Incidental Mutation 'R2901:Fabp3'
ID 261466
Institutional Source Beutler Lab
Gene Symbol Fabp3
Ensembl Gene ENSMUSG00000028773
Gene Name fatty acid binding protein 3, muscle and heart
Synonyms Fabph-1, Fabp3, Fabph4, H-FABP, Mdgi, Fabph1, Fabph-4
MMRRC Submission 040489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2901 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130202531-130209256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130206180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 57 (T57I)
Ref Sequence ENSEMBL: ENSMUSP00000070709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070532] [ENSMUST00000097865] [ENSMUST00000134159]
AlphaFold P11404
Predicted Effect probably benign
Transcript: ENSMUST00000070532
AA Change: T57I

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070709
Gene: ENSMUSG00000028773
AA Change: T57I

DomainStartEndE-ValueType
Pfam:Lipocalin_7 3 133 3.2e-13 PFAM
Pfam:Lipocalin 6 132 4.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097865
SMART Domains Protein: ENSMUSP00000095477
Gene: ENSMUSG00000073752

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134159
SMART Domains Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772

DomainStartEndE-ValueType
S1 14 86 4.47e-11 SMART
ZnF_C2HC 132 148 4.56e-1 SMART
low complexity region 160 171 N/A INTRINSIC
low complexity region 182 211 N/A INTRINSIC
low complexity region 227 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149755
Meta Mutation Damage Score 0.7568 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Inactivation of this locus results in impaired fatty acid utilization. Homozygous null mice show exercise intolerance and cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,038,231 (GRCm39) M276K probably damaging Het
Angpt4 G T 2: 151,753,259 (GRCm39) C3F unknown Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cep192 C T 18: 68,002,512 (GRCm39) R2236C possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Dnah7a A T 1: 53,467,031 (GRCm39) L3611Q probably damaging Het
Gm3336 T C 8: 71,173,275 (GRCm39) S96P possibly damaging Het
Gm9845 T A 3: 39,412,742 (GRCm39) noncoding transcript Het
Klf12 G T 14: 100,137,582 (GRCm39) F321L probably damaging Het
Klhl20 G T 1: 160,937,122 (GRCm39) C84* probably null Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lpin1 T C 12: 16,603,999 (GRCm39) K578E probably benign Het
Mgat4f T C 1: 134,318,662 (GRCm39) L478P probably damaging Het
Mrc1 A G 2: 14,333,354 (GRCm39) H1345R possibly damaging Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Or10w1 C T 19: 13,632,309 (GRCm39) P167L probably damaging Het
Or8g34 T A 9: 39,373,234 (GRCm39) I169N probably damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Ptp4a1 T C 1: 30,982,385 (GRCm39) N142D possibly damaging Het
Simc1 G A 13: 54,689,331 (GRCm39) probably null Het
Snai2 T C 16: 14,523,847 (GRCm39) S4P possibly damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Stmn2 A G 3: 8,606,981 (GRCm39) I34V probably benign Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Ubr3 T C 2: 69,846,536 (GRCm39) S1620P possibly damaging Het
Vps51 G A 19: 6,126,468 (GRCm39) R95W probably damaging Het
Zup1 C T 10: 33,803,608 (GRCm39) R492Q probably damaging Het
Zup1 T C 10: 33,804,059 (GRCm39) T472A probably benign Het
Other mutations in Fabp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
cardio UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1111:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1112:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1114:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1116:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1144:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1146:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1146:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1147:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1147:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1460:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1505:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1506:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1508:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1509:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1582:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1601:Fabp3 UTSW 4 130,202,641 (GRCm39) missense probably benign 0.24
R1612:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1641:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1664:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1670:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1686:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1690:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1709:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1854:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1855:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R1935:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2107:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2208:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2211:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2392:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2393:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2829:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2830:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2831:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2964:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2975:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2979:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2980:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2981:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2982:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R2983:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3430:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3612:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3613:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3614:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3755:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3756:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R3825:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R3842:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4012:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4280:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R4282:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R4405:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4406:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4466:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4503:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R4547:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R4548:Fabp3 UTSW 4 130,206,245 (GRCm39) splice site probably null
R4671:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4681:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4710:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4743:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4850:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R4989:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R5015:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R5133:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R5134:Fabp3 UTSW 4 130,206,180 (GRCm39) missense probably benign 0.21
R5549:Fabp3 UTSW 4 130,209,018 (GRCm39) makesense probably null
R5884:Fabp3 UTSW 4 130,206,131 (GRCm39) missense probably benign 0.01
R7170:Fabp3 UTSW 4 130,207,763 (GRCm39) missense probably benign 0.06
R7967:Fabp3 UTSW 4 130,207,781 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCACAAACTTCTCTTTGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'

Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
Posted On 2015-01-23