Incidental Mutation 'R0254:Abca6'
| ID |
34588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca6
|
| Ensembl Gene |
ENSMUSG00000044749 |
| Gene Name |
ATP-binding cassette, sub-family A member 6 |
| Synonyms |
6330565N06Rik |
| MMRRC Submission |
038485-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0254 (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 110127615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 314
(V314A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044003]
|
| AlphaFold |
Q8K441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044003
AA Change: V314A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V314A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150988
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
100% (100/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,902 (GRCm39) |
M252L |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,877,409 (GRCm39) |
E656D |
probably benign |
Het |
| Abhd4 |
T |
C |
14: 54,500,691 (GRCm39) |
I160T |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,773,557 (GRCm39) |
V32A |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,552,406 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,386,352 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,726,722 (GRCm39) |
T136S |
probably benign |
Het |
| Ap1g1 |
G |
T |
8: 110,529,749 (GRCm39) |
M56I |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,268,452 (GRCm39) |
T855I |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,606,077 (GRCm39) |
F308L |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,866,259 (GRCm39) |
M378K |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,937 (GRCm39) |
|
probably benign |
Het |
| Blk |
C |
A |
14: 63,618,253 (GRCm39) |
A218S |
probably benign |
Het |
| C4b |
T |
A |
17: 34,953,750 (GRCm39) |
T953S |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,813,356 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
C |
A |
14: 67,914,627 (GRCm39) |
L877F |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,477,733 (GRCm39) |
V83L |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,350,436 (GRCm39) |
I677F |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,755,395 (GRCm39) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,283,777 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,983,313 (GRCm39) |
V405D |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,958,568 (GRCm39) |
T13A |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,804,694 (GRCm39) |
E1835G |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,480,846 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,429,505 (GRCm39) |
N1332S |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,445,325 (GRCm39) |
T1014A |
possibly damaging |
Het |
| Efnb1 |
T |
C |
X: 98,180,634 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,611 (GRCm39) |
P33Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,333,746 (GRCm39) |
G633D |
probably damaging |
Het |
| Gm10288 |
T |
C |
3: 146,544,675 (GRCm39) |
|
noncoding transcript |
Het |
| Got2 |
T |
C |
8: 96,596,166 (GRCm39) |
N318S |
probably benign |
Het |
| Guk1 |
A |
T |
11: 59,076,854 (GRCm39) |
F76L |
probably damaging |
Het |
| H2-K2 |
A |
T |
17: 34,215,639 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,536 (GRCm39) |
H250Y |
probably damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,871,242 (GRCm39) |
|
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,249,699 (GRCm39) |
V270E |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,635,201 (GRCm39) |
M81K |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,957 (GRCm39) |
T815A |
probably benign |
Het |
| Kit |
G |
A |
5: 75,781,581 (GRCm39) |
V337I |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,245 (GRCm39) |
V193A |
probably benign |
Het |
| Krt73 |
T |
A |
15: 101,708,324 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
T |
A |
4: 98,625,419 (GRCm39) |
L538* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,326,572 (GRCm39) |
L2061P |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,860,998 (GRCm39) |
I900T |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,736,034 (GRCm39) |
N371K |
possibly damaging |
Het |
| Mepce |
A |
C |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mrc2 |
C |
G |
11: 105,238,692 (GRCm39) |
P1249R |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,357,295 (GRCm39) |
I463L |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,412,994 (GRCm39) |
N73K |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,038,771 (GRCm39) |
L404Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,133,402 (GRCm39) |
Y3379H |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,348,733 (GRCm39) |
E120G |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,536 (GRCm39) |
S108P |
probably damaging |
Het |
| Or4f53 |
A |
C |
2: 111,087,466 (GRCm39) |
N2T |
probably benign |
Het |
| Or51a42 |
T |
C |
7: 103,708,728 (GRCm39) |
H27R |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,209,829 (GRCm39) |
Y48* |
probably null |
Het |
| Or51f5 |
C |
A |
7: 102,424,076 (GRCm39) |
S115* |
probably null |
Het |
| Pcnt |
A |
G |
10: 76,228,414 (GRCm39) |
F1584L |
probably benign |
Het |
| Pdgfra |
G |
A |
5: 75,328,596 (GRCm39) |
V243I |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,497 (GRCm39) |
I689V |
possibly damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,251,962 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
C |
A |
6: 127,688,771 (GRCm39) |
V200L |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,188 (GRCm39) |
I2007N |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,113 (GRCm39) |
E230G |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,587 (GRCm39) |
V195I |
probably damaging |
Het |
| Rb1cc1 |
C |
T |
1: 6,333,071 (GRCm39) |
T1330I |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,857,575 (GRCm39) |
T172N |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 112,020,655 (GRCm39) |
V236A |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,104,698 (GRCm39) |
I121V |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,461,058 (GRCm39) |
F11I |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,878,910 (GRCm39) |
|
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,668,316 (GRCm39) |
V117A |
probably benign |
Het |
| Scamp1 |
T |
G |
13: 94,347,088 (GRCm39) |
N192T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,916,245 (GRCm39) |
I1218N |
probably damaging |
Het |
| Serinc1 |
A |
G |
10: 57,399,304 (GRCm39) |
S200P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,518,574 (GRCm39) |
F358Y |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,839,165 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,906,462 (GRCm39) |
M386V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,329 (GRCm39) |
F963L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,718,886 (GRCm39) |
F828I |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,430,230 (GRCm39) |
H42L |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,733,824 (GRCm39) |
Q1333K |
probably benign |
Het |
| Svop |
T |
C |
5: 114,176,600 (GRCm39) |
S349G |
probably benign |
Het |
| Tdrd1 |
G |
A |
19: 56,830,998 (GRCm39) |
S271N |
probably benign |
Het |
| Tec |
G |
A |
5: 72,941,081 (GRCm39) |
P159S |
probably benign |
Het |
| Tec |
T |
C |
5: 72,920,899 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
A |
5: 112,483,521 (GRCm39) |
M645I |
probably benign |
Het |
| Thap12 |
A |
T |
7: 98,364,488 (GRCm39) |
T219S |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,205,988 (GRCm39) |
R329H |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,562,719 (GRCm39) |
Y227H |
probably damaging |
Het |
| Urah |
G |
A |
7: 140,417,602 (GRCm39) |
V114I |
probably benign |
Het |
| Wnt5a |
G |
A |
14: 28,244,811 (GRCm39) |
E353K |
probably damaging |
Het |
| Zfp1004 |
G |
A |
2: 150,033,784 (GRCm39) |
R35K |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,599,952 (GRCm39) |
H601Q |
possibly damaging |
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 |
|
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 |
|
R2127:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCTGAAGATGCTCAGAACCCATTCC -3'
(R):5'- TCGCTGCAACATTTCCATAGAGGC -3'
Sequencing Primer
(F):5'- CATTCCAGAGATGGGGGTAGTTC -3'
(R):5'- CATTTCCATAGAGGCAGATAGGCTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation