Incidental Mutation 'R1709:Fabp3'
ID 190298
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 039742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1709 (G1)
Quality Score 225
Status Not 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,566,942 (GRCm39) K152E probably benign Het
Adgrd1 T C 5: 129,256,292 (GRCm39) V641A possibly damaging Het
Adgrv1 A T 13: 81,741,179 (GRCm39) V95E probably damaging Het
Agbl5 G A 5: 31,063,585 (GRCm39) C872Y probably damaging Het
Aldh1a7 G T 19: 20,693,316 (GRCm39) T201K probably damaging Het
Aox1 C T 1: 58,116,633 (GRCm39) A788V probably benign Het
Apob T C 12: 8,059,306 (GRCm39) V2563A probably damaging Het
Atcay G A 10: 81,049,065 (GRCm39) T179I probably damaging Het
Atf5 A T 7: 44,462,707 (GRCm39) L139Q probably benign Het
Atp13a3 T C 16: 30,134,659 (GRCm39) T1205A probably benign Het
Atr C T 9: 95,753,129 (GRCm39) T656I probably benign Het
Bloc1s3 T C 7: 19,241,453 (GRCm39) E25G possibly damaging Het
Brap T C 5: 121,803,353 (GRCm39) probably null Het
C6 G T 15: 4,820,452 (GRCm39) A488S probably benign Het
Ccin T C 4: 43,984,133 (GRCm39) F180S probably damaging Het
Cd207 T C 6: 83,649,818 (GRCm39) I256V possibly damaging Het
Cdc42bpa G T 1: 179,894,789 (GRCm39) C323F probably damaging Het
Cfap57 T C 4: 118,428,901 (GRCm39) T1022A probably benign Het
Cmtr2 A T 8: 110,948,581 (GRCm39) Q297L probably benign Het
Coro7 A T 16: 4,452,305 (GRCm39) probably null Het
Cpsf2 T A 12: 101,965,801 (GRCm39) Y589N probably damaging Het
Cpxm2 T C 7: 131,661,563 (GRCm39) Y408C probably damaging Het
Crocc A G 4: 140,753,410 (GRCm39) probably null Het
Cryzl1 A C 16: 91,509,124 (GRCm39) F59C probably damaging Het
Csmd2 T C 4: 128,389,988 (GRCm39) V2241A probably damaging Het
Cxcl15 C A 5: 90,949,275 (GRCm39) H147N unknown Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dnah10 C T 5: 124,837,155 (GRCm39) P966L probably damaging Het
Dpp9 T A 17: 56,501,431 (GRCm39) M594L probably benign Het
Dspp C A 5: 104,323,590 (GRCm39) N244K probably damaging Het
Efcab8 T A 2: 153,656,290 (GRCm39) probably null Het
Elapor2 C T 5: 9,490,726 (GRCm39) R579* probably null Het
Fbxw17 A G 13: 50,585,693 (GRCm39) M299V probably benign Het
Fbxw7 T A 3: 84,883,659 (GRCm39) I530N probably damaging Het
Gp2 C A 7: 119,050,808 (GRCm39) D308Y probably null Het
Gpd2 G A 2: 57,247,667 (GRCm39) V537M probably damaging Het
Gpr18 T A 14: 122,149,404 (GRCm39) Y207F probably damaging Het
Grip1 A T 10: 119,733,620 (GRCm39) D20V probably damaging Het
Gzmf A C 14: 56,444,397 (GRCm39) F59V probably damaging Het
H3c1 T A 13: 23,945,964 (GRCm39) I125F probably damaging Het
Igfn1 T C 1: 135,883,311 (GRCm39) I2732V probably benign Het
Ipo8 A T 6: 148,684,226 (GRCm39) D855E probably benign Het
Klrk1 A T 6: 129,591,682 (GRCm39) probably null Het
Megf11 A G 9: 64,602,694 (GRCm39) Y876C probably damaging Het
Mettl8 G T 2: 70,812,495 (GRCm39) Q12K probably benign Het
Mrgprf T C 7: 144,861,954 (GRCm39) F172S probably benign Het
Mycbp2 G A 14: 103,461,852 (GRCm39) T1432I probably damaging Het
Nek11 A C 9: 105,225,260 (GRCm39) L84R probably damaging Het
Nlrp1b T C 11: 71,092,099 (GRCm39) E9G probably benign Het
Nrxn1 T C 17: 90,344,615 (GRCm39) I433V probably damaging Het
Nup153 A G 13: 46,847,450 (GRCm39) C660R probably damaging Het
Or1o11 T A 17: 37,757,091 (GRCm39) Y226* probably null Het
Or2a25 T C 6: 42,889,078 (GRCm39) V207A possibly damaging Het
Or4z4 G T 19: 12,076,245 (GRCm39) P253T probably damaging Het
Or5h26 T A 16: 58,988,264 (GRCm39) M81L probably benign Het
P2rx7 T A 5: 122,808,528 (GRCm39) N303K possibly damaging Het
Pank4 T C 4: 155,054,504 (GRCm39) L159P probably damaging Het
Pcdhb22 A T 18: 37,651,553 (GRCm39) H7L probably benign Het
Pdzd8 A T 19: 59,289,771 (GRCm39) I543N probably benign Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prrc2b C A 2: 32,084,473 (GRCm39) R313S probably damaging Het
Rbm12b1 T C 4: 12,145,827 (GRCm39) C600R probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rfx6 T A 10: 51,554,498 (GRCm39) M113K possibly damaging Het
Rlf A T 4: 121,007,020 (GRCm39) D653E probably benign Het
Rnf130 A G 11: 49,978,213 (GRCm39) D258G possibly damaging Het
Robo2 A G 16: 73,753,411 (GRCm39) V822A possibly damaging Het
Rps6kc1 G T 1: 190,532,533 (GRCm39) Q490K possibly damaging Het
Scn9a T C 2: 66,313,850 (GRCm39) Y1945C probably damaging Het
Setd2 T A 9: 110,378,925 (GRCm39) D913E probably benign Het
Sfr1 G T 19: 47,723,442 (GRCm39) E315D possibly damaging Het
Smarca5 G A 8: 81,435,849 (GRCm39) R763* probably null Het
Sugct A C 13: 17,847,151 (GRCm39) I44S probably damaging Het
Syce1l A G 8: 114,380,662 (GRCm39) probably null Het
Tbc1d8b A G X: 138,634,829 (GRCm39) I654V probably benign Het
Tcf23 T A 5: 31,130,852 (GRCm39) Y163* probably null Het
Terf2ip TG T 8: 112,738,238 (GRCm39) probably null Het
Tmem158 T C 9: 123,088,950 (GRCm39) S221G possibly damaging Het
Tnrc6a A G 7: 122,769,205 (GRCm39) T332A probably benign Het
Trappc4 T C 9: 44,318,508 (GRCm39) T31A probably benign Het
Trim27 T C 13: 21,372,235 (GRCm39) probably null Het
Ttyh2 T A 11: 114,599,301 (GRCm39) L330Q probably damaging Het
Tubgcp3 A T 8: 12,689,532 (GRCm39) L578* probably null Het
Txndc11 C A 16: 10,946,565 (GRCm39) E83* probably null Het
Utp20 T C 10: 88,585,159 (GRCm39) K2635R probably benign Het
V1ra8 C T 6: 90,180,304 (GRCm39) T169I probably damaging Het
Vcl G A 14: 21,069,441 (GRCm39) V706I probably benign Het
Vmn2r106 A T 17: 20,499,373 (GRCm39) D179E probably benign Het
Vmn2r80 T C 10: 79,030,223 (GRCm39) M683T probably benign Het
Xirp2 A G 2: 67,340,215 (GRCm39) I819V probably benign Het
Zfp735 T C 11: 73,602,589 (GRCm39) F511S probably benign Het
Zfp831 T C 2: 174,487,683 (GRCm39) V786A probably benign Het
Zfp992 T A 4: 146,550,949 (GRCm39) H223Q probably benign Het
Zfyve19 A C 2: 119,041,300 (GRCm39) Q72P probably damaging 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
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
R2901: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'- CTACAAAATCTTCCAGGGGCAGGAC -3'
(R):5'- GCAGCACTGAGCAGGCTTTATGAAC -3'

Sequencing Primer
(F):5'- CAAAGACGTGGGCCACTG -3'
(R):5'- AGGCTTTATGAACCTGCCC -3'
Posted On 2014-05-14