Incidental Mutation 'R6814:Tbx19'
ID 533988
Institutional Source Beutler Lab
Gene Symbol Tbx19
Ensembl Gene ENSMUSG00000026572
Gene Name T-box 19
Synonyms D1Ertd754e, Tpit
MMRRC Submission 044926-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R6814 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164965424-164988342 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 164975202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
AlphaFold Q99ME7
Predicted Effect probably null
Transcript: ENSMUST00000027859
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572

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 probably null
Transcript: ENSMUST00000161144
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572

DomainStartEndE-ValueType
TBOX 1 156 4.56e-80 SMART
Blast:TBOX 215 282 5e-19 BLAST
low complexity region 296 315 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (48/48)
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
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abca7 G A 10: 79,838,833 (GRCm39) V669I probably damaging Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Afap1l1 A T 18: 61,866,812 (GRCm39) V749E probably benign Het
Arfgef3 A G 10: 18,470,767 (GRCm39) L1666S probably damaging Het
Atp2b1 A G 10: 98,858,877 (GRCm39) N284D possibly damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Cit G A 5: 116,023,022 (GRCm39) C283Y probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Cspg4 A G 9: 56,797,624 (GRCm39) I1363V possibly damaging Het
D2hgdh C A 1: 93,763,025 (GRCm39) T270N possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Fam53a T C 5: 33,767,829 (GRCm39) Y27C probably benign Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nr1h4 T C 10: 89,290,607 (GRCm39) T474A probably damaging Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Pigq A T 17: 26,150,630 (GRCm39) probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Slc24a3 C T 2: 145,458,630 (GRCm39) Q537* probably null Het
Slc34a1 T C 13: 24,006,372 (GRCm39) I466T possibly damaging Het
Slc7a10 T C 7: 34,894,689 (GRCm39) V116A probably damaging Het
Taf15 T A 11: 83,389,915 (GRCm39) N228K probably damaging Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp189 A T 4: 49,529,026 (GRCm39) N43I probably damaging Het
Zfp36l2 A G 17: 84,493,521 (GRCm39) probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GATGATAAAATACTGCGGGCTG -3'
(R):5'- ACTAGTCAAGTGCAGCAGTGAG -3'

Sequencing Primer
(F):5'- TTGCGGGCTCTCCTGGAC -3'
(R):5'- CAGTGAGCAACGAGACATGTG -3'
Posted On 2018-09-12