Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01893:Tbx19'

179298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx19

Ensembl Gene

ENSMUSG00000026572

Gene Name

T-box 19

Synonyms

Tpit, D1Ertd754e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL01893

Quality Score

Status

Chromosome

Chromosomal Location

165137855-165160773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165140198 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 327 (S327T)

Ref Sequence

ENSEMBL: ENSMUSP00000027859 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027859
AA Change: S327T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S327T

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

noncoding transcript
Transcript: ENSMUST00000160350

Predicted Effect

unknown
Transcript: ENSMUST00000161144
AA Change: S198T

SMART Domains

Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: S198T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161777

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,788,549	I275F	probably damaging	Het
Avil	G	A	10: 127,020,546	E815K	possibly damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Car9	T	A	4: 43,510,252	I278N	probably damaging	Het
Cast	T	A	13: 74,727,289	K480*	probably null	Het
Cenpj	A	G	14: 56,553,474	F373L	probably damaging	Het
Cspp1	T	C	1: 10,134,141		probably null	Het
Diaph3	G	A	14: 86,918,852	T675I	possibly damaging	Het
Dip2b	A	T	15: 100,171,220		probably benign	Het
Dnah1	T	C	14: 31,266,470	D3425G	probably damaging	Het
Dolk	A	G	2: 30,285,914	Y40H	probably benign	Het
Drosha	T	C	15: 12,866,650		probably benign	Het
Dusp15	A	G	2: 152,949,036		probably null	Het
Edrf1	T	C	7: 133,657,102	F770L	probably benign	Het
Gabra1	T	C	11: 42,133,759	K363R	possibly damaging	Het
Glipr1l1	A	C	10: 112,076,169	T203P	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
H2-Q10	T	C	17: 35,473,271	S270P	probably damaging	Het
Hipk2	A	T	6: 38,818,395	M313K	probably benign	Het
Htt	T	A	5: 34,876,830	I1920N	probably damaging	Het
Lsr	A	T	7: 30,962,232	V210E	possibly damaging	Het
Mbtd1	A	T	11: 93,921,412	I181L	probably null	Het
Mettl16	A	T	11: 74,805,271	T273S	possibly damaging	Het
Mlst8	T	C	17: 24,477,987	N74D	probably benign	Het
Nek9	A	G	12: 85,336,400	I102T	probably damaging	Het
Nme7	C	T	1: 164,345,281	A187V	probably damaging	Het
Nphp1	A	T	2: 127,769,644	W261R	probably damaging	Het
Olfr1148	G	T	2: 87,833,863	G275*	probably null	Het
Olfr1306	A	T	2: 111,912,244	S229T	possibly damaging	Het
Olfr90	A	G	17: 37,085,868	L99P	probably damaging	Het
Orc6	A	G	8: 85,307,643	D165G	probably damaging	Het
Ovca2	A	G	11: 75,178,307	S89P	probably benign	Het
Pcdhb12	T	G	18: 37,437,210	S470A	probably benign	Het
Phactr2	T	C	10: 13,247,188	T397A	probably benign	Het
Pms2	T	C	5: 143,923,519	L50P	probably damaging	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Serpinb11	C	A	1: 107,377,657	S254R	probably benign	Het
Serpinb11	C	A	1: 107,377,658	Q255K	probably benign	Het
Skap2	T	C	6: 51,874,576	T79A	probably damaging	Het
Themis3	A	G	17: 66,559,627	L206P	possibly damaging	Het
Tmem132c	T	A	5: 127,463,029	L373Q	possibly damaging	Het
Unc13c	G	T	9: 73,693,366	N1365K	probably benign	Het
Vmn2r106	A	T	17: 20,277,468	M503K	probably benign	Het
Vmn2r33	A	G	7: 7,563,777	I112T	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps13a	A	C	19: 16,663,775	W2328G	probably damaging	Het

Other mutations in Tbx19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tbx19	APN	1	165160399	missense	probably benign	0.05
IGL00849:Tbx19	APN	1	165152040	missense	probably benign	0.08
IGL01545:Tbx19	APN	1	165139156	missense	possibly damaging	0.77
IGL02451:Tbx19	APN	1	165140171	missense	probably benign	0.03
IGL02514:Tbx19	APN	1	165153704	missense	probably benign	0.15
R0009:Tbx19	UTSW	1	165160520	missense	possibly damaging	0.93
R0009:Tbx19	UTSW	1	165160520	missense	possibly damaging	0.93
R1600:Tbx19	UTSW	1	165142567	missense	possibly damaging	0.52
R4605:Tbx19	UTSW	1	165153584	missense	possibly damaging	0.87
R5410:Tbx19	UTSW	1	165160372	missense	probably damaging	0.99
R5441:Tbx19	UTSW	1	165153680	missense	probably damaging	0.99
R6814:Tbx19	UTSW	1	165147633	critical splice donor site	probably null
R6822:Tbx19	UTSW	1	165140140	missense	probably damaging	0.98
R6872:Tbx19	UTSW	1	165147633	critical splice donor site	probably null
R7078:Tbx19	UTSW	1	165160566	start gained	probably benign
R7711:Tbx19	UTSW	1	165139199	missense	probably benign
Z1176:Tbx19	UTSW	1	165142507	missense	probably damaging	0.99
Z1177:Tbx19	UTSW	1	165142574	missense	probably benign	0.01

Posted On

2014-05-07