Incidental Mutation 'R3422:Tafa1'
ID 267082
Institutional Source Beutler Lab
Gene Symbol Tafa1
Ensembl Gene ENSMUSG00000059187
Gene Name TAFA chemokine like family member 1
Synonyms Tafa-1, Fam19a1, C630007B19Rik
MMRRC Submission 040640-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3422 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 96090135-96634159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96626099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 112 (D112E)
Ref Sequence ENSEMBL: ENSMUSP00000113152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075080] [ENSMUST00000122120]
AlphaFold Q7TPG8
Predicted Effect probably damaging
Transcript: ENSMUST00000075080
AA Change: D112E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074589
Gene: ENSMUSG00000059187
AA Change: D112E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 40 129 3.9e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122120
AA Change: D112E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113152
Gene: ENSMUSG00000059187
AA Change: D112E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 41 129 4e-50 PFAM
Meta Mutation Damage Score 0.2114 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Ahnak A G 19: 8,983,072 (GRCm39) D1452G probably benign Het
Ahnak A G 19: 8,984,116 (GRCm39) D1800G probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brca2 A G 5: 150,466,586 (GRCm39) T2117A possibly damaging Het
Ccdc73 A T 2: 104,782,292 (GRCm39) K216M probably null Het
Ccdc73 G A 2: 104,782,293 (GRCm39) probably null Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Grin1 C T 2: 25,193,926 (GRCm39) G390D probably damaging Het
Ifit1bl1 T G 19: 34,571,350 (GRCm39) N369T probably benign Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Me2 C T 18: 73,924,265 (GRCm39) A316T probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nmt2 A G 2: 3,285,425 (GRCm39) E31G possibly damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Nwd2 G T 5: 63,882,536 (GRCm39) V63L possibly damaging Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Otub1 C T 19: 7,176,424 (GRCm39) D237N probably damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slc7a3 T A X: 100,124,481 (GRCm39) probably benign Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Spink5 A G 18: 44,143,311 (GRCm39) K756R probably benign Het
Tlr4 A G 4: 66,757,773 (GRCm39) I189V probably benign Het
Vsig2 G A 9: 37,452,775 (GRCm39) V195I possibly damaging Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp91 G A 19: 12,747,656 (GRCm39) A489V probably benign Het
Other mutations in Tafa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2039:Tafa1 UTSW 6 96,631,725 (GRCm39) splice site probably null
R3420:Tafa1 UTSW 6 96,626,099 (GRCm39) missense probably damaging 1.00
R3421:Tafa1 UTSW 6 96,626,099 (GRCm39) missense probably damaging 1.00
R5745:Tafa1 UTSW 6 96,626,146 (GRCm39) missense probably damaging 0.99
R6175:Tafa1 UTSW 6 96,092,721 (GRCm39) missense probably benign 0.03
R7318:Tafa1 UTSW 6 96,092,737 (GRCm39) critical splice donor site probably null
R7746:Tafa1 UTSW 6 96,092,737 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCATCCAGTCTTAGCAGATGGAG -3'
(R):5'- CACTGACCCACCTAGTTCAG -3'

Sequencing Primer
(F):5'- TCTTAGCAGATGGAGGTAGGCC -3'
(R):5'- ACCTAGTTCAGAATACGTCCTG -3'
Posted On 2015-02-18