Incidental Mutation 'IGL01893:Tbx19'
ID 179298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx19
Ensembl Gene ENSMUSG00000026572
Gene Name T-box 19
Synonyms D1Ertd754e, Tpit
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # IGL01893
Quality Score
Status
Chromosome 1
Chromosomal Location 164965424-164988342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164967767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 327 (S327T)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
AlphaFold Q99ME7
Predicted Effect possibly damaging
Transcript: ENSMUST00000027859
AA Change: S327T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S327T

DomainStartEndE-ValueType
TBOX 38 221 1.26e-114 SMART
low complexity region 263 275 N/A INTRINSIC
Blast:TBOX 343 410 2e-18 BLAST
low complexity region 424 443 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160350
Predicted Effect unknown
Transcript: ENSMUST00000161144
AA Change: S198T
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: S198T

DomainStartEndE-ValueType
TBOX 1 156 4.56e-80 SMART
Blast:TBOX 215 282 5e-19 BLAST
low complexity region 296 315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161777
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a family of transcription factors containing a characteristic T-box DNA-binding domain. The encoded protein promotes expression of the pro-opiomelanocortin (POMC) gene, which is important for the differentiation of cells in the pituitary gland. [provided by RefSeq, Mar 2013]
PHENOTYPE: The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cast T A 13: 74,875,408 (GRCm39) K480* probably null Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Drosha T C 15: 12,866,736 (GRCm39) probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Lsr A T 7: 30,661,657 (GRCm39) V210E possibly damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mettl16 A T 11: 74,696,097 (GRCm39) T273S possibly damaging Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Orc6 A G 8: 86,034,272 (GRCm39) D165G probably damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G probably damaging Het
Other mutations in Tbx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tbx19 APN 1 164,987,968 (GRCm39) missense probably benign 0.05
IGL00849:Tbx19 APN 1 164,979,609 (GRCm39) missense probably benign 0.08
IGL01545:Tbx19 APN 1 164,966,725 (GRCm39) missense possibly damaging 0.77
IGL02451:Tbx19 APN 1 164,967,740 (GRCm39) missense probably benign 0.03
IGL02514:Tbx19 APN 1 164,981,273 (GRCm39) missense probably benign 0.15
G1citation:Tbx19 UTSW 1 164,967,709 (GRCm39) missense probably damaging 0.98
R0009:Tbx19 UTSW 1 164,988,089 (GRCm39) missense possibly damaging 0.93
R0009:Tbx19 UTSW 1 164,988,089 (GRCm39) missense possibly damaging 0.93
R1600:Tbx19 UTSW 1 164,970,136 (GRCm39) missense possibly damaging 0.52
R4605:Tbx19 UTSW 1 164,981,153 (GRCm39) missense possibly damaging 0.87
R5410:Tbx19 UTSW 1 164,987,941 (GRCm39) missense probably damaging 0.99
R5441:Tbx19 UTSW 1 164,981,249 (GRCm39) missense probably damaging 0.99
R6814:Tbx19 UTSW 1 164,975,202 (GRCm39) critical splice donor site probably null
R6822:Tbx19 UTSW 1 164,967,709 (GRCm39) missense probably damaging 0.98
R6872:Tbx19 UTSW 1 164,975,202 (GRCm39) critical splice donor site probably null
R7078:Tbx19 UTSW 1 164,988,135 (GRCm39) start gained probably benign
R7711:Tbx19 UTSW 1 164,966,768 (GRCm39) missense probably benign
R8882:Tbx19 UTSW 1 164,966,780 (GRCm39) missense probably benign 0.41
R9222:Tbx19 UTSW 1 164,966,609 (GRCm39) missense probably benign 0.01
R9448:Tbx19 UTSW 1 164,981,090 (GRCm39) missense probably damaging 1.00
R9495:Tbx19 UTSW 1 164,966,546 (GRCm39) missense unknown
R9514:Tbx19 UTSW 1 164,966,546 (GRCm39) missense unknown
R9680:Tbx19 UTSW 1 164,970,067 (GRCm39) missense probably damaging 0.99
Z1176:Tbx19 UTSW 1 164,970,076 (GRCm39) missense probably damaging 0.99
Z1177:Tbx19 UTSW 1 164,970,143 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07