Incidental Mutation 'R6309:Abcg3'
| ID |
509726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg3
|
| Ensembl Gene |
ENSMUSG00000029299 |
| Gene Name |
ATP binding cassette subfamily G member 3 |
| Synonyms |
Abcp2, Mxr2 |
| MMRRC Submission |
044413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105082923-105130584 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 105117259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
| AlphaFold |
Q99P81 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031239
|
| SMART Domains |
Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
| 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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197004
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
92% (35/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
| Cerk |
T |
C |
15: 86,040,869 (GRCm39) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
| Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,362,676 (GRCm39) |
|
probably benign |
Het |
| Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
| Lrrn3 |
G |
A |
12: 41,503,205 (GRCm39) |
R371C |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
| Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
| Phf24 |
A |
G |
4: 42,933,960 (GRCm39) |
D14G |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
| Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
| Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,334,394 (GRCm39) |
*84W |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
| Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
probably benign |
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 |
|
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 |
|
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'- ACTTGTCACATGCTTGAGGG -3'
(R):5'- GCTAGTTCACCAAACGATAATGAC -3'
Sequencing Primer
(F):5'- ACATTCTATTTAAACAGTGCTCCACC -3'
(R):5'- TCACCAAACGATAATGACTATGTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation