Incidental Mutation 'IGL02830:Tac1'
ID361374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tac1
Ensembl Gene ENSMUSG00000061762
Gene Nametachykinin 1
SynonymsNkna, preprotachykinin A, PPT-A, PPTA, 4930528L02Rik, NK1, neurokinin A, neurokinin 1, substance P, SP, NK-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.257) question?
Stock #IGL02830
Quality Score
Status
Chromosome6
Chromosomal Location7554879-7565834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 7555650 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 13 (V13I)
Ref Sequence ENSEMBL: ENSMUSP00000088175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090679] [ENSMUST00000184986] [ENSMUST00000185130] [ENSMUST00000185187]
Predicted Effect probably benign
Transcript: ENSMUST00000090679
AA Change: V13I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088175
Gene: ENSMUSG00000061762
AA Change: V13I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 97 107 1.36e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184986
AA Change: V13I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138818
Gene: ENSMUSG00000061762
AA Change: V13I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 82 92 1.36e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185130
Predicted Effect probably benign
Transcript: ENSMUST00000185187
AA Change: V13I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139347
Gene: ENSMUSG00000061762
AA Change: V13I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 97 107 1.36e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absence of agonist-induced hyperalgesia and an impaired response to chemical irritation of the urinary tract. Mice homozygous for a different knock-out allele display hypoalgesia, and reduced anxiety- and depression-related behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,037,426 E67D possibly damaging Het
9530053A07Rik C A 7: 28,162,923 H2471Q probably damaging Het
Acad11 T A 9: 104,075,919 F116I probably damaging Het
Acox2 G A 14: 8,255,298 T160I probably damaging Het
Anxa7 A T 14: 20,456,540 M444K possibly damaging Het
Atg2a A G 19: 6,247,681 D423G probably benign Het
Cela3a T C 4: 137,401,635 N282S probably benign Het
Cyp2c50 G A 19: 40,098,056 V296I probably benign Het
Fgd3 A G 13: 49,264,631 probably benign Het
Gimap8 G A 6: 48,656,305 A353T probably benign Het
Grin3a T A 4: 49,702,787 M900L possibly damaging Het
H1f0 T G 15: 79,029,311 probably benign Het
Heatr1 T C 13: 12,426,212 V1456A possibly damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 S157T possibly damaging Het
Kif19a C T 11: 114,781,208 T207M probably damaging Het
Klc1 T C 12: 111,776,907 Y223H probably damaging Het
Klhl33 C T 14: 50,891,757 V672M probably damaging Het
Lrrc49 G A 9: 60,685,110 L34F probably damaging Het
Nalcn C T 14: 123,293,469 V1386I probably damaging Het
Olfr142 A T 2: 90,252,781 I69N probably damaging Het
Olfr201 A G 16: 59,269,053 S205P possibly damaging Het
Olfr292 T G 7: 86,695,174 C239W probably damaging Het
Olfr65 C T 7: 103,906,444 P2S probably benign Het
Orc5 A T 5: 22,529,267 L173Q probably damaging Het
Otud4 T G 8: 79,673,301 D880E probably benign Het
Pde12 T C 14: 26,668,585 Y323C probably damaging Het
Pde8b G T 13: 95,052,901 D198E probably benign Het
Prom2 T A 2: 127,535,069 I542F possibly damaging Het
Ptprj G A 2: 90,453,144 T952I probably benign Het
Ribc2 T A 15: 85,132,257 probably benign Het
Sec31b C T 19: 44,531,703 R214K probably damaging Het
Senp5 G A 16: 31,983,485 probably benign Het
Sh3pxd2a G A 19: 47,283,078 R249W probably damaging Het
Sorcs3 G A 19: 48,723,002 probably null Het
Spata31d1c A G 13: 65,035,366 T241A probably benign Het
Tnnc2 T A 2: 164,777,510 D138V probably null Het
Tspan32 T A 7: 143,017,592 M159K possibly damaging Het
Tsta3 C T 15: 75,925,588 V275I probably benign Het
Ttc28 A T 5: 111,286,239 T2380S probably benign Het
Ubc T A 5: 125,387,313 I317F probably damaging Het
Usp24 T C 4: 106,347,387 S268P possibly damaging Het
Vmn2r91 C A 17: 18,136,622 H850Q probably benign Het
Xrn1 T C 9: 96,018,181 probably null Het
Zfp329 A C 7: 12,810,116 C494G probably damaging Het
Zfp54 T C 17: 21,433,456 S71P probably damaging Het
Other mutations in Tac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Tac1 APN 6 7559119 unclassified probably null
IGL02926:Tac1 APN 6 7562410 missense possibly damaging 0.95
R0189:Tac1 UTSW 6 7562424 missense probably damaging 1.00
R0265:Tac1 UTSW 6 7559165 splice site probably benign
R0612:Tac1 UTSW 6 7555653 missense probably damaging 1.00
R2910:Tac1 UTSW 6 7559097 critical splice acceptor site probably null
R2911:Tac1 UTSW 6 7559097 critical splice acceptor site probably null
R4547:Tac1 UTSW 6 7557216 missense probably damaging 1.00
Posted On2015-12-18