Incidental Mutation 'R8463:Abcg4'
| ID |
656668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg4
|
| Ensembl Gene |
ENSMUSG00000032131 |
| Gene Name |
ATP binding cassette subfamily G member 4 |
| Synonyms |
6430517O04Rik |
| MMRRC Submission |
067907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R8463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44192909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 146
(I146F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000161408]
[ENSMUST00000162783]
|
| AlphaFold |
Q91WA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034648
AA Change: I146F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: I146F
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
94 |
285 |
4.46e-14 |
SMART |
|
Pfam:ABC2_membrane
|
372 |
583 |
1.6e-49 |
PFAM |
|
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160384
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161354
AA Change: I146F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: I146F
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
94 |
285 |
4.46e-14 |
SMART |
|
Pfam:ABC2_membrane
|
372 |
583 |
4.8e-47 |
PFAM |
|
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162783
|
| SMART Domains |
Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:AAA
|
1 |
37 |
9e-20 |
BLAST |
|
SCOP:d1gcya2
|
33 |
64 |
1e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a report allele exhibit increased brain lathosterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
G |
T |
15: 64,792,874 (GRCm39) |
D27E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,113 (GRCm39) |
I2466V |
probably benign |
Het |
| BC005624 |
T |
A |
2: 30,871,817 (GRCm39) |
E19V |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,211,608 (GRCm39) |
F279I |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,659,353 (GRCm39) |
L335M |
probably benign |
Het |
| Cdkn1c |
G |
A |
7: 143,014,324 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,415 (GRCm39) |
P1186L |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,353,236 (GRCm39) |
L75S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,749,580 (GRCm39) |
E338D |
possibly damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,617,441 (GRCm39) |
M289I |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,519,875 (GRCm39) |
D134V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,683,801 (GRCm39) |
Y106C |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,420,081 (GRCm39) |
K599E |
possibly damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,084,375 (GRCm39) |
I154F |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,842,053 (GRCm39) |
E141D |
probably benign |
Het |
| Gmds |
T |
C |
13: 32,003,906 (GRCm39) |
N371S |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,554 (GRCm39) |
A136T |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,893,672 (GRCm39) |
|
probably null |
Het |
| Hnmt |
T |
C |
2: 23,938,836 (GRCm39) |
M1V |
probably null |
Het |
| Hydin |
T |
C |
8: 111,237,553 (GRCm39) |
V1942A |
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,332,506 (GRCm39) |
A236S |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,896 (GRCm39) |
H654L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,322,250 (GRCm39) |
T1893M |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,922 (GRCm39) |
Y99* |
probably null |
Het |
| Mdga1 |
T |
C |
17: 30,068,703 (GRCm39) |
D208G |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,348 (GRCm39) |
E218G |
probably damaging |
Het |
| Mif4gd |
T |
A |
11: 115,499,324 (GRCm39) |
D186V |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,283 (GRCm39) |
Y191C |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,271 (GRCm39) |
V482L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,435 (GRCm39) |
T695S |
unknown |
Het |
| Muc4 |
A |
T |
16: 32,574,201 (GRCm39) |
M760L |
probably benign |
Het |
| Mybl2 |
A |
T |
2: 162,916,638 (GRCm39) |
S430C |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,276,896 (GRCm39) |
N211D |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,851,011 (GRCm39) |
T294A |
probably damaging |
Het |
| Or51k2 |
G |
A |
7: 103,595,834 (GRCm39) |
|
probably null |
Het |
| Or5w16 |
A |
T |
2: 87,577,437 (GRCm39) |
E299V |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,922,526 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
G |
18: 37,576,287 (GRCm39) |
S222A |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
A |
T |
10: 79,703,397 (GRCm39) |
V29E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,354 (GRCm39) |
P96L |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,599 (GRCm39) |
*222R |
probably null |
Het |
| Prss2 |
T |
A |
6: 41,498,739 (GRCm39) |
M1K |
probably null |
Het |
| Prss3 |
C |
A |
6: 41,352,059 (GRCm39) |
R68L |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,787,619 (GRCm39) |
Q512* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,801 (GRCm39) |
I65T |
probably benign |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,082 (GRCm39) |
A78T |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,897,583 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 44,003,605 (GRCm39) |
R1766G |
possibly damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,694,615 (GRCm39) |
L54P |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,820,886 (GRCm39) |
K386E |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,248 (GRCm39) |
S393P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,249,590 (GRCm39) |
V66A |
unknown |
Het |
| Tpm1 |
G |
T |
9: 66,955,512 (GRCm39) |
A45E |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,069,039 (GRCm39) |
Y294H |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,299,430 (GRCm39) |
V130A |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,369,340 (GRCm39) |
V78L |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,168 (GRCm39) |
V654A |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,914 (GRCm39) |
M1I |
probably null |
Het |
| Xpnpep3 |
A |
G |
15: 81,332,672 (GRCm39) |
K403R |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,810 (GRCm39) |
T154A |
possibly damaging |
Het |
|
| Other mutations in Abcg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Abcg4
|
APN |
9 |
44,186,439 (GRCm39) |
splice site |
probably benign |
|
|
IGL00585:Abcg4
|
APN |
9 |
44,192,920 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02016:Abcg4
|
APN |
9 |
44,198,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02085:Abcg4
|
APN |
9 |
44,192,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02142:Abcg4
|
APN |
9 |
44,189,014 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02171:Abcg4
|
APN |
9 |
44,186,306 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02309:Abcg4
|
APN |
9 |
44,193,125 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02882:Abcg4
|
APN |
9 |
44,188,786 (GRCm39) |
nonsense |
probably null |
|
|
R0009:Abcg4
|
UTSW |
9 |
44,188,946 (GRCm39) |
splice site |
probably benign |
|
|
R0023:Abcg4
|
UTSW |
9 |
44,186,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0481:Abcg4
|
UTSW |
9 |
44,190,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0513:Abcg4
|
UTSW |
9 |
44,192,984 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0644:Abcg4
|
UTSW |
9 |
44,185,996 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0649:Abcg4
|
UTSW |
9 |
44,189,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1084:Abcg4
|
UTSW |
9 |
44,188,766 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1518:Abcg4
|
UTSW |
9 |
44,186,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1528:Abcg4
|
UTSW |
9 |
44,186,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1702:Abcg4
|
UTSW |
9 |
44,186,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1932:Abcg4
|
UTSW |
9 |
44,190,691 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4477:Abcg4
|
UTSW |
9 |
44,186,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Abcg4
|
UTSW |
9 |
44,198,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Abcg4
|
UTSW |
9 |
44,190,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Abcg4
|
UTSW |
9 |
44,188,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5039:Abcg4
|
UTSW |
9 |
44,192,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Abcg4
|
UTSW |
9 |
44,186,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5329:Abcg4
|
UTSW |
9 |
44,190,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5492:Abcg4
|
UTSW |
9 |
44,189,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5521:Abcg4
|
UTSW |
9 |
44,190,980 (GRCm39) |
unclassified |
probably benign |
|
|
R5558:Abcg4
|
UTSW |
9 |
44,192,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5625:Abcg4
|
UTSW |
9 |
44,189,333 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6318:Abcg4
|
UTSW |
9 |
44,186,645 (GRCm39) |
missense |
probably benign |
|
|
R7060:Abcg4
|
UTSW |
9 |
44,186,425 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7129:Abcg4
|
UTSW |
9 |
44,190,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7431:Abcg4
|
UTSW |
9 |
44,185,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7452:Abcg4
|
UTSW |
9 |
44,190,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Abcg4
|
UTSW |
9 |
44,186,063 (GRCm39) |
nonsense |
probably null |
|
|
R8978:Abcg4
|
UTSW |
9 |
44,192,395 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9144:Abcg4
|
UTSW |
9 |
44,192,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0028:Abcg4
|
UTSW |
9 |
44,185,931 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTTGGCAGAGACCTAAAC -3'
(R):5'- CATTCATGAACATCTTGGCAGGG -3'
Sequencing Primer
(F):5'- TTGGCAGAGACCTAAACAAGTGAC -3'
(R):5'- TCATGAACATCTTGGCAGGGTACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation