Incidental Mutation 'R0305:Tafa5'
ID 24929
Institutional Source Beutler Lab
Gene Symbol Tafa5
Ensembl Gene ENSMUSG00000054863
Gene Name TAFA chemokine like family member 5
Synonyms Tara-5, Fam19a5
MMRRC Submission 038516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0305 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 87428500-87643565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87604709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 83 (I83N)
Ref Sequence ENSEMBL: ENSMUSP00000064808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068088] [ENSMUST00000230414]
AlphaFold Q91WE9
Predicted Effect probably damaging
Transcript: ENSMUST00000068088
AA Change: I83N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064808
Gene: ENSMUSG00000054863
AA Change: I83N

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 35 124 1.1e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230414
AA Change: I90N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6190 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency 100% (59/59)
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,061 (GRCm39) R183Q probably damaging Het
Abca5 A G 11: 110,164,137 (GRCm39) probably benign Het
Ada T C 2: 163,570,077 (GRCm39) K312R probably benign Het
Adam21 C A 12: 81,607,059 (GRCm39) K234N possibly damaging Het
Afdn T A 17: 14,108,776 (GRCm39) probably null Het
Aimp1 T G 3: 132,379,747 (GRCm39) K132Q possibly damaging Het
Aldh16a1 C T 7: 44,797,403 (GRCm39) R135Q probably damaging Het
Alox12b A T 11: 69,058,205 (GRCm39) Y519F probably benign Het
Alppl2 T C 1: 87,017,324 (GRCm39) E25G probably benign Het
Apob A T 12: 8,062,210 (GRCm39) N3531I probably damaging Het
Arhgap23 T C 11: 97,391,935 (GRCm39) L321P probably damaging Het
Cab39l C T 14: 59,757,028 (GRCm39) Q137* probably null Het
Cenpo A T 12: 4,266,660 (GRCm39) H149Q possibly damaging Het
Cpt1a A G 19: 3,428,455 (GRCm39) T610A probably benign Het
Dcbld2 A G 16: 58,269,302 (GRCm39) T271A probably damaging Het
Dcps A G 9: 35,087,065 (GRCm39) probably null Het
Dnai2 A G 11: 114,643,720 (GRCm39) D462G probably benign Het
Dsg2 T A 18: 20,715,752 (GRCm39) probably benign Het
Eomes A T 9: 118,313,825 (GRCm39) E623D probably benign Het
Fras1 A T 5: 96,744,747 (GRCm39) H594L probably benign Het
Gad1-ps T G 10: 99,280,665 (GRCm39) noncoding transcript Het
Galk2 A G 2: 125,729,808 (GRCm39) Y63C probably damaging Het
H2-T10 A G 17: 36,430,260 (GRCm39) L227P probably damaging Het
Itgb4 T G 11: 115,870,238 (GRCm39) C73G probably damaging Het
Itpr2 T C 6: 146,212,601 (GRCm39) H1472R possibly damaging Het
Kcnh5 C T 12: 75,161,171 (GRCm39) A246T probably benign Het
Kpna6 G T 4: 129,543,042 (GRCm39) R458S probably benign Het
Lifr A G 15: 7,206,982 (GRCm39) T498A probably damaging Het
Lrrd1 T G 5: 3,915,707 (GRCm39) I768S probably damaging Het
Map2 T C 1: 66,452,253 (GRCm39) V223A probably benign Het
Nod2 G A 8: 89,391,951 (GRCm39) A731T probably damaging Het
Nrxn2 G A 19: 6,569,313 (GRCm39) C1403Y probably damaging Het
Nxph1 A T 6: 9,247,754 (GRCm39) I242F probably damaging Het
Or5p79 G A 7: 108,221,792 (GRCm39) V258I probably benign Het
Pgr A G 9: 8,902,088 (GRCm39) probably benign Het
Pik3cb A G 9: 98,946,129 (GRCm39) S566P possibly damaging Het
Sema4d T C 13: 51,866,764 (GRCm39) Y242C probably damaging Het
Sftpc T A 14: 70,761,518 (GRCm39) probably benign Het
Sh3tc1 T G 5: 35,881,343 (GRCm39) E33D probably benign Het
Slc17a5 A G 9: 78,464,819 (GRCm39) L344P probably benign Het
Slc39a5 T A 10: 128,234,265 (GRCm39) probably benign Het
Slc7a13 C A 4: 19,839,401 (GRCm39) H335N probably benign Het
Slco1a4 A C 6: 141,763,479 (GRCm39) N412K possibly damaging Het
Sox1 A T 8: 12,446,736 (GRCm39) T126S probably damaging Het
Specc1l T A 10: 75,081,663 (GRCm39) V353E probably damaging Het
Stat5b T C 11: 100,693,329 (GRCm39) E104G probably benign Het
Sult4a1 A G 15: 83,970,868 (GRCm39) V179A probably damaging Het
Tbl3 G A 17: 24,924,435 (GRCm39) R134C probably damaging Het
Tmem256 T A 11: 69,729,737 (GRCm39) probably benign Het
Tmigd1 A G 11: 76,797,960 (GRCm39) T101A probably damaging Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Unc79 T A 12: 103,079,459 (GRCm39) S1679T probably benign Het
Vmn2r1 T G 3: 63,997,087 (GRCm39) C248G probably damaging Het
Vmn2r57 T C 7: 41,076,967 (GRCm39) I400V probably benign Het
Vwa8 T A 14: 79,246,713 (GRCm39) L685H probably damaging Het
Yeats4 A G 10: 117,051,741 (GRCm39) F172S probably damaging Het
Zfpm2 T G 15: 40,637,431 (GRCm39) probably benign Het
Other mutations in Tafa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0227:Tafa5 UTSW 15 87,604,691 (GRCm39) splice site probably benign
R1405:Tafa5 UTSW 15 87,565,678 (GRCm39) splice site probably benign
R4646:Tafa5 UTSW 15 87,604,783 (GRCm39) missense probably damaging 0.99
R4647:Tafa5 UTSW 15 87,604,783 (GRCm39) missense probably damaging 0.99
R4841:Tafa5 UTSW 15 87,509,637 (GRCm39) intron probably benign
R9147:Tafa5 UTSW 15 87,428,775 (GRCm39) missense probably benign 0.05
R9148:Tafa5 UTSW 15 87,428,775 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGGGGACCAATGATTCTACACCCAG -3'
(R):5'- GATTCGGAACAGGCTCTCTGACAC -3'

Sequencing Primer
(F):5'- AGCATCCATTGGGAATGCCTC -3'
(R):5'- CTGACACTTATTCACAGAGAGTGAGG -3'
Posted On 2013-04-16