Incidental Mutation 'R1104:Abcg5'
ID 98418
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 039177-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1104 (G1)
Quality Score 224
Status Validated
Chromosome 17
Chromosomal Location 84965662-84990439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84989477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 77 (I77S)
Ref Sequence ENSEMBL: ENSMUSP00000069495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000066175] [ENSMUST00000163375] [ENSMUST00000170725] [ENSMUST00000171915]
AlphaFold Q99PE8
Predicted Effect probably benign
Transcript: ENSMUST00000045714
SMART Domains Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254

DomainStartEndE-ValueType
Pfam:ABC_tran 89 242 2.1e-29 PFAM
Pfam:ABC2_membrane 397 608 1.7e-36 PFAM
transmembrane domain 640 662 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000066175
AA Change: I77S

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: I77S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000163375
SMART Domains Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000170725
SMART Domains Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254

DomainStartEndE-ValueType
Pfam:ABC_tran 1 115 2.6e-18 PFAM
Pfam:ABC2_membrane 270 481 7.4e-38 PFAM
transmembrane domain 513 535 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171915
SMART Domains Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254

DomainStartEndE-ValueType
Pfam:ABC_tran 88 241 7.5e-30 PFAM
Pfam:ABC2_membrane 396 607 1.7e-37 PFAM
transmembrane domain 639 661 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (70/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930550C14Rik A G 9: 53,332,917 (GRCm39) I93V probably benign Het
Adam3 T C 8: 25,171,545 (GRCm39) Y762C probably benign Het
Agap1 T C 1: 89,716,962 (GRCm39) S26P probably damaging Het
Ago1 T C 4: 126,347,426 (GRCm39) Y441C probably damaging Het
B3gnt3 A G 8: 72,146,481 (GRCm39) L16S possibly damaging Het
Btaf1 T A 19: 36,982,002 (GRCm39) D1677E probably damaging Het
Cd5l T A 3: 87,268,206 (GRCm39) S18T probably benign Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Cfap61 C A 2: 145,792,981 (GRCm39) S64* probably null Het
Cryzl2 T A 1: 157,298,174 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dhrs1 T C 14: 55,981,162 (GRCm39) K83E probably benign Het
Dmrt2 T A 19: 25,655,980 (GRCm39) F526L probably benign Het
Dnajb14 T A 3: 137,614,115 (GRCm39) M342K possibly damaging Het
Dpf3 A G 12: 83,378,761 (GRCm39) V101A probably benign Het
Dthd1 A C 5: 62,979,302 (GRCm39) T321P probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fras1 G A 5: 96,856,530 (GRCm39) R1971Q probably benign Het
Fry A G 5: 150,419,754 (GRCm39) N608S probably damaging Het
Gabrr3 T A 16: 59,281,998 (GRCm39) V451D probably damaging Het
Glg1 A G 8: 111,924,235 (GRCm39) L251P probably benign Het
Gli2 T A 1: 118,781,080 (GRCm39) S222C probably damaging Het
Gsr A G 8: 34,159,949 (GRCm39) E99G probably damaging Het
H1f5 T C 13: 21,964,451 (GRCm39) T92A possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hus1b T C 13: 31,131,679 (GRCm39) probably benign Het
Igf1r T A 7: 67,844,774 (GRCm39) I849N possibly damaging Het
Itih5 A G 2: 10,256,323 (GRCm39) T930A probably benign Het
Ivns1abp T A 1: 151,235,860 (GRCm39) M309K probably benign Het
Kdm3b T A 18: 34,952,864 (GRCm39) F1078Y probably damaging Het
Krt12 C A 11: 99,312,792 (GRCm39) G84V unknown Het
Krt40 T G 11: 99,431,059 (GRCm39) E150A probably damaging Het
Lcn11 G T 2: 25,669,115 (GRCm39) probably benign Het
Lcor G T 19: 41,574,502 (GRCm39) G1086C probably damaging Het
Liph A G 16: 21,802,898 (GRCm39) I57T possibly damaging Het
Lrrc46 C T 11: 96,926,997 (GRCm39) V107M probably damaging Het
Ltb4r1 T C 14: 56,004,832 (GRCm39) I45T probably damaging Het
Mapkbp1 A G 2: 119,841,554 (GRCm39) probably benign Het
Mark3 C T 12: 111,584,831 (GRCm39) probably benign Het
Mug2 C T 6: 122,036,014 (GRCm39) A642V probably benign Het
Myh11 A G 16: 14,019,991 (GRCm39) S1814P possibly damaging Het
Ndst1 T A 18: 60,830,218 (GRCm39) S631C probably damaging Het
Nrbf2 A T 10: 67,103,691 (GRCm39) D137E possibly damaging Het
Or2ag16 A T 7: 106,351,989 (GRCm39) M202K probably benign Het
Or51l4 A G 7: 103,404,183 (GRCm39) V203A probably benign Het
Or6c208 T A 10: 129,224,090 (GRCm39) M196K probably benign Het
Parn A G 16: 13,485,449 (GRCm39) Y16H probably damaging Het
Parp14 A G 16: 35,664,785 (GRCm39) probably benign Het
Prl3d1 C T 13: 27,283,992 (GRCm39) T187I probably benign Het
Ptgir G A 7: 16,641,055 (GRCm39) probably null Het
Rabgap1l C T 1: 160,059,445 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rnf213 T C 11: 119,368,055 (GRCm39) Y4697H probably benign Het
Rps6ka4 T A 19: 6,808,364 (GRCm39) I598F probably damaging Het
Ryr2 C T 13: 11,684,855 (GRCm39) V3029M probably damaging Het
Slc34a1 T C 13: 24,003,920 (GRCm39) F335S probably damaging Het
Spata6l T C 19: 28,945,032 (GRCm39) M1V probably null Het
Stau2 A T 1: 16,510,585 (GRCm39) Y124* probably null Het
Tbl3 A G 17: 24,920,580 (GRCm39) I652T probably benign Het
Trappc3 C T 4: 126,166,759 (GRCm39) probably benign Het
Trim60 A T 8: 65,454,071 (GRCm39) F59L probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,648,453 (GRCm39) F4686S probably benign Het
Vcan T C 13: 89,840,529 (GRCm39) T1672A probably damaging Het
Vmn1r215 T A 13: 23,260,758 (GRCm39) I266N possibly damaging Het
Vmn2r6 A T 3: 64,445,487 (GRCm39) V657E possibly damaging Het
Wdr95 G T 5: 149,529,802 (GRCm39) A548S probably benign Het
Zfp12 A G 5: 143,231,500 (GRCm39) Y609C probably damaging Het
Znfx1 C A 2: 166,897,560 (GRCm39) E455* probably null Het
Other mutations in Abcg5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9123:Abcg5 UTSW 17 84,976,425 (GRCm39) missense probably damaging 1.00
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'- GGCAGGACTTTCCACTCTTTCCAG -3'
(R):5'- TCAGAGACCCAGTAATCAGAGCAGC -3'

Sequencing Primer
(F):5'- CTAGGTTCTATTGGCAGCCAGAC -3'
(R):5'- AGAGTTGTCAACCTGTCCAG -3'
Posted On 2014-01-05