Incidental Mutation 'R6822:Tbx19'
ID 537657
Institutional Source Beutler Lab
Gene Symbol Tbx19
Ensembl Gene ENSMUSG00000026572
Gene Name T-box 19
Synonyms D1Ertd754e, Tpit
MMRRC Submission 044934-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R6822 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164965424-164988342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 164967709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 346 (P346Q)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
AlphaFold Q99ME7
Predicted Effect probably damaging
Transcript: ENSMUST00000027859
AA Change: P346Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: P346Q

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
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: P217Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
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
Adam11 G A 11: 102,667,501 (GRCm39) R687Q possibly damaging Het
AI987944 A G 7: 41,024,232 (GRCm39) L249P probably damaging Het
Ankrd28 T A 14: 31,458,797 (GRCm39) probably null Het
Bahcc1 T C 11: 120,178,547 (GRCm39) S2369P probably damaging Het
Birc6 T C 17: 74,887,377 (GRCm39) S902P possibly damaging Het
Birc6 A T 17: 74,905,039 (GRCm39) K1277N probably damaging Het
Brwd1 T C 16: 95,842,474 (GRCm39) E821G probably benign Het
Cct8l1 T C 5: 25,722,937 (GRCm39) S551P possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cyp2c39 A T 19: 39,525,261 (GRCm39) D188V probably damaging Het
Dclk3 G T 9: 111,268,405 (GRCm39) A25S probably benign Het
Dpep2 A T 8: 106,711,873 (GRCm39) M518K probably benign Het
Dst T C 1: 34,314,755 (GRCm39) V6462A probably damaging Het
Entpd3 T C 9: 120,391,104 (GRCm39) probably null Het
Epm2aip1 T C 9: 111,101,624 (GRCm39) V199A probably damaging Het
Fam193b A G 13: 55,689,504 (GRCm39) probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fcgbp T A 7: 27,806,781 (GRCm39) Y2250N probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
H2-Aa C T 17: 34,506,651 (GRCm39) probably null Het
Igsf9 T A 1: 172,324,730 (GRCm39) S883T possibly damaging Het
Kcnh7 T G 2: 62,618,248 (GRCm39) I414L probably damaging Het
Kcnma1 T C 14: 24,053,812 (GRCm39) probably null Het
Kcnmb1 T C 11: 33,914,686 (GRCm39) probably benign Het
Kmt2d A G 15: 98,747,340 (GRCm39) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Map3k13 G A 16: 21,741,013 (GRCm39) S780N probably benign Het
Nlgn1 T C 3: 26,187,796 (GRCm39) T30A probably benign Het
Nucb1 A G 7: 45,148,289 (GRCm39) F175L probably damaging Het
Pax6 T A 2: 105,516,268 (GRCm39) V182E probably benign Het
Ptger1 A G 8: 84,395,279 (GRCm39) D252G probably benign Het
Rexo4 T C 2: 26,850,283 (GRCm39) D275G probably damaging Het
Ripk4 T C 16: 97,547,236 (GRCm39) D342G probably damaging Het
Rpl10l A T 12: 66,330,987 (GRCm39) C49S possibly damaging Het
Sema7a T C 9: 57,867,619 (GRCm39) F457S probably damaging Het
Shank3 G A 15: 89,415,830 (GRCm39) D155N probably damaging Het
Smpd3 G A 8: 106,992,596 (GRCm39) probably benign Het
Smpd4 T C 16: 17,458,097 (GRCm39) V465A probably damaging Het
Sohlh2 T C 3: 55,115,107 (GRCm39) V364A probably damaging Het
Sos2 C T 12: 69,697,423 (GRCm39) R99Q probably damaging Het
Spry2 G A 14: 106,130,791 (GRCm39) Q132* probably null Het
Tdrd6 A G 17: 43,938,106 (GRCm39) Y981H probably damaging Het
Tinag T C 9: 76,938,984 (GRCm39) K165E probably benign Het
Tubb4a A T 17: 57,387,904 (GRCm39) I374N probably damaging Het
Umodl1 C T 17: 31,205,528 (GRCm39) Q708* probably null Het
Vmn2r3 A T 3: 64,194,876 (GRCm39) V14E probably benign Het
Zfp82 G A 7: 29,755,712 (GRCm39) L457F 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
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
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'- GGGCCAATTACATCAGTGTTCC -3'
(R):5'- AAAGTCACTGGCTGCTGTC -3'

Sequencing Primer
(F):5'- GCTTATTGCTAAACAGGGAATTGTCC -3'
(R):5'- AAAGTCACTGGCTGCTGTCTTTAC -3'
Posted On 2018-10-18