Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Tbx19'

40447

Institutional Source

Beutler Lab

Gene Symbol

Tbx19

Ensembl Gene

ENSMUSG00000026572

Gene Name

T-box 19

Synonyms

D1Ertd754e, Tpit

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R0009 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

164965424-164988342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164988089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 15 (S15T)

Ref Sequence

ENSEMBL: ENSMUSP00000027859 (fasta)

Gene Model

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

AlphaFold

Q99ME7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027859
AA Change: S15T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S15T

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

Meta Mutation Damage Score

0.0859

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,380,103 (GRCm39)	V14E	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,746,636 (GRCm39)	P151S	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm39)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTACCTTCCTCGCCAAGCAAAG -3'
(R):5'- TTTCAGGGGTGTCACACTGGAAGC -3'

Sequencing Primer
(F):5'- TAGCACAAGTGGGCTGC -3'
(R):5'- TTTAGCAAGAGCCAAGGCATC -3'

Posted On

2013-05-23