Incidental Mutation 'IGL01893:Tbx19'
ID179298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx19
Ensembl Gene ENSMUSG00000026572
Gene NameT-box 19
SynonymsTpit, D1Ertd754e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.927) question?
Stock #IGL01893
Quality Score
Status
Chromosome1
Chromosomal Location165137855-165160773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 165140198 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 327 (S327T)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
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: 116,788,549 I275F probably damaging Het
Avil G A 10: 127,020,546 E815K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Car9 T A 4: 43,510,252 I278N probably damaging Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Edrf1 T C 7: 133,657,102 F770L probably benign Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mettl16 A T 11: 74,805,271 T273S possibly damaging Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Themis3 A G 17: 66,559,627 L206P possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging Het
Other mutations in Tbx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tbx19 APN 1 165160399 missense probably benign 0.05
IGL00849:Tbx19 APN 1 165152040 missense probably benign 0.08
IGL01545:Tbx19 APN 1 165139156 missense possibly damaging 0.77
IGL02451:Tbx19 APN 1 165140171 missense probably benign 0.03
IGL02514:Tbx19 APN 1 165153704 missense probably benign 0.15
R0009:Tbx19 UTSW 1 165160520 missense possibly damaging 0.93
R0009:Tbx19 UTSW 1 165160520 missense possibly damaging 0.93
R1600:Tbx19 UTSW 1 165142567 missense possibly damaging 0.52
R4605:Tbx19 UTSW 1 165153584 missense possibly damaging 0.87
R5410:Tbx19 UTSW 1 165160372 missense probably damaging 0.99
R5441:Tbx19 UTSW 1 165153680 missense probably damaging 0.99
R6814:Tbx19 UTSW 1 165147633 critical splice donor site probably null
R6822:Tbx19 UTSW 1 165140140 missense probably damaging 0.98
R6872:Tbx19 UTSW 1 165147633 critical splice donor site probably null
R7078:Tbx19 UTSW 1 165160566 start gained probably benign
R7711:Tbx19 UTSW 1 165139199 missense probably benign
Z1176:Tbx19 UTSW 1 165142507 missense probably damaging 0.99
Z1177:Tbx19 UTSW 1 165142574 missense probably benign 0.01
Posted On2014-05-07