Incidental Mutation 'R7434:Fabp12'
ID 576616
Institutional Source Beutler Lab
Gene Symbol Fabp12
Ensembl Gene ENSMUSG00000027530
Gene Name fatty acid binding protein 12
Synonyms 1700008G05Rik
MMRRC Submission 045511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7434 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 10309269-10366243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10312738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 95 (V95I)
Ref Sequence ENSEMBL: ENSMUSP00000029043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029043] [ENSMUST00000117917] [ENSMUST00000119761] [ENSMUST00000172126]
AlphaFold Q9DAK4
Predicted Effect probably benign
Transcript: ENSMUST00000029043
AA Change: V95I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029043
Gene: ENSMUSG00000027530
AA Change: V95I

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117917
AA Change: V95I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112464
Gene: ENSMUSG00000027530
AA Change: V95I

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119761
AA Change: V95I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112958
Gene: ENSMUSG00000027530
AA Change: V95I

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172126
AA Change: V95I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131101
Gene: ENSMUSG00000027530
AA Change: V95I

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 1.4e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,344,115 (GRCm39) V1731A probably damaging Het
Bcat2 A G 7: 45,225,429 (GRCm39) probably null Het
Bcl6 T G 16: 23,788,798 (GRCm39) E523D possibly damaging Het
Cdcp3 C T 7: 130,881,212 (GRCm39) S1828F unknown Het
Col4a2 T A 8: 11,471,250 (GRCm39) N503K probably damaging Het
Cyb5r1 G A 1: 134,335,576 (GRCm39) C166Y probably benign Het
Cyp2w1 T C 5: 139,342,775 (GRCm39) V490A possibly damaging Het
Erich6b A G 14: 75,901,024 (GRCm39) I113V probably benign Het
Gask1b T A 3: 79,848,669 (GRCm39) F472I probably damaging Het
Gpr3 T C 4: 132,938,448 (GRCm39) M75V probably benign Het
Grm5 T G 7: 87,779,682 (GRCm39) S1073A probably benign Het
Hoxc9 A G 15: 102,892,414 (GRCm39) K209R probably damaging Het
Irgm2 T G 11: 58,110,291 (GRCm39) V6G probably benign Het
Jakmip2 A G 18: 43,690,444 (GRCm39) V627A possibly damaging Het
Kansl1l C G 1: 66,801,262 (GRCm39) S568T probably damaging Het
Lims1 A G 10: 58,230,301 (GRCm39) T21A probably benign Het
Lpar2 G T 8: 70,279,165 (GRCm39) A320S probably benign Het
Lpcat4 A G 2: 112,073,400 (GRCm39) N235S probably damaging Het
Ly6g2 T C 15: 75,088,567 (GRCm39) F12L probably benign Het
Meis1 A T 11: 18,835,542 (GRCm39) S359T unknown Het
Mtor C T 4: 148,549,416 (GRCm39) T600I probably benign Het
Ncbp1 T C 4: 46,149,910 (GRCm39) S144P probably damaging Het
Ncor1 T C 11: 62,274,025 (GRCm39) E205G probably damaging Het
Nid1 T C 13: 13,643,049 (GRCm39) I329T probably benign Het
Nos3 T C 5: 24,587,633 (GRCm39) I1031T probably damaging Het
Nyap1 A G 5: 137,734,530 (GRCm39) S168P probably damaging Het
Or56a4 A G 7: 104,806,106 (GRCm39) V261A probably damaging Het
Pam T A 1: 97,903,515 (GRCm39) K73* probably null Het
Pcdhga11 T C 18: 37,891,005 (GRCm39) V671A probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ric1 A G 19: 29,552,180 (GRCm39) D317G probably damaging Het
Scn1a T C 2: 66,103,389 (GRCm39) E1957G probably benign Het
Srcap T C 7: 127,159,414 (GRCm39) S3097P unknown Het
Tas2r113 C T 6: 132,870,272 (GRCm39) T100I probably benign Het
Tnni1 A G 1: 135,735,260 (GRCm39) D57G Het
Trim29 G A 9: 43,246,428 (GRCm39) V575I probably damaging Het
Trpv3 G A 11: 73,179,087 (GRCm39) V499M probably damaging Het
Ubr1 C T 2: 120,693,161 (GRCm39) M1748I probably benign Het
Upk1a A T 7: 30,306,617 (GRCm39) M99K probably damaging Het
Usp16 T A 16: 87,276,207 (GRCm39) L515* probably null Het
Vmn1r103 T C 7: 20,244,435 (GRCm39) K9E probably damaging Het
Vwde A G 6: 13,187,639 (GRCm39) V616A probably benign Het
Zfp101 A T 17: 33,600,564 (GRCm39) S397R possibly damaging Het
Other mutations in Fabp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Fabp12 APN 3 10,311,115 (GRCm39) splice site probably benign
IGL00957:Fabp12 APN 3 10,315,273 (GRCm39) critical splice acceptor site probably null
IGL01774:Fabp12 APN 3 10,312,754 (GRCm39) missense probably benign 0.00
IGL01822:Fabp12 APN 3 10,311,082 (GRCm39) nonsense probably null
IGL02047:Fabp12 APN 3 10,312,778 (GRCm39) splice site probably benign
IGL02164:Fabp12 APN 3 10,311,075 (GRCm39) missense probably damaging 0.99
IGL03108:Fabp12 APN 3 10,315,114 (GRCm39) missense probably benign 0.12
R0501:Fabp12 UTSW 3 10,315,203 (GRCm39) missense probably benign 0.00
R0647:Fabp12 UTSW 3 10,311,096 (GRCm39) missense possibly damaging 0.55
R1134:Fabp12 UTSW 3 10,312,731 (GRCm39) missense probably benign 0.17
R2020:Fabp12 UTSW 3 10,315,209 (GRCm39) missense probably benign 0.00
R5269:Fabp12 UTSW 3 10,315,167 (GRCm39) missense probably benign 0.12
R9022:Fabp12 UTSW 3 10,317,333 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTCTCAACCCATAGGAGTTTC -3'
(R):5'- AGCACTGCTAGGAAGGTTTTG -3'

Sequencing Primer
(F):5'- CTCAACCCATAGGAGTTTCAAATTC -3'
(R):5'- CACTGCTAGGAAGGTTTTGAAACAAC -3'
Posted On 2019-10-07