Incidental Mutation 'R7338:Abca3'
| ID |
569669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca3
|
| Ensembl Gene |
ENSMUSG00000024130 |
| Gene Name |
ATP-binding cassette, sub-family A member 3 |
| Synonyms |
Abc3, 1810036E22Rik, ABC-C |
| MMRRC Submission |
045428-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24570997-24629178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24595717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 357
(S357P)
|
| 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: S357P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: S357P
| 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: S357P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: S357P
| 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: S357P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: S357P
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
T |
C |
17: 68,203,106 (GRCm39) |
R166G |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
| Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
| Cd180 |
A |
C |
13: 102,842,936 (GRCm39) |
I661L |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
| Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
| Chga |
G |
T |
12: 102,529,100 (GRCm39) |
S359I |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
| Cyp2a5 |
A |
T |
7: 26,542,372 (GRCm39) |
Q458L |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
| Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
| Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
| Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
| Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
| Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
| Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
| Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
| Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
| Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
| Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
| Prr36 |
G |
A |
8: 4,266,212 (GRCm39) |
R113C |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
| Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
| Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
| Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
probably benign |
Het |
|
| Other mutations in Abca3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Abca3
|
APN |
17 |
24,593,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Abca3
|
APN |
17 |
24,595,447 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01633:Abca3
|
APN |
17 |
24,616,327 (GRCm39) |
nonsense |
probably null |
|
|
IGL01837:Abca3
|
APN |
17 |
24,627,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Abca3
|
APN |
17 |
24,627,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02049:Abca3
|
APN |
17 |
24,595,704 (GRCm39) |
nonsense |
probably null |
|
|
IGL02186:Abca3
|
APN |
17 |
24,596,714 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02794:Abca3
|
APN |
17 |
24,621,385 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02962:Abca3
|
APN |
17 |
24,619,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Abca3
|
APN |
17 |
24,603,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Abca3
|
APN |
17 |
24,619,424 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03144:Abca3
|
APN |
17 |
24,600,938 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0028:Abca3
|
UTSW |
17 |
24,596,698 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0278:Abca3
|
UTSW |
17 |
24,600,894 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0570:Abca3
|
UTSW |
17 |
24,593,373 (GRCm39) |
missense |
probably benign |
|
|
R0825:Abca3
|
UTSW |
17 |
24,619,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Abca3
|
UTSW |
17 |
24,621,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1348:Abca3
|
UTSW |
17 |
24,593,212 (GRCm39) |
splice site |
probably null |
|
|
R1557:Abca3
|
UTSW |
17 |
24,618,954 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1661:Abca3
|
UTSW |
17 |
24,596,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1665:Abca3
|
UTSW |
17 |
24,596,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1754:Abca3
|
UTSW |
17 |
24,596,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1828:Abca3
|
UTSW |
17 |
24,585,171 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1834:Abca3
|
UTSW |
17 |
24,595,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1996:Abca3
|
UTSW |
17 |
24,606,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Abca3
|
UTSW |
17 |
24,585,056 (GRCm39) |
splice site |
probably benign |
|
|
R2100:Abca3
|
UTSW |
17 |
24,627,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2154:Abca3
|
UTSW |
17 |
24,596,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Abca3
|
UTSW |
17 |
24,595,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2281:Abca3
|
UTSW |
17 |
24,595,700 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2994:Abca3
|
UTSW |
17 |
24,603,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Abca3
|
UTSW |
17 |
24,616,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Abca3
|
UTSW |
17 |
24,619,543 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4496:Abca3
|
UTSW |
17 |
24,602,947 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4633:Abca3
|
UTSW |
17 |
24,606,503 (GRCm39) |
missense |
probably null |
1.00 |
|
R4866:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5022:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5023:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5072:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5073:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5074:Abca3
|
UTSW |
17 |
24,593,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5123:Abca3
|
UTSW |
17 |
24,603,434 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5157:Abca3
|
UTSW |
17 |
24,627,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Abca3
|
UTSW |
17 |
24,593,427 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5269:Abca3
|
UTSW |
17 |
24,595,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5566:Abca3
|
UTSW |
17 |
24,602,901 (GRCm39) |
missense |
probably benign |
|
|
R5579:Abca3
|
UTSW |
17 |
24,595,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5620:Abca3
|
UTSW |
17 |
24,615,444 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5755:Abca3
|
UTSW |
17 |
24,617,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Abca3
|
UTSW |
17 |
24,616,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6041:Abca3
|
UTSW |
17 |
24,595,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6187:Abca3
|
UTSW |
17 |
24,627,141 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6253:Abca3
|
UTSW |
17 |
24,616,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6375:Abca3
|
UTSW |
17 |
24,606,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6487:Abca3
|
UTSW |
17 |
24,616,446 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6616:Abca3
|
UTSW |
17 |
24,603,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6632:Abca3
|
UTSW |
17 |
24,603,444 (GRCm39) |
missense |
probably benign |
|
|
R6781:Abca3
|
UTSW |
17 |
24,593,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6918:Abca3
|
UTSW |
17 |
24,627,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Abca3
|
UTSW |
17 |
24,583,700 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7163:Abca3
|
UTSW |
17 |
24,583,916 (GRCm39) |
missense |
probably benign |
|
|
R7199:Abca3
|
UTSW |
17 |
24,596,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Abca3
|
UTSW |
17 |
24,604,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7303:Abca3
|
UTSW |
17 |
24,617,495 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7430:Abca3
|
UTSW |
17 |
24,583,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7437:Abca3
|
UTSW |
17 |
24,619,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7776:Abca3
|
UTSW |
17 |
24,605,250 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7805:Abca3
|
UTSW |
17 |
24,624,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7811:Abca3
|
UTSW |
17 |
24,616,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7848:Abca3
|
UTSW |
17 |
24,603,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Abca3
|
UTSW |
17 |
24,603,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Abca3
|
UTSW |
17 |
24,602,997 (GRCm39) |
nonsense |
probably null |
|
|
R7893:Abca3
|
UTSW |
17 |
24,604,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Abca3
|
UTSW |
17 |
24,604,827 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7911:Abca3
|
UTSW |
17 |
24,617,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Abca3
|
UTSW |
17 |
24,621,410 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8016:Abca3
|
UTSW |
17 |
24,583,926 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8028:Abca3
|
UTSW |
17 |
24,626,671 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8150:Abca3
|
UTSW |
17 |
24,615,522 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8298:Abca3
|
UTSW |
17 |
24,604,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Abca3
|
UTSW |
17 |
24,602,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8505:Abca3
|
UTSW |
17 |
24,593,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8547:Abca3
|
UTSW |
17 |
24,616,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8699:Abca3
|
UTSW |
17 |
24,627,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8903:Abca3
|
UTSW |
17 |
24,602,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9046:Abca3
|
UTSW |
17 |
24,617,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Abca3
|
UTSW |
17 |
24,596,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9236:Abca3
|
UTSW |
17 |
24,626,712 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9331:Abca3
|
UTSW |
17 |
24,616,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9585:Abca3
|
UTSW |
17 |
24,619,486 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9602:Abca3
|
UTSW |
17 |
24,617,378 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9714:Abca3
|
UTSW |
17 |
24,595,702 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0018:Abca3
|
UTSW |
17 |
24,615,454 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1177:Abca3
|
UTSW |
17 |
24,627,210 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTCAGGGCAAGTGTTTC -3'
(R):5'- ATTAAGCCTCAGCCTTTCAGGAG -3'
Sequencing Primer
(F):5'- TCAGGGCAAGTGTTTCCCCTG -3'
(R):5'- AGGAGTTCTCTCTTCAGTTCAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation