Incidental Mutation 'R1511:Abca5'
| ID |
168352 |
| 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 |
039558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1511 (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 A
at 110190812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 766
(H766L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: H766L
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: H766L
| 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 |
possibly damaging
Transcript: ENSMUST00000124714
AA Change: H766L
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: H766L
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.7%
|
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
A |
5: 125,592,041 (GRCm39) |
N576K |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,177,896 (GRCm39) |
I191T |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,697,123 (GRCm39) |
E314D |
probably damaging |
Het |
| Agxt |
G |
A |
1: 93,063,490 (GRCm39) |
G131R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,632,758 (GRCm39) |
T326A |
probably benign |
Het |
| Aldoart2 |
T |
A |
12: 55,613,062 (GRCm39) |
I329N |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,896,047 (GRCm39) |
I342V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,369,081 (GRCm39) |
S68P |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AU022252 |
C |
T |
4: 119,085,294 (GRCm39) |
R71Q |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,246,636 (GRCm39) |
L695P |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,792,368 (GRCm39) |
S587T |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,758,028 (GRCm39) |
M421V |
probably benign |
Het |
| Clk2 |
A |
G |
3: 89,076,010 (GRCm39) |
D60G |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,439,128 (GRCm39) |
T6K |
probably damaging |
Het |
| Cluap1 |
T |
A |
16: 3,737,422 (GRCm39) |
D180E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,834 (GRCm39) |
I530V |
probably benign |
Het |
| Cpt1a |
T |
C |
19: 3,415,788 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
T |
G |
1: 194,837,580 (GRCm39) |
K797Q |
possibly damaging |
Het |
| Crybg3 |
C |
A |
16: 59,374,475 (GRCm39) |
V2260L |
probably benign |
Het |
| Csnk1a1 |
T |
A |
18: 61,718,321 (GRCm39) |
|
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,929 (GRCm39) |
D31G |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,535,361 (GRCm39) |
D108Y |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,227,538 (GRCm39) |
V376A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,186,278 (GRCm39) |
V462A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,474,647 (GRCm39) |
K357R |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,768,374 (GRCm39) |
H771L |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,965,717 (GRCm39) |
I370T |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,172 (GRCm39) |
N79K |
possibly damaging |
Het |
| Fam229b |
A |
G |
10: 38,994,915 (GRCm39) |
*81Q |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,037,225 (GRCm39) |
Y3626H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,148,205 (GRCm39) |
F2681Y |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,281,331 (GRCm39) |
|
noncoding transcript |
Het |
| Galm |
C |
A |
17: 80,490,696 (GRCm39) |
N284K |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,316,446 (GRCm39) |
S735T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,553,848 (GRCm39) |
S207T |
probably benign |
Het |
| Il33 |
C |
T |
19: 29,932,615 (GRCm39) |
R159C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,382,148 (GRCm39) |
N106S |
possibly damaging |
Het |
| Kif21b |
G |
T |
1: 136,097,062 (GRCm39) |
|
probably null |
Het |
| Kirrel2 |
A |
G |
7: 30,155,923 (GRCm39) |
C42R |
probably damaging |
Het |
| Letm1 |
A |
C |
5: 33,909,899 (GRCm39) |
C378W |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,791 (GRCm39) |
K160N |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,804 (GRCm39) |
I121T |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,327,534 (GRCm39) |
V79E |
probably damaging |
Het |
| Mmp8 |
T |
G |
9: 7,566,279 (GRCm39) |
D378E |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,977,827 (GRCm39) |
E145G |
probably damaging |
Het |
| Mrps2 |
C |
T |
2: 28,359,676 (GRCm39) |
L178F |
probably damaging |
Het |
| Mzb1 |
A |
G |
18: 35,780,875 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,383,759 (GRCm39) |
D135G |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,830,242 (GRCm39) |
F623L |
possibly damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,112,772 (GRCm39) |
D143V |
probably damaging |
Het |
| Or14a260 |
T |
C |
7: 85,985,553 (GRCm39) |
D17G |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,592 (GRCm39) |
M296V |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,968,748 (GRCm39) |
V245A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,281 (GRCm39) |
S92P |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,749 (GRCm39) |
V150A |
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,332 (GRCm39) |
L63P |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,114 (GRCm39) |
I50V |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,321 (GRCm39) |
D172G |
probably benign |
Het |
| Parp14 |
T |
G |
16: 35,677,594 (GRCm39) |
E791D |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 80,006,829 (GRCm39) |
R578H |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 140,839,714 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,516,249 (GRCm39) |
H626N |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,132,460 (GRCm39) |
V33D |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,743,907 (GRCm39) |
Y176H |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
| Rabac1 |
C |
T |
7: 24,671,555 (GRCm39) |
V122M |
probably damaging |
Het |
| Rasef |
G |
T |
4: 73,653,985 (GRCm39) |
Q561K |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,037,554 (GRCm39) |
S198P |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,456 (GRCm39) |
M272K |
probably damaging |
Het |
| Rexo1 |
T |
G |
10: 80,385,884 (GRCm39) |
K391N |
possibly damaging |
Het |
| Rnf43 |
T |
C |
11: 87,622,173 (GRCm39) |
S384P |
probably benign |
Het |
| Rpsa |
A |
T |
9: 119,960,066 (GRCm39) |
I210F |
possibly damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,247,016 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,157 (GRCm39) |
D1048V |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,577,482 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,387 (GRCm39) |
V19A |
probably damaging |
Het |
| Snx14 |
G |
A |
9: 88,280,417 (GRCm39) |
Q522* |
probably null |
Het |
| Stx1b |
A |
G |
7: 127,414,144 (GRCm39) |
L74S |
probably damaging |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,376 (GRCm39) |
M371K |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,412,174 (GRCm39) |
V166A |
probably benign |
Het |
| Traf5 |
T |
A |
1: 191,731,912 (GRCm39) |
T310S |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,342,448 (GRCm39) |
K619E |
probably benign |
Het |
| Trmt10a |
T |
A |
3: 137,857,945 (GRCm39) |
|
probably null |
Het |
| Txk |
A |
C |
5: 72,865,014 (GRCm39) |
I287R |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,344 (GRCm39) |
D452G |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,190,023 (GRCm39) |
|
probably null |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,489 (GRCm39) |
I339R |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,155 (GRCm39) |
I529T |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,823 (GRCm39) |
D248G |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,771 (GRCm39) |
T149S |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,197 (GRCm39) |
V287I |
possibly damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,915,496 (GRCm39) |
R485* |
probably null |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,775 (GRCm39) |
T152A |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,840,121 (GRCm39) |
F2448L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,841,719 (GRCm39) |
N2583S |
probably benign |
Het |
| Wscd1 |
C |
T |
11: 71,679,501 (GRCm39) |
P458L |
probably damaging |
Het |
| Xylt2 |
T |
A |
11: 94,561,259 (GRCm39) |
D168V |
probably damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,921,013 (GRCm39) |
T306A |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,819,771 (GRCm39) |
D1097E |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,156 (GRCm39) |
C380* |
probably null |
Het |
| Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
probably damaging |
Het |
| Zmynd15 |
T |
A |
11: 70,355,619 (GRCm39) |
V430E |
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 |
110,190,804 (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'- CAAGGCAACGCAGACTTCATATGC -3'
(R):5'- ACTTGAATGGCACTGTAGGCCAC -3'
Sequencing Primer
(F):5'- ACCTGCTTGGTCAATTTCTGCT -3'
(R):5'- tgtgggtgtgtgtatgtgg -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation