Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Tbx19'

717133

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: 0.637) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164965424-164988342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164966546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 443 (S443P)

Ref Sequence

ENSEMBL: ENSMUSP00000027859 (fasta)

Gene Model

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

AlphaFold

Q99ME7

Predicted Effect

unknown
Transcript: ENSMUST00000027859
AA Change: S443P

SMART Domains

Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S443P

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

unknown
Transcript: ENSMUST00000161144
AA Change: S314P

SMART Domains

Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: S314P

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gemin4	A	G	11: 76,101,749 (GRCm39)	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Lrrc41	T	A	4: 115,932,806 (GRCm39)		probably null	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Podn	C	T	4: 107,876,106 (GRCm39)	V517I	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tmem87b	T	C	2: 128,660,353 (GRCm39)	L32P	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	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
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'- TTTGCAACCTAAGCGTGGCC -3'
(R):5'- GAACCCTGCTGTCACTTCAC -3'

Sequencing Primer
(F):5'- CTAAGCGTGGCCAAGATAAATC -3'
(R):5'- TGCTGTCACTTCACCTTCC -3'

Posted On

2022-07-18