Incidental Mutation 'R7942:Abcg3'
| ID |
649101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg3
|
| Ensembl Gene |
ENSMUSG00000029299 |
| Gene Name |
ATP binding cassette subfamily G member 3 |
| Synonyms |
Abcp2, Mxr2 |
| MMRRC Submission |
045988-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7942 (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 105087027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 565
(I565T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
| AlphaFold |
Q99P81 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031239
AA Change: I565T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: I565T
| 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 |
probably damaging
Transcript: ENSMUST00000130644
AA Change: I535T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: I535T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,864,778 (GRCm39) |
C423Y |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,870,209 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
C |
1: 179,613,660 (GRCm39) |
V490G |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,261,218 (GRCm39) |
T478A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,683,989 (GRCm39) |
S559G |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,376,590 (GRCm39) |
T924A |
probably damaging |
Het |
| Atp13a1 |
A |
G |
8: 70,259,870 (GRCm39) |
E1126G |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,382 (GRCm39) |
V617A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldnd1 |
A |
T |
16: 58,550,078 (GRCm39) |
N87I |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,709,275 (GRCm39) |
V784E |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,507,575 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,595 (GRCm39) |
K212R |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,254,706 (GRCm39) |
C186G |
possibly damaging |
Het |
| Fsip1 |
G |
A |
2: 117,967,092 (GRCm39) |
T411I |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,785 (GRCm39) |
T460A |
probably benign |
Het |
| Gm19410 |
G |
A |
8: 36,238,940 (GRCm39) |
G70R |
probably damaging |
Het |
| Gna15 |
G |
A |
10: 81,359,745 (GRCm39) |
T15I |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,571,570 (GRCm39) |
C1198R |
probably damaging |
Het |
| Hoxd1 |
A |
G |
2: 74,594,504 (GRCm39) |
Y253C |
probably damaging |
Het |
| Il17re |
G |
T |
6: 113,443,111 (GRCm39) |
Q316H |
probably damaging |
Het |
| Jakmip1 |
C |
A |
5: 37,331,182 (GRCm39) |
P621T |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,894 (GRCm39) |
Y448C |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,137 (GRCm39) |
|
probably null |
Het |
| Marchf11 |
A |
G |
15: 26,409,505 (GRCm39) |
*401W |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,789,829 (GRCm39) |
|
probably null |
Het |
| Mms19 |
C |
A |
19: 41,944,400 (GRCm39) |
V310F |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,674 (GRCm39) |
F3296I |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,146,422 (GRCm39) |
I121N |
probably damaging |
Het |
| Nr0b2 |
T |
C |
4: 133,280,847 (GRCm39) |
S38P |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,243 (GRCm39) |
M52K |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,945,054 (GRCm39) |
I177T |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,566 (GRCm39) |
N229S |
probably benign |
Het |
| Polr3gl |
A |
T |
3: 96,489,552 (GRCm39) |
|
probably null |
Het |
| Ptch2 |
T |
A |
4: 116,963,198 (GRCm39) |
F228L |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,070,360 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
G |
A |
1: 131,768,635 (GRCm39) |
V198I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,709 (GRCm39) |
D527G |
possibly damaging |
Het |
| Spaca7b |
A |
G |
8: 11,705,615 (GRCm39) |
I164T |
unknown |
Het |
| Spag16 |
G |
T |
1: 69,866,247 (GRCm39) |
A29S |
probably benign |
Het |
| Speer4f2 |
T |
A |
5: 17,582,630 (GRCm39) |
D284E |
unknown |
Het |
| Sspo |
A |
G |
6: 48,465,434 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,517 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tek |
C |
T |
4: 94,740,111 (GRCm39) |
|
probably null |
Het |
| Tet3 |
C |
T |
6: 83,353,956 (GRCm39) |
V902M |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,810,928 (GRCm39) |
V590M |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,499 (GRCm39) |
V357A |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,203 (GRCm39) |
V133A |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,529 (GRCm39) |
L314I |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,061 (GRCm39) |
A178V |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,577,754 (GRCm39) |
S1120P |
probably benign |
Het |
| Zfp57 |
T |
C |
17: 37,320,566 (GRCm39) |
F140S |
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 |
|
R7217:Abcg3
|
UTSW |
5 |
105,087,094 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
|
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'- GGCAACTTACTGACCATAGGC -3'
(R):5'- GAACCTTGGCATTGACAAGAG -3'
Sequencing Primer
(F):5'- CTTACTGACCATAGGCTAAGTAAAAC -3'
(R):5'- CCTTGGCATTGACAAGAGTAAAGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation