Incidental Mutation 'R7217:Abcg3'
ID |
561529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg3
|
Ensembl Gene |
ENSMUSG00000029299 |
Gene Name |
ATP binding cassette subfamily G member 3 |
Synonyms |
Abcp2, Mxr2 |
MMRRC Submission |
045289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R7217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105082923-105130584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105087094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 543
(F543L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
AlphaFold |
Q99P81 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031239
AA Change: F543L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000031239 Gene: ENSMUSG00000029299 AA Change: F543L
Domain | Start | End | E-Value | Type |
Pfam:ABC_tran
|
64 |
207 |
5.9e-9 |
PFAM |
Pfam:ABC2_membrane
|
367 |
578 |
1.8e-29 |
PFAM |
transmembrane domain
|
623 |
642 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130644
AA Change: F513L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120179 Gene: ENSMUSG00000029299 AA Change: F513L
Domain | Start | End | E-Value | Type |
Pfam:ABC_tran
|
64 |
207 |
7.6e-9 |
PFAM |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
Pfam:ABC2_membrane
|
414 |
548 |
1.9e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.5199 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
91% (40/44) |
MGI Phenotype |
FUNCTION: The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
Het |
|
Other mutations in Abcg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00820:Abcg3
|
APN |
5 |
105,083,878 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01363:Abcg3
|
APN |
5 |
105,096,228 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02097:Abcg3
|
APN |
5 |
105,109,052 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02554:Abcg3
|
APN |
5 |
105,117,318 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02561:Abcg3
|
APN |
5 |
105,125,536 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02974:Abcg3
|
APN |
5 |
105,116,129 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03058:Abcg3
|
APN |
5 |
105,109,112 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03153:Abcg3
|
APN |
5 |
105,122,631 (GRCm39) |
splice site |
probably benign |
|
IGL03377:Abcg3
|
APN |
5 |
105,096,256 (GRCm39) |
missense |
probably benign |
0.01 |
R0110:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
R0469:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
R0510:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
R0530:Abcg3
|
UTSW |
5 |
105,083,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R0579:Abcg3
|
UTSW |
5 |
105,121,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R1237:Abcg3
|
UTSW |
5 |
105,096,223 (GRCm39) |
missense |
probably damaging |
0.96 |
R1505:Abcg3
|
UTSW |
5 |
105,099,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R1627:Abcg3
|
UTSW |
5 |
105,083,880 (GRCm39) |
missense |
probably benign |
0.00 |
R1717:Abcg3
|
UTSW |
5 |
105,111,421 (GRCm39) |
nonsense |
probably null |
|
R1797:Abcg3
|
UTSW |
5 |
105,087,030 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1899:Abcg3
|
UTSW |
5 |
105,086,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R1974:Abcg3
|
UTSW |
5 |
105,111,504 (GRCm39) |
missense |
probably benign |
0.01 |
R2136:Abcg3
|
UTSW |
5 |
105,114,680 (GRCm39) |
missense |
probably benign |
0.04 |
R2285:Abcg3
|
UTSW |
5 |
105,087,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R3880:Abcg3
|
UTSW |
5 |
105,086,046 (GRCm39) |
splice site |
probably benign |
|
R4242:Abcg3
|
UTSW |
5 |
105,109,079 (GRCm39) |
missense |
probably benign |
|
R4738:Abcg3
|
UTSW |
5 |
105,121,849 (GRCm39) |
missense |
probably benign |
|
R5225:Abcg3
|
UTSW |
5 |
105,114,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5309:Abcg3
|
UTSW |
5 |
105,084,465 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5704:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
R5705:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
R5785:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
R6155:Abcg3
|
UTSW |
5 |
105,111,510 (GRCm39) |
missense |
probably benign |
0.00 |
R6309:Abcg3
|
UTSW |
5 |
105,117,259 (GRCm39) |
critical splice donor site |
probably null |
|
R6814:Abcg3
|
UTSW |
5 |
105,083,860 (GRCm39) |
missense |
probably benign |
|
R6872:Abcg3
|
UTSW |
5 |
105,083,860 (GRCm39) |
missense |
probably benign |
|
R6916:Abcg3
|
UTSW |
5 |
105,122,601 (GRCm39) |
missense |
probably benign |
0.16 |
R7310:Abcg3
|
UTSW |
5 |
105,114,632 (GRCm39) |
missense |
probably benign |
0.01 |
R7343:Abcg3
|
UTSW |
5 |
105,116,100 (GRCm39) |
missense |
probably benign |
0.00 |
R7401:Abcg3
|
UTSW |
5 |
105,114,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R7531:Abcg3
|
UTSW |
5 |
105,125,507 (GRCm39) |
missense |
probably benign |
|
R7685:Abcg3
|
UTSW |
5 |
105,116,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Abcg3
|
UTSW |
5 |
105,083,944 (GRCm39) |
missense |
probably benign |
0.00 |
R7819:Abcg3
|
UTSW |
5 |
105,125,594 (GRCm39) |
missense |
probably benign |
0.05 |
R7942:Abcg3
|
UTSW |
5 |
105,087,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Abcg3
|
UTSW |
5 |
105,100,948 (GRCm39) |
critical splice donor site |
probably null |
|
R9181:Abcg3
|
UTSW |
5 |
105,121,962 (GRCm39) |
missense |
probably benign |
|
R9529:Abcg3
|
UTSW |
5 |
105,121,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R9641:Abcg3
|
UTSW |
5 |
105,084,483 (GRCm39) |
missense |
probably benign |
|
X0022:Abcg3
|
UTSW |
5 |
105,096,282 (GRCm39) |
missense |
probably benign |
0.02 |
X0026:Abcg3
|
UTSW |
5 |
105,086,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGACATTTCTGGGCAGCAG -3'
(R):5'- GAACCTTGGCATTGACAAGAG -3'
Sequencing Primer
(F):5'- CAGCAGCTGGTTAGAGATTATAGC -3'
(R):5'- CCTTGGCATTGACAAGAGTAAAGAC -3'
|
Posted On |
2019-06-26 |