Incidental Mutation 'IGL02451:Tbx19'
ID 293640
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 # IGL02451
Quality Score
Status
Chromosome 1
Chromosomal Location 164965424-164988342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164967740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 336 (S336P)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
AlphaFold Q99ME7
Predicted Effect probably benign
Transcript: ENSMUST00000027859
AA Change: S336P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S336P

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: S207P
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: S207P

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
1700123K08Rik T G 5: 138,561,809 (GRCm39) T126P probably damaging Het
Asic2 T C 11: 80,782,563 (GRCm39) probably benign Het
B430305J03Rik A G 3: 61,271,562 (GRCm39) probably benign Het
Bbs7 A G 3: 36,664,741 (GRCm39) F47L possibly damaging Het
Bcl2l14 G T 6: 134,400,804 (GRCm39) G75V probably benign Het
Btnl4 T C 17: 34,694,901 (GRCm39) H4R probably benign Het
Champ1 C A 8: 13,928,739 (GRCm39) P299Q probably damaging Het
Cimap3 T A 3: 105,921,820 (GRCm39) E34D probably benign Het
Cldnd2 A G 7: 43,091,082 (GRCm39) K5E probably benign Het
Ctr9 T A 7: 110,642,631 (GRCm39) L401* probably null Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Enpp4 A T 17: 44,412,315 (GRCm39) L298H probably damaging Het
Git1 T C 11: 77,391,513 (GRCm39) C222R possibly damaging Het
Gpam T C 19: 55,076,635 (GRCm39) T189A probably damaging Het
Hgfac T G 5: 35,201,158 (GRCm39) probably null Het
Hivep3 T A 4: 119,991,162 (GRCm39) S2221T probably damaging Het
Ifi47 T C 11: 48,986,604 (GRCm39) Y124H probably damaging Het
Il1a T C 2: 129,148,575 (GRCm39) E45G probably damaging Het
Itga11 T A 9: 62,642,635 (GRCm39) I186N probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Mapk13 A G 17: 28,995,387 (GRCm39) T203A probably damaging Het
Mrpl37 T A 4: 106,923,839 (GRCm39) I52F probably damaging Het
Mtrex C T 13: 113,027,881 (GRCm39) V660M probably damaging Het
Nr1i2 A G 16: 38,069,654 (GRCm39) F417L probably benign Het
Or10ag59 T A 2: 87,405,576 (GRCm39) S49R probably benign Het
Or6c215 G A 10: 129,637,702 (GRCm39) Q231* probably null Het
Osbpl1a T C 18: 13,047,550 (GRCm39) probably benign Het
Parg C T 14: 31,964,186 (GRCm39) T112M probably damaging Het
Pou6f1 T C 15: 100,477,821 (GRCm39) T166A possibly damaging Het
Prtg A G 9: 72,764,281 (GRCm39) I585V possibly damaging Het
Ptpru T G 4: 131,504,086 (GRCm39) probably benign Het
Rab6a T C 7: 100,285,970 (GRCm39) probably null Het
Rnf207 C T 4: 152,396,869 (GRCm39) R425H probably benign Het
Rusf1 A G 7: 127,875,582 (GRCm39) L257P probably damaging Het
Slc27a2 A G 2: 126,420,912 (GRCm39) M468V probably benign Het
Slc30a1 A G 1: 191,639,441 (GRCm39) H108R possibly damaging Het
Sned1 A G 1: 93,163,930 (GRCm39) probably benign Het
Sptbn4 A T 7: 27,065,014 (GRCm39) F2095Y probably null Het
Sspo A T 6: 48,437,237 (GRCm39) probably benign Het
Tmem101 T A 11: 102,044,119 (GRCm39) D256V probably damaging Het
Trbv20 T G 6: 41,165,210 (GRCm39) L2V unknown Het
Trpc7 A G 13: 56,970,274 (GRCm39) S382P probably damaging Het
Tut4 C A 4: 108,386,473 (GRCm39) Y1114* probably null Het
Uhmk1 T C 1: 170,040,095 (GRCm39) T91A possibly damaging Het
Vmn2r10 T A 5: 109,143,788 (GRCm39) R721* probably null Het
Vmn2r94 T A 17: 18,478,453 (GRCm39) Y98F possibly damaging Het
Zfp532 A G 18: 65,756,672 (GRCm39) R202G probably damaging Het
Zfp827 T C 8: 79,787,601 (GRCm39) S256P probably damaging Het
Zzef1 T C 11: 72,792,214 (GRCm39) I2266T 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
IGL01893:Tbx19 APN 1 164,967,767 (GRCm39) missense possibly damaging 0.93
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 2015-04-16