Incidental Mutation 'IGL02342:Tac1'
ID 289152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tac1
Ensembl Gene ENSMUSG00000061762
Gene Name tachykinin 1
Synonyms 4930528L02Rik, SP, Nkna, NK-1, PPTA, neurokinin 1, substance P, NK1, PPT-A, preprotachykinin A, neurokinin A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL02342
Quality Score
Status
Chromosome 6
Chromosomal Location 7555061-7562978 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 7559119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090679] [ENSMUST00000184986] [ENSMUST00000185130] [ENSMUST00000185187]
AlphaFold P41539
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: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Crnkl1 A T 2: 145,766,633 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hjv G A 3: 96,435,488 (GRCm39) D249N possibly damaging Het
Hsp90b1 T C 10: 86,531,603 (GRCm39) probably null Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or51b4 T A 7: 103,530,587 (GRCm39) I288F probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Phip A G 9: 82,768,745 (GRCm39) Y1196H probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Tac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02830:Tac1 APN 6 7,555,650 (GRCm39) missense probably benign 0.00
IGL02926:Tac1 APN 6 7,562,410 (GRCm39) missense possibly damaging 0.95
R0189:Tac1 UTSW 6 7,562,424 (GRCm39) missense probably damaging 1.00
R0265:Tac1 UTSW 6 7,559,165 (GRCm39) splice site probably benign
R0612:Tac1 UTSW 6 7,555,653 (GRCm39) missense probably damaging 1.00
R2910:Tac1 UTSW 6 7,559,097 (GRCm39) critical splice acceptor site probably null
R2911:Tac1 UTSW 6 7,559,097 (GRCm39) critical splice acceptor site probably null
R4547:Tac1 UTSW 6 7,557,216 (GRCm39) missense probably damaging 1.00
R9005:Tac1 UTSW 6 7,559,141 (GRCm39) missense possibly damaging 0.87
R9666:Tac1 UTSW 6 7,555,675 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16