Incidental Mutation 'R6872:Abcg3'
| ID |
536199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg3
|
| Ensembl Gene |
ENSMUSG00000029299 |
| Gene Name |
ATP binding cassette subfamily G member 3 |
| Synonyms |
Abcp2, Mxr2 |
| MMRRC Submission |
044969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6872 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105082923-105130584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105083860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 637
(T637A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
| AlphaFold |
Q99P81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031239
AA Change: T637A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: T637A
| 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 benign
Transcript: ENSMUST00000130644
|
| SMART Domains |
Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,750 (GRCm39) |
V336I |
probably benign |
Het |
| Aadacl4fm4 |
A |
T |
4: 144,397,216 (GRCm39) |
L172* |
probably null |
Het |
| Ap3d1 |
G |
A |
10: 80,550,156 (GRCm39) |
R692* |
probably null |
Het |
| Aqp2 |
C |
T |
15: 99,481,885 (GRCm39) |
H260Y |
probably benign |
Het |
| Btbd2 |
C |
A |
10: 80,480,166 (GRCm39) |
R383L |
probably damaging |
Het |
| Ccdc196 |
T |
A |
12: 78,244,141 (GRCm39) |
D31E |
probably damaging |
Het |
| Ccdc24 |
T |
C |
4: 117,727,123 (GRCm39) |
T196A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,220,509 (GRCm39) |
G463S |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,212 (GRCm39) |
R570* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,584,516 (GRCm39) |
N1357K |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,614,053 (GRCm39) |
Q65L |
probably benign |
Het |
| Ddo |
A |
C |
10: 40,513,414 (GRCm39) |
M119L |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,981,653 (GRCm39) |
L3058F |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,200,022 (GRCm39) |
N186S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,862,325 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,885 (GRCm39) |
Y144C |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,563,287 (GRCm39) |
I281N |
probably damaging |
Het |
| Fgf2 |
A |
G |
3: 37,458,860 (GRCm39) |
K85E |
probably damaging |
Het |
| Fubp1 |
A |
T |
3: 151,931,783 (GRCm39) |
Q37L |
probably benign |
Het |
| Gabra2 |
G |
T |
5: 71,251,882 (GRCm39) |
P22T |
probably damaging |
Het |
| Gm10401 |
T |
C |
5: 115,236,245 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,556 (GRCm39) |
D275G |
possibly damaging |
Het |
| Iglv3 |
A |
G |
16: 19,060,034 (GRCm39) |
I98T |
probably damaging |
Het |
| Lmod1 |
G |
T |
1: 135,292,879 (GRCm39) |
R578L |
probably damaging |
Het |
| Mindy2 |
A |
G |
9: 70,524,044 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
T |
2: 52,183,657 (GRCm39) |
Q1004K |
probably damaging |
Het |
| Nkx2-9 |
T |
G |
12: 56,658,674 (GRCm39) |
N180T |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,311,709 (GRCm39) |
R922H |
probably benign |
Het |
| Nol4l |
T |
C |
2: 153,325,737 (GRCm39) |
E116G |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,961 (GRCm39) |
L23P |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,218 (GRCm39) |
E581D |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,019,331 (GRCm39) |
T750K |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,784 (GRCm39) |
E324G |
probably benign |
Het |
| Ramp3 |
T |
C |
11: 6,624,768 (GRCm39) |
C21R |
possibly damaging |
Het |
| Rpap1 |
A |
C |
2: 119,605,850 (GRCm39) |
M345R |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,310,519 (GRCm39) |
K350Q |
probably benign |
Het |
| St13 |
C |
T |
15: 81,250,547 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
T |
2: 120,544,549 (GRCm39) |
K4497* |
probably null |
Het |
| Tbx19 |
A |
T |
1: 164,975,202 (GRCm39) |
|
probably null |
Het |
| Tgoln1 |
A |
G |
6: 72,592,538 (GRCm39) |
V314A |
possibly damaging |
Het |
| Them4 |
A |
T |
3: 94,231,678 (GRCm39) |
I172F |
probably damaging |
Het |
| Tmc7 |
T |
A |
7: 118,146,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,840,669 (GRCm39) |
L421P |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 121,998,391 (GRCm39) |
E121G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,194,976 (GRCm39) |
R783S |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zbtb7a |
A |
G |
10: 80,983,905 (GRCm39) |
N449S |
possibly damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,805,306 (GRCm39) |
C575F |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,012,326 (GRCm39) |
A1431T |
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,673,576 (GRCm39) |
V180A |
probably benign |
Het |
| Zfp605 |
C |
T |
5: 110,275,311 (GRCm39) |
P143L |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,482,505 (GRCm39) |
S1561P |
probably benign |
Het |
| Zfp706 |
T |
C |
15: 37,002,190 (GRCm39) |
T46A |
possibly 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 |
|
|
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 |
|
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'- GAGGGATCCAGTCTTATGCAG -3'
(R):5'- TTAAGGGAAGCAACAGTGAATCTAC -3'
Sequencing Primer
(F):5'- TGTGAGCAGCCATAAGTCTC -3'
(R):5'- TTGATCTCTCATCGTGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation