Incidental Mutation 'R0267:Abca1'
| ID |
34982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca1
|
| Ensembl Gene |
ENSMUSG00000015243 |
| Gene Name |
ATP-binding cassette, sub-family A member 1 |
| Synonyms |
ABC1 |
| MMRRC Submission |
038493-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0267 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
53030787-53159895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53046105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1721
(F1721S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030010]
|
| AlphaFold |
P41233 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030010
AA Change: F1721S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: F1721S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
395 |
841 |
4.9e-14 |
PFAM |
|
AAA
|
925 |
1122 |
4.2e-10 |
SMART |
|
low complexity region
|
1137 |
1150 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1344 |
1869 |
1.7e-53 |
PFAM |
|
low complexity region
|
1890 |
1899 |
N/A |
INTRINSIC |
|
AAA
|
1938 |
2123 |
3.04e-7 |
SMART |
|
low complexity region
|
2176 |
2187 |
N/A |
INTRINSIC |
|
low complexity region
|
2222 |
2237 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7321 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
| Validation Efficiency |
97% (64/66) |
| MGI Phenotype |
FUNCTION: 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
| Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
| Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
| Cped1 |
T |
A |
6: 22,119,475 (GRCm39) |
F311L |
probably damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
| Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
| Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,710,921 (GRCm39) |
E443G |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
| Exosc10 |
T |
C |
4: 148,647,213 (GRCm39) |
L174P |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
| Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
| Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
| Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
| Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
| Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
| Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
| Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
| Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,333,426 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
| Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
| Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
probably damaging |
Het |
|
| Other mutations in Abca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Abca1
|
APN |
4 |
53,059,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00778:Abca1
|
APN |
4 |
53,086,132 (GRCm39) |
missense |
probably benign |
|
|
IGL01013:Abca1
|
APN |
4 |
53,038,185 (GRCm39) |
nonsense |
probably null |
|
|
IGL01510:Abca1
|
APN |
4 |
53,143,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01608:Abca1
|
APN |
4 |
53,038,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Abca1
|
APN |
4 |
53,090,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02048:Abca1
|
APN |
4 |
53,069,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02249:Abca1
|
APN |
4 |
53,068,739 (GRCm39) |
nonsense |
probably null |
|
|
IGL02569:Abca1
|
APN |
4 |
53,034,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Abca1
|
APN |
4 |
53,034,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6720_abca1_529
|
UTSW |
4 |
53,083,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Abca1
|
UTSW |
4 |
53,059,245 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Abca1
|
UTSW |
4 |
53,059,245 (GRCm39) |
splice site |
probably benign |
|
|
R0050:Abca1
|
UTSW |
4 |
53,069,910 (GRCm39) |
splice site |
probably benign |
|
|
R0107:Abca1
|
UTSW |
4 |
53,080,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Abca1
|
UTSW |
4 |
53,067,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0178:Abca1
|
UTSW |
4 |
53,081,953 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0207:Abca1
|
UTSW |
4 |
53,086,039 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0269:Abca1
|
UTSW |
4 |
53,044,228 (GRCm39) |
missense |
probably benign |
|
|
R0586:Abca1
|
UTSW |
4 |
53,092,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0587:Abca1
|
UTSW |
4 |
53,107,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1403:Abca1
|
UTSW |
4 |
53,059,253 (GRCm39) |
splice site |
probably benign |
|
|
R1404:Abca1
|
UTSW |
4 |
53,059,253 (GRCm39) |
splice site |
probably benign |
|
|
R1405:Abca1
|
UTSW |
4 |
53,059,253 (GRCm39) |
splice site |
probably benign |
|
|
R1558:Abca1
|
UTSW |
4 |
53,092,887 (GRCm39) |
missense |
probably null |
0.00 |
|
R1655:Abca1
|
UTSW |
4 |
53,050,964 (GRCm39) |
missense |
probably benign |
|
|
R1662:Abca1
|
UTSW |
4 |
53,090,251 (GRCm39) |
splice site |
probably null |
|
|
R1769:Abca1
|
UTSW |
4 |
53,074,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Abca1
|
UTSW |
4 |
53,071,977 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1945:Abca1
|
UTSW |
4 |
53,061,509 (GRCm39) |
frame shift |
probably null |
|
|
R1966:Abca1
|
UTSW |
4 |
53,050,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Abca1
|
UTSW |
4 |
53,069,881 (GRCm39) |
missense |
probably benign |
|
|
R2185:Abca1
|
UTSW |
4 |
53,089,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2202:Abca1
|
UTSW |
4 |
53,090,291 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2203:Abca1
|
UTSW |
4 |
53,090,291 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2204:Abca1
|
UTSW |
4 |
53,090,291 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3056:Abca1
|
UTSW |
4 |
53,127,626 (GRCm39) |
missense |
probably benign |
|
|
R3849:Abca1
|
UTSW |
4 |
53,061,481 (GRCm39) |
splice site |
probably benign |
|
|
R3850:Abca1
|
UTSW |
4 |
53,061,481 (GRCm39) |
splice site |
probably benign |
|
|
R3906:Abca1
|
UTSW |
4 |
53,067,151 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3908:Abca1
|
UTSW |
4 |
53,067,151 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4050:Abca1
|
UTSW |
4 |
53,044,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Abca1
|
UTSW |
4 |
53,090,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4225:Abca1
|
UTSW |
4 |
53,085,106 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4577:Abca1
|
UTSW |
4 |
53,062,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4979:Abca1
|
UTSW |
4 |
53,085,092 (GRCm39) |
splice site |
probably null |
|
|
R5022:Abca1
|
UTSW |
4 |
53,041,570 (GRCm39) |
frame shift |
probably null |
|
|
R5168:Abca1
|
UTSW |
4 |
53,086,070 (GRCm39) |
missense |
probably benign |
|
|
R5363:Abca1
|
UTSW |
4 |
53,132,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5439:Abca1
|
UTSW |
4 |
53,042,381 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5604:Abca1
|
UTSW |
4 |
53,067,168 (GRCm39) |
splice site |
probably null |
|
|
R5614:Abca1
|
UTSW |
4 |
53,046,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Abca1
|
UTSW |
4 |
53,079,631 (GRCm39) |
missense |
probably benign |
|
|
R6001:Abca1
|
UTSW |
4 |
53,075,555 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6151:Abca1
|
UTSW |
4 |
53,085,261 (GRCm39) |
missense |
probably benign |
|
|
R6185:Abca1
|
UTSW |
4 |
53,078,089 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6262:Abca1
|
UTSW |
4 |
53,092,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Abca1
|
UTSW |
4 |
53,042,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6472:Abca1
|
UTSW |
4 |
53,085,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6564:Abca1
|
UTSW |
4 |
53,034,031 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6720:Abca1
|
UTSW |
4 |
53,083,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Abca1
|
UTSW |
4 |
53,143,952 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6960:Abca1
|
UTSW |
4 |
53,072,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7065:Abca1
|
UTSW |
4 |
53,074,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7142:Abca1
|
UTSW |
4 |
53,082,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Abca1
|
UTSW |
4 |
53,067,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7520:Abca1
|
UTSW |
4 |
53,078,114 (GRCm39) |
missense |
probably benign |
|
|
R7547:Abca1
|
UTSW |
4 |
53,109,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7793:Abca1
|
UTSW |
4 |
53,042,367 (GRCm39) |
missense |
not run |
|
|
R7863:Abca1
|
UTSW |
4 |
53,107,179 (GRCm39) |
missense |
probably benign |
|
|
R7877:Abca1
|
UTSW |
4 |
53,046,135 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8010:Abca1
|
UTSW |
4 |
53,127,600 (GRCm39) |
missense |
probably benign |
|
|
R8058:Abca1
|
UTSW |
4 |
53,081,954 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8181:Abca1
|
UTSW |
4 |
53,059,303 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8471:Abca1
|
UTSW |
4 |
53,044,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Abca1
|
UTSW |
4 |
53,090,358 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8774-TAIL:Abca1
|
UTSW |
4 |
53,090,358 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8806:Abca1
|
UTSW |
4 |
53,084,520 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8841:Abca1
|
UTSW |
4 |
53,143,925 (GRCm39) |
splice site |
probably benign |
|
|
R9081:Abca1
|
UTSW |
4 |
53,109,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9483:Abca1
|
UTSW |
4 |
53,060,351 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9532:Abca1
|
UTSW |
4 |
53,109,284 (GRCm39) |
missense |
probably benign |
|
|
R9621:Abca1
|
UTSW |
4 |
53,092,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9638:Abca1
|
UTSW |
4 |
53,092,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF005:Abca1
|
UTSW |
4 |
53,049,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF024:Abca1
|
UTSW |
4 |
53,049,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0023:Abca1
|
UTSW |
4 |
53,049,038 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Abca1
|
UTSW |
4 |
53,086,133 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Abca1
|
UTSW |
4 |
53,080,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Abca1
|
UTSW |
4 |
53,079,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGTGAGACACAAACGTAAGC -3'
(R):5'- TTACTGAGCGTGACACCTTGGC -3'
Sequencing Primer
(F):5'- ACGTAAGCATCCACTGGCG -3'
(R):5'- CCAAGGGTAAAATGCTTGTCAAAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation