Incidental Mutation 'R7994:Tafa4'
ID 651931
Institutional Source Beutler Lab
Gene Symbol Tafa4
Ensembl Gene ENSMUSG00000046500
Gene Name TAFA chemokine like family member 4
Synonyms Tafa4, Fam19a4, C130034I18Rik
MMRRC Submission 046035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R7994 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 96808164-97037374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96840847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 49 (E49K)
Ref Sequence ENSEMBL: ENSMUSP00000086710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089295]
AlphaFold Q7TPG5
Predicted Effect probably damaging
Transcript: ENSMUST00000089295
AA Change: E49K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086710
Gene: ENSMUSG00000046500
AA Change: E49K

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TAFA 45 133 1.6e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G C 5: 124,220,090 (GRCm39) F318L probably benign Het
Adad1 T C 3: 37,146,120 (GRCm39) I496T possibly damaging Het
Amotl1 T A 9: 14,504,657 (GRCm39) N184Y probably damaging Het
Asz1 T C 6: 18,054,640 (GRCm39) I388V probably benign Het
Brpf1 C G 6: 113,292,002 (GRCm39) H349Q probably damaging Het
Cebpz T C 17: 79,242,028 (GRCm39) D542G probably damaging Het
Cfap44 T C 16: 44,252,501 (GRCm39) V870A probably damaging Het
Cnga1 T A 5: 72,762,003 (GRCm39) I504F probably damaging Het
Col4a3 G A 1: 82,640,627 (GRCm39) G315D unknown Het
Commd10 A G 18: 47,091,986 (GRCm39) E11G possibly damaging Het
Coq9 A C 8: 95,579,785 (GRCm39) N247H probably benign Het
Cort A T 4: 149,209,762 (GRCm39) C97S probably damaging Het
Dclre1b T C 3: 103,710,702 (GRCm39) D403G probably damaging Het
Efcab8 G A 2: 153,625,724 (GRCm39) G128E Het
Ercc5 T C 1: 44,217,494 (GRCm39) S946P possibly damaging Het
Fam221b C T 4: 43,665,514 (GRCm39) V315M probably damaging Het
Fam3c T C 6: 22,308,459 (GRCm39) K245E probably damaging Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gadd45g T C 13: 52,001,803 (GRCm39) S123P possibly damaging Het
Gm49368 A G 7: 127,684,818 (GRCm39) D396G possibly damaging Het
Gsto1 G A 19: 47,847,899 (GRCm39) R132K probably benign Het
Gtf3c2 T C 5: 31,327,217 (GRCm39) I327V possibly damaging Het
Hipk2 T C 6: 38,795,403 (GRCm39) K289E possibly damaging Het
Igkv4-80 G T 6: 68,993,621 (GRCm39) T90N probably benign Het
Ilrun C A 17: 27,986,917 (GRCm39) A270S probably benign Het
Madcam1 A T 10: 79,504,069 (GRCm39) probably null Het
Mgat1 T C 11: 49,152,770 (GRCm39) Y418H probably damaging Het
Myh10 T C 11: 68,681,070 (GRCm39) probably null Het
Notch4 C A 17: 34,797,064 (GRCm39) H937Q possibly damaging Het
Npas2 G T 1: 39,367,418 (GRCm39) C313F possibly damaging Het
Nup93 A G 8: 95,032,930 (GRCm39) M565V probably benign Het
Or10al3 C T 17: 38,012,326 (GRCm39) T255I probably damaging Het
Or1x6 T G 11: 50,938,967 (GRCm39) V11G probably benign Het
Or52a5 T A 7: 103,426,607 (GRCm39) H315L probably benign Het
Or56b2j T A 7: 104,353,635 (GRCm39) V287D probably damaging Het
Or6k4 G T 1: 173,964,273 (GRCm39) probably benign Het
Otop1 C T 5: 38,457,195 (GRCm39) T318I probably benign Het
Pcdhgb6 A G 18: 37,875,724 (GRCm39) E144G probably damaging Het
Plekha8 T C 6: 54,592,230 (GRCm39) L18P probably damaging Het
Ppp1r13b T C 12: 111,798,776 (GRCm39) D939G probably damaging Het
Prkag3 T A 1: 74,786,414 (GRCm39) Q177L probably benign Het
Rcor3 C A 1: 191,785,945 (GRCm39) S431I probably damaging Het
Scrib G A 15: 75,936,431 (GRCm39) T475I probably damaging Het
Serpinb1a T A 13: 33,027,033 (GRCm39) D303V probably damaging Het
Snrnp25 T A 11: 32,157,569 (GRCm39) V49E probably benign Het
Sobp A T 10: 42,897,163 (GRCm39) Y807* probably null Het
Spata31e4 T A 13: 50,856,900 (GRCm39) V846D probably benign Het
Srcap T C 7: 127,140,930 (GRCm39) V1570A probably benign Het
Srcin1 C T 11: 97,422,742 (GRCm39) V731M probably damaging Het
Syt2 A T 1: 134,675,330 (GRCm39) M394L possibly damaging Het
Tert T A 13: 73,797,074 (GRCm39) I1104N probably benign Het
Ttn T C 2: 76,621,439 (GRCm39) Y15667C probably damaging Het
Twnk A G 19: 44,996,277 (GRCm39) T237A probably benign Het
Zfp157 T A 5: 138,453,450 (GRCm39) probably null Het
Zfp503 C A 14: 22,035,074 (GRCm39) S614I probably damaging Het
Zswim8 T A 14: 20,758,072 (GRCm39) N52K possibly damaging Het
Other mutations in Tafa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1414:Tafa4 UTSW 6 96,991,440 (GRCm39) missense probably benign
R2427:Tafa4 UTSW 6 96,991,328 (GRCm39) splice site probably benign
R9497:Tafa4 UTSW 6 96,820,831 (GRCm39) missense possibly damaging 0.71
R9597:Tafa4 UTSW 6 96,991,429 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TTAGCCCTTTCAAAGTACTAGAGAG -3'
(R):5'- TCTAGAGGAGCCATCACTTTTC -3'

Sequencing Primer
(F):5'- AGATTGACTGGAAAGGTCTTACC -3'
(R):5'- GACAGCATGGAACTTGAG -3'
Posted On 2020-09-15