Incidental Mutation 'IGL02926:Tac1'
ID363865
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? Probably non essential (E-score: 0.163) question?
Stock #IGL02926
Quality Score
Status
Chromosome6
Chromosomal Location7554879-7565834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7562410 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 106 (N106I)
Ref Sequence ENSEMBL: ENSMUSP00000088175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090679] [ENSMUST00000184986] [ENSMUST00000185130] [ENSMUST00000185187]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090679
AA Change: N106I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088175
Gene: ENSMUSG00000061762
AA Change: N106I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 97 107 1.36e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184481
Predicted Effect possibly damaging
Transcript: ENSMUST00000184986
AA Change: N109I

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138818
Gene: ENSMUSG00000061762
AA Change: N109I

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: N124I

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139347
Gene: ENSMUSG00000061762
AA Change: N124I

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Tac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Tac1 APN 6 7559119 unclassified probably null
IGL02830:Tac1 APN 6 7555650 missense probably benign 0.00
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