Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Tbx18'

21379

Institutional Source

Beutler Lab

Gene Symbol

Tbx18

Ensembl Gene

ENSMUSG00000032419

Gene Name

T-box18

Synonyms

2810012F10Rik, 2810404D13Rik

MMRRC Submission

038411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0126 (G1)

Quality Score

154

Status

Validated (trace)

Chromosome

Chromosomal Location

87584853-87613313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87611706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 108 (D108V)

Ref Sequence

ENSEMBL: ENSMUSP00000034991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034991]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034991
AA Change: D108V

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: D108V

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	67	87	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC
TBOX	144	341	8.7e-127	SMART
low complexity region	461	476	N/A	INTRINSIC
low complexity region	555	567	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192660

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
Ano4	T	A	10: 88,788,154 (GRCm39)	I753F	possibly damaging	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Degs1	T	C	1: 182,107,257 (GRCm39)	M1V	probably null	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prdm16	A	T	4: 154,413,295 (GRCm39)		probably benign	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Ret	C	T	6: 118,142,956 (GRCm39)		probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Snap47	A	G	11: 59,328,813 (GRCm39)	V163A	probably damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het

Other mutations in Tbx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Tbx18	APN	9	87,587,676 (GRCm39)	missense	possibly damaging	0.90
IGL00832:Tbx18	APN	9	87,587,714 (GRCm39)	missense	probably damaging	1.00
IGL01287:Tbx18	APN	9	87,606,384 (GRCm39)	missense	probably damaging	0.98
IGL01406:Tbx18	APN	9	87,595,596 (GRCm39)	missense	probably damaging	0.99
IGL01587:Tbx18	APN	9	87,606,461 (GRCm39)	missense	probably damaging	0.99
IGL01898:Tbx18	APN	9	87,589,912 (GRCm39)	missense	possibly damaging	0.92
IGL02624:Tbx18	APN	9	87,609,459 (GRCm39)	missense	probably damaging	1.00
IGL03057:Tbx18	APN	9	87,612,882 (GRCm39)	missense	probably damaging	0.99
IGL03252:Tbx18	APN	9	87,587,633 (GRCm39)	missense	probably damaging	1.00
R0243:Tbx18	UTSW	9	87,597,569 (GRCm39)	splice site	probably benign
R0374:Tbx18	UTSW	9	87,606,408 (GRCm39)	missense	probably damaging	0.97
R0666:Tbx18	UTSW	9	87,606,462 (GRCm39)	missense	probably benign	0.13
R2141:Tbx18	UTSW	9	87,597,706 (GRCm39)	missense	probably damaging	0.99
R2183:Tbx18	UTSW	9	87,587,789 (GRCm39)	missense	probably damaging	0.98
R2233:Tbx18	UTSW	9	87,606,403 (GRCm39)	missense	probably damaging	1.00
R2234:Tbx18	UTSW	9	87,606,403 (GRCm39)	missense	probably damaging	1.00
R2235:Tbx18	UTSW	9	87,606,403 (GRCm39)	missense	probably damaging	1.00
R3835:Tbx18	UTSW	9	87,611,689 (GRCm39)	missense	probably benign
R4214:Tbx18	UTSW	9	87,606,518 (GRCm39)	missense	probably damaging	1.00
R4606:Tbx18	UTSW	9	87,612,822 (GRCm39)	missense	possibly damaging	0.84
R4834:Tbx18	UTSW	9	87,609,502 (GRCm39)	missense	possibly damaging	0.48
R5112:Tbx18	UTSW	9	87,597,740 (GRCm39)	missense	probably damaging	1.00
R5887:Tbx18	UTSW	9	87,595,566 (GRCm39)	missense	possibly damaging	0.58
R6628:Tbx18	UTSW	9	87,597,588 (GRCm39)	nonsense	probably null
R6659:Tbx18	UTSW	9	87,589,864 (GRCm39)	missense	probably damaging	1.00
R7001:Tbx18	UTSW	9	87,609,457 (GRCm39)	missense	probably damaging	1.00
R7057:Tbx18	UTSW	9	87,587,317 (GRCm39)	missense	possibly damaging	0.94
R7167:Tbx18	UTSW	9	87,589,883 (GRCm39)	missense	probably damaging	1.00
R7368:Tbx18	UTSW	9	87,612,750 (GRCm39)	missense	probably benign
R8147:Tbx18	UTSW	9	87,606,411 (GRCm39)	missense	probably damaging	0.97
R8993:Tbx18	UTSW	9	87,612,770 (GRCm39)	missense	probably benign	0.00
R9263:Tbx18	UTSW	9	87,611,521 (GRCm39)	missense	probably damaging	0.97
R9291:Tbx18	UTSW	9	87,611,535 (GRCm39)	missense	probably damaging	1.00
R9396:Tbx18	UTSW	9	87,609,432 (GRCm39)	missense	probably damaging	1.00
R9420:Tbx18	UTSW	9	87,612,675 (GRCm39)	missense	probably benign
R9508:Tbx18	UTSW	9	87,587,926 (GRCm39)	missense	probably damaging	0.96
R9577:Tbx18	UTSW	9	87,611,512 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTAAATGAAACTGGGCCGGGATG -3'
(R):5'- TAGGAACTCGGTGGGACCCTAAAG -3'

Sequencing Primer
(F):5'- GGAGACTCAAGCTTACCTGC -3'
(R):5'- GGCCTCAAGGCAACTCC -3'

Posted On

2013-04-11