Incidental Mutation 'IGL01637:Fam19a3'
ID 93055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam19a3
Ensembl Gene ENSMUSG00000055865
Gene Name family with sequence similarity 19, member A3
Synonyms Tafa-3, 7530404M11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.032) question?
Stock # IGL01637
Quality Score
Status
Chromosome 3
Chromosomal Location 104767406-104781840 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104773079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 75 (V75M)
Ref Sequence ENSEMBL: ENSMUSP00000123514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139783]
AlphaFold Q7TPG6
Predicted Effect probably damaging
Transcript: ENSMUST00000139783
AA Change: V75M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123514
Gene: ENSMUSG00000055865
AA Change: V75M

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:TAFA 42 130 4.2e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199762
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 (GRCm38) I384N probably damaging Het
Adsl G T 15: 80,948,700 (GRCm38) Q51H probably null Het
Apcdd1 A G 18: 62,937,286 (GRCm38) E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 (GRCm38) R155* probably null Het
Atp9b T C 18: 80,756,455 (GRCm38) E823G probably benign Het
Bmp1 A G 14: 70,492,461 (GRCm38) W468R probably damaging Het
C6 A G 15: 4,759,917 (GRCm38) I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 (GRCm38) T1392A probably benign Het
Dhx34 G T 7: 16,205,473 (GRCm38) S665Y probably damaging Het
Dock1 A T 7: 135,137,813 (GRCm38) probably null Het
Dpp7 T C 2: 25,354,613 (GRCm38) N252S probably benign Het
Dyrk2 A G 10: 118,860,507 (GRCm38) V282A probably damaging Het
Edrf1 T C 7: 133,650,525 (GRCm38) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm38) V150A probably benign Het
Fam170a A T 18: 50,281,667 (GRCm38) M127L possibly damaging Het
Gabrg1 T A 5: 70,777,205 (GRCm38) T277S probably damaging Het
Galntl5 T C 5: 25,189,825 (GRCm38) probably benign Het
Gbp2b A G 3: 142,598,312 (GRCm38) N56S probably damaging Het
Gfm2 T A 13: 97,150,409 (GRCm38) V172E probably damaging Het
Gm10419 T C 5: 108,372,358 (GRCm38) probably benign Het
Gm7293 A G 9: 51,623,606 (GRCm38) noncoding transcript Het
Gstm3 T C 3: 107,967,633 (GRCm38) E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 (GRCm38) W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 (GRCm38) probably benign Het
Ighv7-1 T A 12: 113,896,503 (GRCm38) I90F possibly damaging Het
Itga2b A G 11: 102,455,583 (GRCm38) L1009P probably damaging Het
Kif1a A G 1: 93,039,853 (GRCm38) V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 (GRCm38) D232E possibly damaging Het
Klb G A 5: 65,375,679 (GRCm38) probably null Het
Lrriq1 G A 10: 103,215,628 (GRCm38) A421V probably benign Het
Mdga1 G A 17: 29,839,871 (GRCm38) R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 (GRCm38) probably benign Het
Myo18b T A 5: 112,840,629 (GRCm38) R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 (GRCm38) H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 (GRCm38) L594I probably damaging Het
Notch2 C T 3: 98,146,060 (GRCm38) T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 (GRCm38) T6S probably benign Het
Olfr131 G A 17: 38,082,103 (GRCm38) L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 (GRCm38) R95S probably benign Het
Olfr812 A G 10: 129,842,610 (GRCm38) L144P probably benign Het
Olfr845 T C 9: 19,338,964 (GRCm38) F168S probably damaging Het
Panx3 T C 9: 37,664,056 (GRCm38) D170G probably damaging Het
Pclo A G 5: 14,540,034 (GRCm38) S783G unknown Het
Pde3b T A 7: 114,526,901 (GRCm38) L790* probably null Het
Pik3r2 T C 8: 70,772,348 (GRCm38) probably benign Het
Rassf4 A G 6: 116,641,690 (GRCm38) F211L probably damaging Het
Rbl2 C T 8: 91,106,438 (GRCm38) P666S probably benign Het
Rnf123 A G 9: 108,058,238 (GRCm38) F979L probably damaging Het
Rock2 T A 12: 16,965,171 (GRCm38) D788E probably benign Het
Serpina3b A G 12: 104,132,957 (GRCm38) T244A probably benign Het
Setd1b T C 5: 123,148,513 (GRCm38) S541P unknown Het
Slc12a4 T C 8: 105,960,707 (GRCm38) D60G possibly damaging Het
Stac2 T C 11: 98,041,354 (GRCm38) E241G probably benign Het
Tas2r115 A G 6: 132,737,629 (GRCm38) Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 (GRCm38) F450I probably benign Het
Txnl1 A T 18: 63,674,191 (GRCm38) I198N probably damaging Het
Ubr2 A T 17: 46,956,654 (GRCm38) M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 (GRCm38) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm38) T3623I probably damaging Het
Usp13 T A 3: 32,919,064 (GRCm38) S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 (GRCm38) T203S probably damaging Het
Vwf T A 6: 125,645,736 (GRCm38) I1718N probably damaging Het
Zfr A G 15: 12,159,646 (GRCm38) H676R probably benign Het
Other mutations in Fam19a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0530:Fam19a3 UTSW 3 104,772,171 (GRCm38) splice site probably benign
R5778:Fam19a3 UTSW 3 104,772,189 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-09