Incidental Mutation 'R7531:Abcg3'
| ID |
583307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg3
|
| Ensembl Gene |
ENSMUSG00000029299 |
| Gene Name |
ATP binding cassette subfamily G member 3 |
| Synonyms |
Abcp2, Mxr2 |
| MMRRC Submission |
045603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7531 (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 105125507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 59
(Y59H)
|
| 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: Y59H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: Y59H
| 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
AA Change: Y59H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: Y59H
| 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: 99.2%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| Abca12 |
T |
A |
1: 71,286,332 (GRCm39) |
T2501S |
probably damaging |
Het |
| Acsf2 |
G |
T |
11: 94,464,057 (GRCm39) |
|
probably null |
Het |
| Adam25 |
T |
A |
8: 41,206,914 (GRCm39) |
I60K |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,254,261 (GRCm39) |
V1729E |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,177,895 (GRCm39) |
V31I |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,104,089 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,328,884 (GRCm39) |
H52R |
probably damaging |
Het |
| Aspa |
G |
A |
11: 73,204,351 (GRCm39) |
Q206* |
probably null |
Het |
| Bpgm |
A |
G |
6: 34,481,223 (GRCm39) |
I207V |
possibly damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,142 (GRCm39) |
S187P |
possibly damaging |
Het |
| Clec4e |
A |
G |
6: 123,262,533 (GRCm39) |
F128S |
probably benign |
Het |
| Crisp3 |
A |
G |
17: 40,545,629 (GRCm39) |
F82L |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,243,350 (GRCm39) |
L497P |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Ddx11 |
A |
T |
17: 66,445,214 (GRCm39) |
T379S |
probably benign |
Het |
| Depdc1a |
A |
C |
3: 159,228,276 (GRCm39) |
T343P |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,389 (GRCm39) |
I546V |
probably damaging |
Het |
| Fam114a2 |
A |
G |
11: 57,404,542 (GRCm39) |
V74A |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,656 (GRCm39) |
F490L |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,177 (GRCm39) |
R68S |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,950 (GRCm39) |
I154V |
possibly damaging |
Het |
| Gm45844 |
T |
C |
7: 7,243,185 (GRCm39) |
T22A |
probably benign |
Het |
| Gramd2a |
A |
T |
9: 59,617,193 (GRCm39) |
I83F |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,767,420 (GRCm39) |
T994A |
unknown |
Het |
| Hectd1 |
C |
T |
12: 51,853,150 (GRCm39) |
V124I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,562,531 (GRCm39) |
D2342E |
probably benign |
Het |
| Hyal6 |
A |
T |
6: 24,740,786 (GRCm39) |
H313L |
possibly damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,523 (GRCm39) |
|
probably benign |
Het |
| Keap1 |
A |
G |
9: 21,148,623 (GRCm39) |
I128T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,700 (GRCm39) |
S28P |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,942 (GRCm39) |
C260S |
unknown |
Het |
| Lepr |
T |
A |
4: 101,609,372 (GRCm39) |
W320R |
probably damaging |
Het |
| Lmod3 |
A |
T |
6: 97,225,403 (GRCm39) |
N139K |
probably benign |
Het |
| Marchf1 |
C |
G |
8: 66,838,989 (GRCm39) |
S10R |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,765,755 (GRCm39) |
K380* |
probably null |
Het |
| Npy1r |
C |
A |
8: 67,157,546 (GRCm39) |
F285L |
probably damaging |
Het |
| Nr1h3 |
C |
T |
2: 91,014,739 (GRCm39) |
R427H |
probably damaging |
Het |
| Or5p79 |
T |
A |
7: 108,221,269 (GRCm39) |
N83K |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,582,008 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,556,369 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
G |
1: 150,330,786 (GRCm39) |
E629A |
unknown |
Het |
| Rin2 |
T |
G |
2: 145,700,419 (GRCm39) |
S199A |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,298,388 (GRCm39) |
L587Q |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,324,566 (GRCm39) |
C31S |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,523 (GRCm39) |
|
probably null |
Het |
| Sema3a |
T |
C |
5: 13,615,805 (GRCm39) |
Y410H |
probably damaging |
Het |
| Smpd5 |
T |
C |
15: 76,180,539 (GRCm39) |
V447A |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,723,682 (GRCm39) |
D524V |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,197,523 (GRCm39) |
Y179F |
probably damaging |
Het |
| Tm9sf2 |
T |
C |
14: 122,379,824 (GRCm39) |
S292P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,819,838 (GRCm39) |
D543G |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,249,879 (GRCm39) |
V469E |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,090,924 (GRCm39) |
I172N |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,473 (GRCm39) |
L146S |
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 |
|
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'- AGAGCCTTGTGCCATGTGTG -3'
(R):5'- AAGAACCTCCTGAGATGGCTTC -3'
Sequencing Primer
(F):5'- CCTTTAATACCAGTACTAGGGAGGC -3'
(R):5'- CCTGAGATGGCTTCTAATAATGACCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation