Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Tbx19'

676958

Institutional Source

Beutler Lab

Gene Symbol

Tbx19

Ensembl Gene

ENSMUSG00000026572

Gene Name

T-box 19

Synonyms

D1Ertd754e, Tpit

MMRRC Submission

068750-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164965424-164988342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164966780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 365 (V365M)

Ref Sequence

ENSEMBL: ENSMUSP00000027859 (fasta)

Gene Model

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

AlphaFold

Q99ME7

Predicted Effect

probably benign
Transcript: ENSMUST00000027859
AA Change: V365M

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: V365M

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

SMART Domains

Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: V236M

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hinfp	A	G	9: 44,209,629 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Jrk	A	G	15: 74,579,004 (GRCm39)	Y94H	probably damaging	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or1e1f	T	G	11: 73,855,940 (GRCm39)	C169G	probably damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Slc30a9	G	T	5: 67,473,044 (GRCm39)	E43*	probably null	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Star	T	C	8: 26,302,897 (GRCm39)	S280P	probably benign	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	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
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'- CTGCCTAACTATCCAATGAAGAGG -3'
(R):5'- ACACAGTCATTGCCAGAAGTC -3'

Sequencing Primer
(F):5'- TGTGAGGCCACGGCTGTC -3'
(R):5'- TCCTCCCGGGAATATTGCTGG -3'

Posted On

2021-07-15