Incidental Mutation 'R9123:Abcg5'
| ID |
693055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg5
|
| Ensembl Gene |
ENSMUSG00000040505 |
| Gene Name |
ATP binding cassette subfamily G member 5 |
| Synonyms |
trac, Sterolin-1, cmp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R9123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84965662-84990439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84976425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 471
(H471Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066175]
[ENSMUST00000163375]
|
| AlphaFold |
Q99PE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066175
AA Change: H471Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: H471Y
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
79 |
271 |
2.28e-11 |
SMART |
|
Pfam:ABC2_membrane
|
367 |
581 |
1.3e-24 |
PFAM |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163375
AA Change: H299Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: H299Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_tran
|
1 |
134 |
7.8e-17 |
PFAM |
|
Pfam:ABC2_membrane
|
195 |
409 |
1.4e-23 |
PFAM |
|
transmembrane domain
|
449 |
471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
T |
A |
3: 126,733,744 (GRCm39) |
D622V |
probably damaging |
Het |
| Apoe |
T |
A |
7: 19,432,375 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
T |
C |
6: 18,054,561 (GRCm39) |
E414G |
probably benign |
Het |
| Atp2a2 |
A |
T |
5: 122,604,918 (GRCm39) |
C420* |
probably null |
Het |
| Cd84 |
A |
T |
1: 171,712,153 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
T |
A |
14: 67,917,762 (GRCm39) |
R545S |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cib1 |
T |
C |
7: 79,877,751 (GRCm39) |
D182G |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,555 (GRCm39) |
D428G |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,505,374 (GRCm39) |
P2168S |
|
Het |
| Dap3 |
T |
A |
3: 88,837,861 (GRCm39) |
T130S |
probably benign |
Het |
| Ddb2 |
T |
A |
2: 91,064,593 (GRCm39) |
K106* |
probably null |
Het |
| Ehd2 |
G |
A |
7: 15,684,626 (GRCm39) |
A391V |
probably damaging |
Het |
| Evpl |
A |
T |
11: 116,115,008 (GRCm39) |
I894N |
possibly damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,693 (GRCm39) |
T184A |
probably damaging |
Het |
| Gfpt1 |
G |
A |
6: 87,053,248 (GRCm39) |
V403I |
probably benign |
Het |
| Gli1 |
A |
G |
10: 127,167,202 (GRCm39) |
S684P |
possibly damaging |
Het |
| Gm7276 |
A |
G |
18: 77,273,147 (GRCm39) |
S196P |
unknown |
Het |
| Hoxc10 |
C |
T |
15: 102,875,810 (GRCm39) |
P173L |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,238,863 (GRCm39) |
N3034D |
unknown |
Het |
| Kif2c |
A |
T |
4: 117,024,291 (GRCm39) |
S359T |
probably benign |
Het |
| Lmln |
T |
G |
16: 32,930,202 (GRCm39) |
L553R |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mettl1 |
T |
A |
10: 126,880,911 (GRCm39) |
V191D |
possibly damaging |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Myl1 |
A |
T |
1: 66,973,675 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,078,141 (GRCm39) |
T427A |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,038 (GRCm39) |
Y289C |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,294 (GRCm39) |
V225M |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,506,108 (GRCm39) |
I197K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,178,589 (GRCm39) |
I1776T |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,285,497 (GRCm39) |
I246V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,386,739 (GRCm39) |
E116V |
probably damaging |
Het |
| Psme2 |
T |
A |
14: 55,828,302 (GRCm39) |
K15N |
possibly damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,618 (GRCm39) |
R125C |
probably damaging |
Het |
| Rnf145 |
G |
T |
11: 44,450,819 (GRCm39) |
R381L |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,771,229 (GRCm39) |
T2604I |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,751,043 (GRCm39) |
S170P |
probably damaging |
Het |
| Sema3b |
T |
A |
9: 107,478,173 (GRCm39) |
N404I |
possibly damaging |
Het |
| Serpina1b |
A |
T |
12: 103,696,566 (GRCm39) |
L281Q |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,878,598 (GRCm39) |
T372S |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,423,919 (GRCm39) |
N524Y |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,693,583 (GRCm39) |
D1262E |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 76,040,838 (GRCm39) |
H3832L |
probably damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,174,202 (GRCm39) |
T868K |
possibly damaging |
Het |
| Trp63 |
C |
T |
16: 25,639,247 (GRCm39) |
A145V |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,823,802 (GRCm39) |
R1001K |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,189,444 (GRCm39) |
D30G |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,041,030 (GRCm39) |
T1837A |
probably benign |
Het |
| Usp25 |
T |
A |
16: 76,911,969 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
G |
A |
6: 58,192,416 (GRCm39) |
T196I |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,407,254 (GRCm39) |
S75F |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,209,134 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,526,106 (GRCm39) |
F210L |
probably damaging |
Het |
| Zfp853 |
G |
A |
5: 143,274,496 (GRCm39) |
Q390* |
probably null |
Het |
| Zfyve9 |
A |
T |
4: 108,575,760 (GRCm39) |
D440E |
probably benign |
Het |
|
| Other mutations in Abcg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Abcg5
|
APN |
17 |
84,972,275 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01844:Abcg5
|
APN |
17 |
84,989,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Abcg5
|
APN |
17 |
84,989,479 (GRCm39) |
nonsense |
probably null |
|
|
IGL02116:Abcg5
|
APN |
17 |
84,981,018 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02339:Abcg5
|
APN |
17 |
84,981,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02568:Abcg5
|
APN |
17 |
84,977,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4142001:Abcg5
|
UTSW |
17 |
84,981,022 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0539:Abcg5
|
UTSW |
17 |
84,976,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1104:Abcg5
|
UTSW |
17 |
84,989,477 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1795:Abcg5
|
UTSW |
17 |
84,981,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Abcg5
|
UTSW |
17 |
84,977,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Abcg5
|
UTSW |
17 |
84,981,030 (GRCm39) |
frame shift |
probably null |
|
|
R2007:Abcg5
|
UTSW |
17 |
84,977,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Abcg5
|
UTSW |
17 |
84,978,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2120:Abcg5
|
UTSW |
17 |
84,978,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2121:Abcg5
|
UTSW |
17 |
84,978,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2122:Abcg5
|
UTSW |
17 |
84,978,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2124:Abcg5
|
UTSW |
17 |
84,978,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2858:Abcg5
|
UTSW |
17 |
84,977,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3121:Abcg5
|
UTSW |
17 |
84,966,091 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4694:Abcg5
|
UTSW |
17 |
84,979,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Abcg5
|
UTSW |
17 |
84,966,076 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4963:Abcg5
|
UTSW |
17 |
84,967,569 (GRCm39) |
nonsense |
probably null |
|
|
R5187:Abcg5
|
UTSW |
17 |
84,965,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Abcg5
|
UTSW |
17 |
84,978,634 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5445:Abcg5
|
UTSW |
17 |
84,978,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Abcg5
|
UTSW |
17 |
84,967,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Abcg5
|
UTSW |
17 |
84,979,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6007:Abcg5
|
UTSW |
17 |
84,976,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7303:Abcg5
|
UTSW |
17 |
84,977,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Abcg5
|
UTSW |
17 |
84,983,667 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7639:Abcg5
|
UTSW |
17 |
84,977,531 (GRCm39) |
missense |
probably benign |
|
|
R7844:Abcg5
|
UTSW |
17 |
84,981,018 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7996:Abcg5
|
UTSW |
17 |
84,977,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Abcg5
|
UTSW |
17 |
84,965,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Abcg5
|
UTSW |
17 |
84,965,956 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8258:Abcg5
|
UTSW |
17 |
84,983,523 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8259:Abcg5
|
UTSW |
17 |
84,983,523 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8831:Abcg5
|
UTSW |
17 |
84,976,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Abcg5
|
UTSW |
17 |
84,990,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Abcg5
|
UTSW |
17 |
84,990,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9074:Abcg5
|
UTSW |
17 |
84,972,257 (GRCm39) |
synonymous |
silent |
|
|
R9125:Abcg5
|
UTSW |
17 |
84,976,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Abcg5
|
UTSW |
17 |
84,976,380 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Abcg5
|
UTSW |
17 |
84,983,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACAAGGATGGAGCGGTTCTC -3'
(R):5'- TGTGGGGTCTTTGCTACCAC -3'
Sequencing Primer
(F):5'- TTCTCCGGGGAGCTAGCTG -3'
(R):5'- TGCCCCCAGGTAGTATGTAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation