b |
T |
A |
2: 80,123,507 (GRCm39) |
D105E |
probably damaging |
Het |
Prss3b |
A |
G |
6: 41,012,396 (GRCm39) |
F6S |
probably benign |
Het |
Rab42 |
A |
G |
4: 132,029,790 (GRCm39) |
L144P |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,171,661 (GRCm39) |
K104M |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,230,320 (GRCm39) |
I1122K |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,881,038 (GRCm39) |
V131A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,525,597 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,898,527 (GRCm39) |
I645N |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,367,028 (GRCm39) |
K624R |
probably benign |
Het |
Sgk2 |
C |
A |
2: 162,841,099 (GRCm39) |
|
probably null |
Het |
Sirt4 |
A |
G |
5: 115,617,760 (GRCm39) |
S299P |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,321,473 (GRCm39) |
S1322P |
possibly damaging |
Het |
Slit2 |
C |
T |
5: 48,461,567 (GRCm39) |
A1521V |
probably benign |
Het |
Socs7 |
T |
G |
11: 97,263,933 (GRCm39) |
V275G |
possibly damaging |
Het |
Spink11 |
G |
A |
18: 44,323,554 (GRCm39) |
P102S |
probably benign |
Het |
Tacc3 |
A |
G |
5: 33,828,748 (GRCm39) |
N534D |
probably damaging |
Het |
Tas2r115 |
T |
C |
6: 132,714,309 (GRCm39) |
Y214C |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,650,454 (GRCm39) |
M875K |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,479,869 (GRCm39) |
L41Q |
possibly damaging |
Het |
Vasn |
T |
A |
16: 4,467,659 (GRCm39) |
C535* |
probably null |
Het |
Vcan |
T |
A |
13: 89,837,856 (GRCm39) |
I2563F |
probably damaging |
Het |
Vmn2r63 |
T |
G |
7: 42,576,297 (GRCm39) |
Q505H |
probably damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,781 (GRCm39) |
Q475H |
probably damaging |
Het |
Zbtb43 |
T |
C |
2: 33,344,532 (GRCm39) |
Y231C |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,266 (GRCm39) |
V931A |
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 |
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'- GCTCAAATCCTTCATAAGACAAGAG -3'
(R):5'- CCTTCCGTCCTGTAGAGAATG -3'
Sequencing Primer
(F):5'- GAACCAAATTCAACGTTAAAGA -3'
(R):5'- CGTCCTGTAGAGAATGCCTGG -3'
|
Posted On |
2014-10-01 |