Mutagenetix > Incidental Mutation

Incidental Mutation 'R9680:Tbx19'

728453

Institutional Source

Beutler Lab

Gene Symbol

Tbx19

Ensembl Gene

ENSMUSG00000026572

Gene Name

T-box 19

Synonyms

D1Ertd754e, Tpit

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R9680 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164965424-164988342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164970067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 274 (H274L)

Ref Sequence

ENSEMBL: ENSMUSP00000027859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027859]

AlphaFold

Q99ME7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027859
AA Change: H274L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: H274L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000161144

SMART Domains

Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,208,239 (GRCm39)	Y502N	probably damaging	Het
Adam6a	T	A	12: 113,509,484 (GRCm39)	L619*	probably null	Het
Akap9	A	T	5: 4,011,587 (GRCm39)	R763S	probably benign	Het
Akt3	G	A	1: 176,958,639 (GRCm39)	P24S	probably damaging	Het
Ano2	A	T	6: 125,857,382 (GRCm39)		probably null	Het
B4galnt4	G	A	7: 140,647,957 (GRCm39)	R491Q	possibly damaging	Het
Bahcc1	A	G	11: 120,163,286 (GRCm39)	D528G	possibly damaging	Het
Camk1g	G	T	1: 193,030,483 (GRCm39)	Q409K	probably benign	Het
Cdh3	T	A	8: 107,274,396 (GRCm39)	N638K	probably benign	Het
Cgnl1	T	A	9: 71,562,632 (GRCm39)	E882D	possibly damaging	Het
Cplane1	A	G	15: 8,231,785 (GRCm39)	N1077S	possibly damaging	Het
Cpxm2	C	T	7: 131,661,651 (GRCm39)	E379K	probably damaging	Het
Cyp3a16	A	G	5: 145,389,690 (GRCm39)	L225P	probably damaging	Het
Dchs1	T	C	7: 105,411,625 (GRCm39)	E1497G	probably damaging	Het
Denr	T	A	5: 124,065,117 (GRCm39)	S157T	possibly damaging	Het
Disp3	A	G	4: 148,356,101 (GRCm39)	I253T	probably damaging	Het
Dlgap2	C	T	8: 14,896,653 (GRCm39)	T1043M	probably damaging	Het
Epb41l5	T	C	1: 119,535,804 (GRCm39)	T355A	probably damaging	Het
Etv6	G	A	6: 134,013,062 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,310,484 (GRCm39)	I141V	probably benign	Het
Fsip2	T	G	2: 82,819,272 (GRCm39)	S5002A	probably benign	Het
Gbf1	T	G	19: 46,271,837 (GRCm39)	V1576G	probably damaging	Het
Gmfg	T	A	7: 28,140,733 (GRCm39)		probably null	Het
Gsdmc4	T	C	15: 63,774,706 (GRCm39)	E25G	possibly damaging	Het
Igkv6-23	A	T	6: 70,237,884 (GRCm39)	L12M	possibly damaging	Het
Kank1	G	A	19: 25,388,138 (GRCm39)	V604M	probably damaging	Het
Kctd1	A	G	18: 15,140,822 (GRCm39)	V40A	probably damaging	Het
Krt222	T	C	11: 99,127,065 (GRCm39)	K185R	possibly damaging	Het
Ldc1	A	G	4: 130,115,527 (GRCm39)	V7A	probably benign	Het
Lipm	T	C	19: 34,089,494 (GRCm39)	F151L	probably damaging	Het
Lrrc2	A	T	9: 110,791,710 (GRCm39)	N154I	probably damaging	Het
Map1a	T	A	2: 121,132,865 (GRCm39)	M1227K	probably damaging	Het
Med1	T	C	11: 98,071,114 (GRCm39)	T78A	probably damaging	Het
Mrm1	A	G	11: 84,710,144 (GRCm39)	S19P	possibly damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,657 (GRCm39)	Y354C	probably damaging	Het
Npr1	A	G	3: 90,368,448 (GRCm39)	V474A	probably benign	Het
Nyap1	A	T	5: 137,733,840 (GRCm39)	S398T	probably damaging	Het
Obox7	C	T	7: 14,398,067 (GRCm39)	Q36*	probably null	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c8	A	T	10: 128,915,358 (GRCm39)	I158N	probably benign	Het
P3h1	T	A	4: 119,090,428 (GRCm39)	L92H	probably benign	Het
Pappa2	T	C	1: 158,609,818 (GRCm39)	T1548A	possibly damaging	Het
Pnisr	A	G	4: 21,873,586 (GRCm39)	E443G	probably damaging	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Prom1	A	T	5: 44,190,284 (GRCm39)		probably null	Het
Rbm27	A	T	18: 42,455,186 (GRCm39)	Q646H	probably damaging	Het
Scamp3	C	T	3: 89,087,561 (GRCm39)	R134*	probably null	Het
Scrt2	T	C	2: 151,924,018 (GRCm39)	C17R	probably benign	Het
Setbp1	A	G	18: 78,902,498 (GRCm39)	S390P	probably benign	Het
Shank2	A	T	7: 143,964,837 (GRCm39)	D815V	probably damaging	Het
Sirt7	G	A	11: 120,511,296 (GRCm39)	T285M		Het
Sis	T	G	3: 72,863,621 (GRCm39)	S206R	probably benign	Het
Slc24a4	T	G	12: 102,193,334 (GRCm39)	D206E	possibly damaging	Het
Slc26a4	C	A	12: 31,585,292 (GRCm39)	G501C	probably damaging	Het
Sptb	T	C	12: 76,677,489 (GRCm39)	N115S	probably damaging	Het
Srprb	T	C	9: 103,074,807 (GRCm39)	T112A	possibly damaging	Het
Tbk1	G	T	10: 121,389,841 (GRCm39)	A537E	probably benign	Het
Tmem130	A	G	5: 144,674,233 (GRCm39)	S394P	probably damaging	Het
Tmem40	A	G	6: 115,718,517 (GRCm39)	S104P	possibly damaging	Het
Tmprss2	T	A	16: 97,379,826 (GRCm39)	Q158L	probably damaging	Het
Tnip1	A	T	11: 54,828,876 (GRCm39)	V97D	possibly damaging	Het
Tpr	T	A	1: 150,314,887 (GRCm39)	S1985T	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,744,158 (GRCm39)	N2591K	possibly damaging	Het
Ushbp1	A	T	8: 71,838,573 (GRCm39)	C618S	possibly damaging	Het
Usp34	A	G	11: 23,317,385 (GRCm39)	S834G	possibly damaging	Het
Vmn2r103	C	A	17: 20,019,525 (GRCm39)	C536*	probably null	Het
Vmn2r124	T	A	17: 18,293,758 (GRCm39)	V615D	probably damaging	Het
Zbtb38	G	A	9: 96,570,397 (GRCm39)	T229I	probably benign	Het
Zfhx4	T	A	3: 5,465,656 (GRCm39)	V1963E	probably damaging	Het
Zfp142	G	A	1: 74,610,933 (GRCm39)	T954M	probably benign	Het
Zgrf1	A	G	3: 127,409,216 (GRCm39)	Y1730C	probably benign	Het

Other mutations in Tbx19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGAACTCCATCTTCAGGTGC -3'
(R):5'- TGCAGTCATGGAGTTACACAC -3'

Sequencing Primer
(F):5'- CCTGAGGGAGAATGGTTT -3'
(R):5'- TGGAGTTACACACACATCTCATG -3'

Posted On

2022-10-06