Incidental Mutation 'R2127:Abca6'
| ID |
227651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca6
|
| Ensembl Gene |
ENSMUSG00000044749 |
| Gene Name |
ATP-binding cassette, sub-family A member 6 |
| Synonyms |
6330565N06Rik |
| MMRRC Submission |
040130-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110067646-110142602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110110475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 558
(I558T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044003]
|
| AlphaFold |
Q8K441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044003
AA Change: I558T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: I558T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
416 |
1.4e-42 |
PFAM |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
AAA
|
506 |
691 |
1.13e-6 |
SMART |
|
transmembrane domain
|
854 |
876 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
990 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1005 |
1027 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1041 |
1176 |
4e-21 |
BLAST |
|
transmembrane domain
|
1191 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
AAA
|
1312 |
1505 |
2.43e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (93/95) |
| 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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,752 (GRCm39) |
S300T |
possibly damaging |
Het |
| A2ml1 |
A |
C |
6: 128,535,400 (GRCm39) |
V770G |
probably damaging |
Het |
| Abhd17c |
C |
A |
7: 83,759,870 (GRCm39) |
G295W |
probably damaging |
Het |
| Actn3 |
G |
A |
19: 4,921,703 (GRCm39) |
A159V |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Agbl1 |
G |
T |
7: 76,069,628 (GRCm39) |
V373F |
possibly damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,279 (GRCm39) |
E485D |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,377,282 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,206,622 (GRCm39) |
D15G |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,737,611 (GRCm39) |
L921P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,386,038 (GRCm39) |
N88S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,756 (GRCm39) |
C77* |
probably null |
Het |
| Caskin1 |
T |
C |
17: 24,715,970 (GRCm39) |
|
probably null |
Het |
| Catsper4 |
T |
C |
4: 133,941,117 (GRCm39) |
D254G |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,465 (GRCm39) |
D958G |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,377,100 (GRCm39) |
K787Q |
probably benign |
Het |
| Ccdc191 |
C |
T |
16: 43,728,998 (GRCm39) |
T244I |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,179,699 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Cdc37 |
T |
C |
9: 21,061,143 (GRCm39) |
Y4C |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,945,541 (GRCm39) |
N1018K |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,392 (GRCm39) |
D3157G |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,580,477 (GRCm39) |
V492M |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,011 (GRCm39) |
I2486N |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,342,928 (GRCm39) |
T1424I |
possibly damaging |
Het |
| Dsc3 |
C |
T |
18: 20,101,411 (GRCm39) |
A661T |
probably benign |
Het |
| F930015N05Rik |
A |
G |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fbxo34 |
C |
A |
14: 47,767,563 (GRCm39) |
R308S |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
A |
T |
11: 99,663,327 (GRCm39) |
C118S |
unknown |
Het |
| Gm9742 |
A |
T |
13: 8,085,011 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
A |
2: 180,900,842 (GRCm39) |
A185V |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,618 (GRCm39) |
V157A |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,937,932 (GRCm39) |
A247T |
probably damaging |
Het |
| Grin2b |
A |
C |
6: 135,755,698 (GRCm39) |
S539A |
probably benign |
Het |
| Hmbs |
T |
C |
9: 44,252,004 (GRCm39) |
T92A |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,406,000 (GRCm39) |
M173V |
probably benign |
Het |
| Irx4 |
T |
A |
13: 73,413,595 (GRCm39) |
S22T |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,511,881 (GRCm39) |
A623V |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,139 (GRCm39) |
S361L |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,847 (GRCm39) |
Y506D |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,064,007 (GRCm39) |
S2788P |
possibly damaging |
Het |
| Mfsd2b |
T |
A |
12: 4,917,659 (GRCm39) |
Y129F |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,195,250 (GRCm39) |
S155P |
probably benign |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,688,932 (GRCm39) |
T156A |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,824,280 (GRCm39) |
T799I |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,885,442 (GRCm39) |
V167M |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,610,380 (GRCm39) |
R354L |
possibly damaging |
Het |
| Olfml2a |
T |
C |
2: 38,831,699 (GRCm39) |
C93R |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,685 (GRCm39) |
I174V |
probably benign |
Het |
| Or1e25 |
C |
G |
11: 73,493,631 (GRCm39) |
S75C |
possibly damaging |
Het |
| Or5l14 |
A |
T |
2: 87,793,176 (GRCm39) |
V20D |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,215,494 (GRCm39) |
L1134M |
probably damaging |
Het |
| Plscr4 |
T |
G |
9: 92,370,683 (GRCm39) |
F217V |
possibly damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,354,840 (GRCm39) |
Y667N |
probably benign |
Het |
| Polg |
A |
G |
7: 79,114,676 (GRCm39) |
L95P |
probably damaging |
Het |
| Psg20 |
T |
G |
7: 18,416,643 (GRCm39) |
I158L |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,145 (GRCm39) |
S437G |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,981,032 (GRCm39) |
M305V |
possibly damaging |
Het |
| Rinl |
A |
G |
7: 28,496,168 (GRCm39) |
E383G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,290 (GRCm39) |
M888V |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,776 (GRCm39) |
I22K |
possibly damaging |
Het |
| Rtca |
C |
A |
3: 116,291,323 (GRCm39) |
R219L |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,727,081 (GRCm39) |
P2427S |
probably damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc39a11 |
A |
G |
11: 113,260,629 (GRCm39) |
S176P |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,168 (GRCm39) |
|
noncoding transcript |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Sult2a4 |
G |
T |
7: 13,649,185 (GRCm39) |
P207Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,282 (GRCm39) |
T117A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,760,600 (GRCm39) |
V208A |
probably damaging |
Het |
| Tmbim4 |
T |
A |
10: 120,060,658 (GRCm39) |
I215N |
probably damaging |
Het |
| Tmem202 |
T |
A |
9: 59,427,483 (GRCm39) |
I122F |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,234 (GRCm39) |
S4P |
unknown |
Het |
| Tpcn2 |
A |
G |
7: 144,827,712 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,345,404 (GRCm39) |
F10I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Usp8 |
T |
G |
2: 126,579,495 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,533 (GRCm39) |
Y81F |
probably benign |
Het |
| Vps36 |
G |
T |
8: 22,708,305 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,236,565 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt3 |
A |
G |
11: 103,703,474 (GRCm39) |
H319R |
possibly damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,391 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,475,519 (GRCm39) |
E545G |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,038,472 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,489,917 (GRCm39) |
V1228A |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,061,876 (GRCm39) |
D248G |
probably benign |
Het |
|
| Other mutations in Abca6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Abca6
|
APN |
11 |
110,075,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00569:Abca6
|
APN |
11 |
110,077,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00737:Abca6
|
APN |
11 |
110,087,823 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Abca6
|
APN |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
|
|
IGL01087:Abca6
|
APN |
11 |
110,082,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01511:Abca6
|
APN |
11 |
110,135,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01516:Abca6
|
APN |
11 |
110,109,043 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01621:Abca6
|
APN |
11 |
110,075,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01749:Abca6
|
APN |
11 |
110,135,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Abca6
|
APN |
11 |
110,079,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02010:Abca6
|
APN |
11 |
110,110,442 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02121:Abca6
|
APN |
11 |
110,073,750 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02423:Abca6
|
APN |
11 |
110,109,832 (GRCm39) |
splice site |
probably benign |
|
|
IGL02428:Abca6
|
APN |
11 |
110,069,618 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02491:Abca6
|
APN |
11 |
110,067,794 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02541:Abca6
|
APN |
11 |
110,103,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Abca6
|
APN |
11 |
110,079,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02836:Abca6
|
APN |
11 |
110,139,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Abca6
|
APN |
11 |
110,071,439 (GRCm39) |
missense |
probably benign |
|
|
IGL03094:Abca6
|
APN |
11 |
110,074,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03109:Abca6
|
APN |
11 |
110,071,173 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0068:Abca6
|
UTSW |
11 |
110,073,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Abca6
|
UTSW |
11 |
110,079,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0254:Abca6
|
UTSW |
11 |
110,127,615 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0598:Abca6
|
UTSW |
11 |
110,087,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0992:Abca6
|
UTSW |
11 |
110,102,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1642:Abca6
|
UTSW |
11 |
110,109,107 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1673:Abca6
|
UTSW |
11 |
110,103,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1792:Abca6
|
UTSW |
11 |
110,074,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1813:Abca6
|
UTSW |
11 |
110,124,671 (GRCm39) |
splice site |
probably benign |
|
|
R1817:Abca6
|
UTSW |
11 |
110,110,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1842:Abca6
|
UTSW |
11 |
110,087,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1898:Abca6
|
UTSW |
11 |
110,099,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1915:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1934:Abca6
|
UTSW |
11 |
110,100,909 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1964:Abca6
|
UTSW |
11 |
110,075,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1967:Abca6
|
UTSW |
11 |
110,077,974 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2128:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2164:Abca6
|
UTSW |
11 |
110,101,019 (GRCm39) |
frame shift |
probably null |
|
|
R2895:Abca6
|
UTSW |
11 |
110,093,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3110:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R3111:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R3112:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R4094:Abca6
|
UTSW |
11 |
110,071,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Abca6
|
UTSW |
11 |
110,132,414 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4474:Abca6
|
UTSW |
11 |
110,124,598 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4572:Abca6
|
UTSW |
11 |
110,107,374 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4629:Abca6
|
UTSW |
11 |
110,121,375 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4793:Abca6
|
UTSW |
11 |
110,082,544 (GRCm39) |
missense |
probably benign |
|
|
R4852:Abca6
|
UTSW |
11 |
110,135,029 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4867:Abca6
|
UTSW |
11 |
110,093,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4879:Abca6
|
UTSW |
11 |
110,110,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4918:Abca6
|
UTSW |
11 |
110,071,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5062:Abca6
|
UTSW |
11 |
110,067,892 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5083:Abca6
|
UTSW |
11 |
110,109,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Abca6
|
UTSW |
11 |
110,082,546 (GRCm39) |
missense |
probably benign |
|
|
R5393:Abca6
|
UTSW |
11 |
110,135,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5484:Abca6
|
UTSW |
11 |
110,074,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Abca6
|
UTSW |
11 |
110,099,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5503:Abca6
|
UTSW |
11 |
110,109,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Abca6
|
UTSW |
11 |
110,141,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5680:Abca6
|
UTSW |
11 |
110,127,471 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5761:Abca6
|
UTSW |
11 |
110,100,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Abca6
|
UTSW |
11 |
110,075,496 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5818:Abca6
|
UTSW |
11 |
110,110,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Abca6
|
UTSW |
11 |
110,099,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6455:Abca6
|
UTSW |
11 |
110,132,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Abca6
|
UTSW |
11 |
110,107,431 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6857:Abca6
|
UTSW |
11 |
110,110,514 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6914:Abca6
|
UTSW |
11 |
110,081,064 (GRCm39) |
missense |
probably benign |
|
|
R6931:Abca6
|
UTSW |
11 |
110,135,154 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7222:Abca6
|
UTSW |
11 |
110,082,519 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7242:Abca6
|
UTSW |
11 |
110,132,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7297:Abca6
|
UTSW |
11 |
110,073,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7387:Abca6
|
UTSW |
11 |
110,093,246 (GRCm39) |
missense |
probably benign |
|
|
R7420:Abca6
|
UTSW |
11 |
110,141,303 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7494:Abca6
|
UTSW |
11 |
110,099,571 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7603:Abca6
|
UTSW |
11 |
110,071,084 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7637:Abca6
|
UTSW |
11 |
110,109,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7674:Abca6
|
UTSW |
11 |
110,110,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Abca6
|
UTSW |
11 |
110,074,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Abca6
|
UTSW |
11 |
110,078,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7842:Abca6
|
UTSW |
11 |
110,087,523 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7855:Abca6
|
UTSW |
11 |
110,082,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8119:Abca6
|
UTSW |
11 |
110,087,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8139:Abca6
|
UTSW |
11 |
110,074,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Abca6
|
UTSW |
11 |
110,135,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8179:Abca6
|
UTSW |
11 |
110,136,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Abca6
|
UTSW |
11 |
110,102,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8241:Abca6
|
UTSW |
11 |
110,079,456 (GRCm39) |
missense |
probably null |
1.00 |
|
R8404:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8429:Abca6
|
UTSW |
11 |
110,093,208 (GRCm39) |
missense |
probably benign |
|
|
R8502:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8816:Abca6
|
UTSW |
11 |
110,127,513 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8964:Abca6
|
UTSW |
11 |
110,139,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Abca6
|
UTSW |
11 |
110,107,481 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9233:Abca6
|
UTSW |
11 |
110,082,496 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9407:Abca6
|
UTSW |
11 |
110,093,210 (GRCm39) |
nonsense |
probably null |
|
|
R9412:Abca6
|
UTSW |
11 |
110,103,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9453:Abca6
|
UTSW |
11 |
110,138,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9533:Abca6
|
UTSW |
11 |
110,102,582 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9546:Abca6
|
UTSW |
11 |
110,135,042 (GRCm39) |
nonsense |
probably null |
|
|
R9650:Abca6
|
UTSW |
11 |
110,071,446 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9702:Abca6
|
UTSW |
11 |
110,107,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Abca6
|
UTSW |
11 |
110,102,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Abca6
|
UTSW |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGTCATGATTGAACATGG -3'
(R):5'- ACGTGCTACACAGTATCTACAC -3'
Sequencing Primer
(F):5'- CATGATTGAACATGGTTAATGATGGG -3'
(R):5'- TCCTTGCTAACCTTGAACTA -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation