Incidental Mutation 'IGL02186:Abca3'
ID |
283616 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abca3
|
Ensembl Gene |
ENSMUSG00000024130 |
Gene Name |
ATP-binding cassette, sub-family A (ABC1), member 3 |
Synonyms |
ABC-C, 1810036E22Rik, Abc3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02186
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24351950-24410201 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24377740 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 389
(Y389C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039013]
[ENSMUST00000079594]
[ENSMUST00000117337]
|
AlphaFold |
Q8R420 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039013
AA Change: Y389C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045285 Gene: ENSMUSG00000024130 AA Change: Y389C
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
21 |
469 |
2.1e-29 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
923 |
1323 |
1.8e-35 |
PFAM |
AAA
|
1408 |
1592 |
1.64e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079594
AA Change: Y389C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078544 Gene: ENSMUSG00000024130 AA Change: Y389C
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
22 |
469 |
2.6e-28 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
923 |
1323 |
5.5e-39 |
PFAM |
AAA
|
1408 |
1592 |
1.64e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117337
AA Change: Y389C
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113538 Gene: ENSMUSG00000024130 AA Change: Y389C
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
21 |
469 |
1.3e-29 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
761 |
1068 |
8.8e-29 |
PFAM |
AAA
|
1153 |
1337 |
1.64e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136295
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149233
|
Coding Region Coverage |
|
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, 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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 65,988,468 (GRCm38) |
F100S |
unknown |
Het |
Acrbp |
G |
T |
6: 125,054,810 (GRCm38) |
|
probably null |
Het |
Adam21 |
G |
A |
12: 81,559,209 (GRCm38) |
T593I |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,425,960 (GRCm38) |
M161K |
probably benign |
Het |
Agrp |
A |
T |
8: 105,567,189 (GRCm38) |
N48K |
probably benign |
Het |
Asprv1 |
A |
T |
6: 86,628,918 (GRCm38) |
M249L |
probably damaging |
Het |
Begain |
A |
G |
12: 109,033,352 (GRCm38) |
Y703H |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,495,989 (GRCm38) |
|
probably benign |
Het |
Cct8l1 |
T |
G |
5: 25,516,838 (GRCm38) |
S184A |
probably benign |
Het |
Cdk13 |
C |
T |
13: 17,772,527 (GRCm38) |
V549I |
probably benign |
Het |
Cdyl2 |
C |
T |
8: 116,579,286 (GRCm38) |
R412Q |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,603,525 (GRCm38) |
S205P |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,704,985 (GRCm38) |
A1263V |
possibly damaging |
Het |
Cltc |
C |
A |
11: 86,704,986 (GRCm38) |
A1263S |
possibly damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,480,793 (GRCm38) |
F62L |
probably damaging |
Het |
Dlec1 |
T |
A |
9: 119,143,627 (GRCm38) |
C1473S |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 131,093,256 (GRCm38) |
|
probably benign |
Het |
Dnase1 |
G |
A |
16: 4,039,032 (GRCm38) |
V176I |
probably benign |
Het |
Dusp1 |
G |
T |
17: 26,507,058 (GRCm38) |
Y220* |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,791,983 (GRCm38) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,565,298 (GRCm38) |
L395P |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,638,534 (GRCm38) |
K533R |
probably damaging |
Het |
Gcm2 |
T |
A |
13: 41,104,649 (GRCm38) |
T168S |
possibly damaging |
Het |
Gm9924 |
C |
A |
5: 31,095,147 (GRCm38) |
|
probably benign |
Het |
Ifrd1 |
A |
G |
12: 40,214,093 (GRCm38) |
V101A |
probably benign |
Het |
Iqsec1 |
G |
T |
6: 90,676,877 (GRCm38) |
Q629K |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,526,813 (GRCm38) |
M254L |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,809,733 (GRCm38) |
|
probably benign |
Het |
Letm1 |
T |
C |
5: 33,745,047 (GRCm38) |
K633E |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,596,595 (GRCm38) |
I307V |
probably benign |
Het |
Mtrr |
T |
C |
13: 68,564,357 (GRCm38) |
T637A |
probably benign |
Het |
Naxe |
C |
A |
3: 88,056,998 (GRCm38) |
D212Y |
probably damaging |
Het |
Nlk |
A |
T |
11: 78,586,936 (GRCm38) |
V327D |
probably damaging |
Het |
Olfr1131 |
A |
T |
2: 87,629,371 (GRCm38) |
I187F |
probably benign |
Het |
Olfr38 |
A |
G |
6: 42,762,946 (GRCm38) |
K298R |
probably null |
Het |
Pdzd8 |
C |
T |
19: 59,300,628 (GRCm38) |
G780D |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,259,237 (GRCm38) |
|
probably benign |
Het |
Qser1 |
A |
T |
2: 104,788,261 (GRCm38) |
H645Q |
probably damaging |
Het |
Rd3l |
A |
G |
12: 111,979,467 (GRCm38) |
Y193H |
probably benign |
Het |
Reln |
A |
G |
5: 21,909,958 (GRCm38) |
Y3119H |
probably damaging |
Het |
Scel |
C |
T |
14: 103,564,821 (GRCm38) |
A219V |
probably benign |
Het |
Skint11 |
A |
T |
4: 114,244,636 (GRCm38) |
Q91L |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,818,128 (GRCm38) |
A696V |
probably damaging |
Het |
Slc5a5 |
C |
A |
8: 70,886,120 (GRCm38) |
D516Y |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,527,863 (GRCm38) |
|
probably null |
Het |
Slc9a3 |
A |
G |
13: 74,163,114 (GRCm38) |
E576G |
possibly damaging |
Het |
Slco1b2 |
A |
T |
6: 141,634,545 (GRCm38) |
|
probably benign |
Het |
Smc5 |
A |
G |
19: 23,231,859 (GRCm38) |
V647A |
probably damaging |
Het |
Snph |
T |
C |
2: 151,594,343 (GRCm38) |
N222D |
possibly damaging |
Het |
Srbd1 |
A |
G |
17: 86,109,231 (GRCm38) |
F500L |
probably benign |
Het |
Stxbp6 |
T |
C |
12: 44,902,023 (GRCm38) |
D101G |
probably damaging |
Het |
Taar7b |
A |
G |
10: 23,999,981 (GRCm38) |
I15V |
probably benign |
Het |
Tdrd12 |
G |
T |
7: 35,501,401 (GRCm38) |
N338K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 30,872,746 (GRCm38) |
A296T |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,896,816 (GRCm38) |
D128E |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,685,171 (GRCm38) |
T3A |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,894,283 (GRCm38) |
|
probably benign |
Het |
Uchl1 |
C |
A |
5: 66,677,039 (GRCm38) |
C47* |
probably null |
Het |
Unc79 |
T |
G |
12: 103,011,283 (GRCm38) |
S182A |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,081,717 (GRCm38) |
T26A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,843,636 (GRCm38) |
L620F |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,306,947 (GRCm38) |
V685A |
probably damaging |
Het |
Zcchc7 |
T |
G |
4: 44,762,250 (GRCm38) |
V126G |
possibly damaging |
Het |
Zmym2 |
A |
G |
14: 56,943,351 (GRCm38) |
T907A |
probably benign |
Het |
|
Other mutations in Abca3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00915:Abca3
|
APN |
17 |
24,374,246 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01538:Abca3
|
APN |
17 |
24,376,473 (GRCm38) |
missense |
possibly damaging |
0.64 |
IGL01633:Abca3
|
APN |
17 |
24,397,353 (GRCm38) |
nonsense |
probably null |
|
IGL01837:Abca3
|
APN |
17 |
24,408,697 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01986:Abca3
|
APN |
17 |
24,408,114 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02049:Abca3
|
APN |
17 |
24,376,730 (GRCm38) |
nonsense |
probably null |
|
IGL02794:Abca3
|
APN |
17 |
24,402,411 (GRCm38) |
missense |
probably benign |
0.05 |
IGL02962:Abca3
|
APN |
17 |
24,400,409 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02963:Abca3
|
APN |
17 |
24,384,529 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03118:Abca3
|
APN |
17 |
24,400,450 (GRCm38) |
missense |
probably benign |
0.17 |
IGL03144:Abca3
|
APN |
17 |
24,381,964 (GRCm38) |
missense |
probably benign |
0.37 |
R0028:Abca3
|
UTSW |
17 |
24,377,724 (GRCm38) |
missense |
probably benign |
0.39 |
R0278:Abca3
|
UTSW |
17 |
24,381,920 (GRCm38) |
missense |
probably benign |
0.09 |
R0570:Abca3
|
UTSW |
17 |
24,374,399 (GRCm38) |
missense |
probably benign |
|
R0825:Abca3
|
UTSW |
17 |
24,400,577 (GRCm38) |
missense |
probably damaging |
1.00 |
R1164:Abca3
|
UTSW |
17 |
24,402,331 (GRCm38) |
missense |
probably damaging |
1.00 |
R1348:Abca3
|
UTSW |
17 |
24,374,238 (GRCm38) |
splice site |
probably null |
|
R1557:Abca3
|
UTSW |
17 |
24,399,980 (GRCm38) |
missense |
possibly damaging |
0.46 |
R1661:Abca3
|
UTSW |
17 |
24,377,842 (GRCm38) |
missense |
probably damaging |
0.99 |
R1665:Abca3
|
UTSW |
17 |
24,377,842 (GRCm38) |
missense |
probably damaging |
0.99 |
R1754:Abca3
|
UTSW |
17 |
24,377,779 (GRCm38) |
missense |
probably benign |
0.00 |
R1828:Abca3
|
UTSW |
17 |
24,366,197 (GRCm38) |
missense |
probably benign |
0.34 |
R1834:Abca3
|
UTSW |
17 |
24,376,692 (GRCm38) |
missense |
probably benign |
0.00 |
R1996:Abca3
|
UTSW |
17 |
24,387,532 (GRCm38) |
missense |
probably damaging |
1.00 |
R2032:Abca3
|
UTSW |
17 |
24,366,082 (GRCm38) |
splice site |
probably benign |
|
R2100:Abca3
|
UTSW |
17 |
24,408,209 (GRCm38) |
missense |
probably damaging |
0.99 |
R2154:Abca3
|
UTSW |
17 |
24,377,719 (GRCm38) |
missense |
probably damaging |
1.00 |
R2240:Abca3
|
UTSW |
17 |
24,376,443 (GRCm38) |
missense |
probably damaging |
0.98 |
R2281:Abca3
|
UTSW |
17 |
24,376,726 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2994:Abca3
|
UTSW |
17 |
24,384,564 (GRCm38) |
missense |
probably damaging |
1.00 |
R4091:Abca3
|
UTSW |
17 |
24,397,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R4294:Abca3
|
UTSW |
17 |
24,400,569 (GRCm38) |
missense |
possibly damaging |
0.96 |
R4496:Abca3
|
UTSW |
17 |
24,383,973 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4633:Abca3
|
UTSW |
17 |
24,387,529 (GRCm38) |
missense |
probably null |
1.00 |
R4866:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5022:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5023:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5072:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5073:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5074:Abca3
|
UTSW |
17 |
24,374,300 (GRCm38) |
missense |
probably damaging |
0.97 |
R5123:Abca3
|
UTSW |
17 |
24,384,460 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5157:Abca3
|
UTSW |
17 |
24,408,122 (GRCm38) |
missense |
probably damaging |
1.00 |
R5183:Abca3
|
UTSW |
17 |
24,374,453 (GRCm38) |
missense |
probably benign |
0.39 |
R5269:Abca3
|
UTSW |
17 |
24,376,743 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5566:Abca3
|
UTSW |
17 |
24,383,927 (GRCm38) |
missense |
probably benign |
|
R5579:Abca3
|
UTSW |
17 |
24,376,729 (GRCm38) |
missense |
probably damaging |
0.97 |
R5620:Abca3
|
UTSW |
17 |
24,396,470 (GRCm38) |
missense |
probably benign |
0.05 |
R5755:Abca3
|
UTSW |
17 |
24,398,454 (GRCm38) |
missense |
probably damaging |
1.00 |
R5954:Abca3
|
UTSW |
17 |
24,397,416 (GRCm38) |
missense |
probably benign |
0.00 |
R6041:Abca3
|
UTSW |
17 |
24,376,380 (GRCm38) |
missense |
probably damaging |
0.99 |
R6187:Abca3
|
UTSW |
17 |
24,408,167 (GRCm38) |
missense |
possibly damaging |
0.88 |
R6253:Abca3
|
UTSW |
17 |
24,397,552 (GRCm38) |
missense |
probably benign |
0.01 |
R6375:Abca3
|
UTSW |
17 |
24,387,562 (GRCm38) |
missense |
possibly damaging |
0.96 |
R6487:Abca3
|
UTSW |
17 |
24,397,472 (GRCm38) |
missense |
possibly damaging |
0.81 |
R6616:Abca3
|
UTSW |
17 |
24,384,535 (GRCm38) |
missense |
probably damaging |
1.00 |
R6632:Abca3
|
UTSW |
17 |
24,384,470 (GRCm38) |
missense |
probably benign |
|
R6781:Abca3
|
UTSW |
17 |
24,374,406 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6918:Abca3
|
UTSW |
17 |
24,408,658 (GRCm38) |
missense |
probably damaging |
1.00 |
R6962:Abca3
|
UTSW |
17 |
24,364,726 (GRCm38) |
missense |
probably benign |
0.39 |
R7163:Abca3
|
UTSW |
17 |
24,364,942 (GRCm38) |
missense |
probably benign |
|
R7199:Abca3
|
UTSW |
17 |
24,377,707 (GRCm38) |
missense |
probably damaging |
1.00 |
R7287:Abca3
|
UTSW |
17 |
24,385,887 (GRCm38) |
missense |
possibly damaging |
0.91 |
R7303:Abca3
|
UTSW |
17 |
24,398,521 (GRCm38) |
missense |
possibly damaging |
0.83 |
R7338:Abca3
|
UTSW |
17 |
24,376,743 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7430:Abca3
|
UTSW |
17 |
24,364,958 (GRCm38) |
critical splice donor site |
probably null |
|
R7437:Abca3
|
UTSW |
17 |
24,400,498 (GRCm38) |
missense |
probably damaging |
0.99 |
R7776:Abca3
|
UTSW |
17 |
24,386,276 (GRCm38) |
missense |
possibly damaging |
0.77 |
R7805:Abca3
|
UTSW |
17 |
24,405,154 (GRCm38) |
critical splice donor site |
probably null |
|
R7811:Abca3
|
UTSW |
17 |
24,397,388 (GRCm38) |
missense |
probably benign |
0.00 |
R7848:Abca3
|
UTSW |
17 |
24,384,532 (GRCm38) |
missense |
probably damaging |
1.00 |
R7859:Abca3
|
UTSW |
17 |
24,384,526 (GRCm38) |
missense |
probably damaging |
1.00 |
R7877:Abca3
|
UTSW |
17 |
24,384,023 (GRCm38) |
nonsense |
probably null |
|
R7893:Abca3
|
UTSW |
17 |
24,385,466 (GRCm38) |
missense |
probably damaging |
1.00 |
R7910:Abca3
|
UTSW |
17 |
24,385,853 (GRCm38) |
missense |
probably benign |
0.09 |
R7911:Abca3
|
UTSW |
17 |
24,398,504 (GRCm38) |
missense |
probably damaging |
1.00 |
R7964:Abca3
|
UTSW |
17 |
24,402,436 (GRCm38) |
missense |
probably benign |
0.26 |
R8016:Abca3
|
UTSW |
17 |
24,364,952 (GRCm38) |
missense |
probably benign |
0.06 |
R8028:Abca3
|
UTSW |
17 |
24,407,697 (GRCm38) |
missense |
probably benign |
0.02 |
R8150:Abca3
|
UTSW |
17 |
24,396,548 (GRCm38) |
missense |
probably benign |
0.08 |
R8298:Abca3
|
UTSW |
17 |
24,385,401 (GRCm38) |
missense |
probably damaging |
1.00 |
R8444:Abca3
|
UTSW |
17 |
24,383,985 (GRCm38) |
missense |
probably damaging |
0.98 |
R8505:Abca3
|
UTSW |
17 |
24,374,497 (GRCm38) |
missense |
probably damaging |
0.97 |
R8547:Abca3
|
UTSW |
17 |
24,397,500 (GRCm38) |
missense |
probably benign |
0.00 |
R8699:Abca3
|
UTSW |
17 |
24,408,225 (GRCm38) |
missense |
probably benign |
0.01 |
R8903:Abca3
|
UTSW |
17 |
24,383,985 (GRCm38) |
missense |
probably damaging |
0.98 |
R9046:Abca3
|
UTSW |
17 |
24,398,503 (GRCm38) |
missense |
probably damaging |
1.00 |
R9136:Abca3
|
UTSW |
17 |
24,377,833 (GRCm38) |
missense |
probably benign |
0.01 |
R9236:Abca3
|
UTSW |
17 |
24,407,738 (GRCm38) |
missense |
probably benign |
0.16 |
R9331:Abca3
|
UTSW |
17 |
24,397,350 (GRCm38) |
missense |
probably benign |
0.00 |
R9585:Abca3
|
UTSW |
17 |
24,400,512 (GRCm38) |
missense |
probably benign |
0.12 |
R9602:Abca3
|
UTSW |
17 |
24,398,404 (GRCm38) |
missense |
probably benign |
0.35 |
R9714:Abca3
|
UTSW |
17 |
24,376,728 (GRCm38) |
missense |
probably benign |
0.44 |
X0018:Abca3
|
UTSW |
17 |
24,396,480 (GRCm38) |
missense |
possibly damaging |
0.63 |
Z1177:Abca3
|
UTSW |
17 |
24,408,236 (GRCm38) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |