Incidental Mutation 'IGL02342:Tac1'
ID289152
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: 0.170) question?
Stock #IGL02342
Quality Score
Status
Chromosome6
Chromosomal Location7554879-7565834 bp(+) (GRCm38)
Type of Mutationunclassified (5 bp from exon)
DNA Base Change (assembly) G to T at 7559119 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090679] [ENSMUST00000184986] [ENSMUST00000185130] [ENSMUST00000185187]
Predicted Effect probably benign
Transcript: ENSMUST00000090679
SMART Domains Protein: ENSMUSP00000088175
Gene: ENSMUSG00000061762

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: V89F

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138818
Gene: ENSMUSG00000061762
AA Change: V89F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 82 92 1.36e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185130
Predicted Effect probably damaging
Transcript: ENSMUST00000185187
AA Change: V104F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139347
Gene: ENSMUSG00000061762
AA Change: V104F

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,175,001 P97Q probably damaging Het
Abcb10 A T 8: 123,962,034 V501E probably damaging Het
Acsf3 T C 8: 122,817,498 Y572H probably benign Het
Adamts3 A T 5: 89,691,473 probably null Het
Alox8 A G 11: 69,186,227 L480P probably damaging Het
Arhgap35 G A 7: 16,562,380 T920I probably benign Het
Brca2 C A 5: 150,542,824 L2018M possibly damaging Het
Brdt C A 5: 107,342,203 H45N probably damaging Het
C1s2 A G 6: 124,632,116 F155L probably damaging Het
Ccser2 A G 14: 36,918,605 probably benign Het
Cd8a T A 6: 71,373,739 C63S probably damaging Het
Clk2 A T 3: 89,175,691 T424S probably benign Het
Cntn1 A G 15: 92,246,017 E287G probably benign Het
Cobl A C 11: 12,253,672 V928G possibly damaging Het
Col12a1 A G 9: 79,649,896 probably null Het
Crnkl1 A T 2: 145,924,713 probably null Het
Defb26 T C 2: 152,508,201 N53S possibly damaging Het
Duox1 A T 2: 122,347,312 T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 L1233P probably damaging Het
Eif5a2 A G 3: 28,793,761 E116G possibly damaging Het
Fam208a T A 14: 27,476,667 S1319T possibly damaging Het
Fam71f1 A G 6: 29,323,830 T185A possibly damaging Het
Gdap2 G A 3: 100,178,316 A185T probably damaging Het
Grm8 T C 6: 27,363,804 R571G probably benign Het
Hfe2 G A 3: 96,528,172 D249N possibly damaging Het
Hsp90b1 T C 10: 86,695,739 probably null Het
Ighv1-75 T G 12: 115,834,258 probably benign Het
Ikzf1 A G 11: 11,700,216 probably benign Het
Kdm4d A G 9: 14,463,564 W333R probably damaging Het
Lama3 A T 18: 12,491,476 N1426I probably damaging Het
Lmbrd1 A G 1: 24,704,878 Y119C probably damaging Het
Mctp1 A G 13: 77,024,857 Y884C probably damaging Het
Naip6 G T 13: 100,303,240 P340T possibly damaging Het
Nfkbib G T 7: 28,762,103 H70N probably damaging Het
Nol4 A T 18: 22,770,869 probably benign Het
Obscn C T 11: 59,001,088 A6873T probably benign Het
Olfr66 T A 7: 103,881,380 I288F probably benign Het
Olfr705 A G 7: 106,714,025 S219P probably benign Het
Olfr986 T A 9: 40,187,527 N137K probably benign Het
Paqr6 A G 3: 88,366,184 Y136C probably damaging Het
Pcdh18 T A 3: 49,756,044 D274V probably damaging Het
Phip A G 9: 82,886,692 Y1196H probably damaging Het
Prc1 T C 7: 80,309,442 L345S probably damaging Het
Smpdl3a A G 10: 57,809,180 probably benign Het
Ssfa2 A G 2: 79,660,285 N943S probably benign Het
Tg A G 15: 66,764,291 T576A probably benign Het
Thbs2 A T 17: 14,676,316 D770E probably damaging Het
Tmem117 T C 15: 95,011,450 V248A possibly damaging Het
Trpm8 T C 1: 88,328,250 I209T possibly damaging Het
Ttc30a1 G T 2: 75,980,632 T369K probably benign Het
Wrap53 A G 11: 69,563,591 F244L probably damaging Het
Wrap73 A T 4: 154,148,780 Q137L probably benign Het
Zfhx4 A T 3: 5,402,374 T2531S probably benign Het
Other mutations in Tac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02830:Tac1 APN 6 7555650 missense probably benign 0.00
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 On2015-04-16