Incidental Mutation 'IGL01545:Tbx19'
ID90316
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: 0.921) question?
Stock #IGL01545
Quality Score
Status
Chromosome1
Chromosomal Location165137855-165160773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 165139156 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 383 (N383I)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027859
AA Change: N383I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: N383I

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: N254I
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: N254I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Atp6v1h T A 1: 5,089,059 M55K probably benign Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Dusp2 A G 2: 127,337,775 T313A probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Myod1 A T 7: 46,377,115 E148V probably damaging Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd1 T A 5: 145,159,536 H249L probably damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Rad21l A T 2: 151,655,164 D340E probably benign Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R 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
IGL01893:Tbx19 APN 1 165140198 missense possibly damaging 0.93
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
Posted On2013-12-03