Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Tbx18'

710839

Institutional Source

Beutler Lab

Gene Symbol

Tbx18

Ensembl Gene

ENSMUSG00000032419

Gene Name

T-box18

Synonyms

2810012F10Rik, 2810404D13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87584853-87613313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87609432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 201 (D201G)

Ref Sequence

ENSEMBL: ENSMUSP00000034991 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034991
AA Change: D201G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: D201G

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

Meta Mutation Damage Score

0.9660

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 85,000,282 (GRCm39)	F281I	probably damaging	Het
Acad8	A	G	9: 26,887,041 (GRCm39)	M402T	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Apol7a	T	C	15: 77,273,925 (GRCm39)	E179G	possibly damaging	Het
Asmt	A	G	X: 169,110,141 (GRCm39)	T217A	probably benign	Het
Cadm2	T	C	16: 66,544,102 (GRCm39)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,864,623 (GRCm39)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,878,230 (GRCm39)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,172,903 (GRCm39)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,182,895 (GRCm39)	S1268N	probably damaging	Het
Csrnp3	C	T	2: 65,832,841 (GRCm39)	R127C	probably damaging	Het
Dsc2	T	A	18: 20,174,773 (GRCm39)	R501*	probably null	Het
Dusp2	C	T	2: 127,179,638 (GRCm39)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,261,838 (GRCm39)	K878E	possibly damaging	Het
Evc	T	C	5: 37,476,434 (GRCm39)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,194,390 (GRCm39)	K166*	probably null	Het
Fstl4	C	A	11: 52,664,778 (GRCm39)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,313,659 (GRCm39)	I551N	probably benign	Het
Hc	G	T	2: 34,927,615 (GRCm39)	S333*	probably null	Het
Ibsp	A	G	5: 104,458,297 (GRCm39)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,240,937 (GRCm39)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,161,662 (GRCm39)	T531P	probably damaging	Het
Mapt	C	A	11: 104,189,555 (GRCm39)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,647,496 (GRCm39)	T1840A	probably benign	Het
Myof	A	T	19: 37,923,294 (GRCm39)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,513,199 (GRCm39)	V626L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,399,749 (GRCm39)	M291K	probably damaging	Het
Nubp2	C	T	17: 25,103,476 (GRCm39)	V134I	probably benign	Het
Nuf2	T	C	1: 169,337,917 (GRCm39)	I287V	probably benign	Het
Or1d2	T	A	11: 74,256,089 (GRCm39)	M198K	probably benign	Het
Or2n1	T	A	17: 38,486,421 (GRCm39)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,319,864 (GRCm39)	L213P	probably benign	Het
Or51i2	A	G	7: 103,689,720 (GRCm39)	N239S	probably benign	Het
Or55b4	A	C	7: 102,134,180 (GRCm39)	V49G	possibly damaging	Het
Or5k3	G	A	16: 58,969,302 (GRCm39)	V30M	probably damaging	Het
Or8k28	A	T	2: 86,285,845 (GRCm39)	C257S	probably benign	Het
Pals1	G	T	12: 78,871,521 (GRCm39)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r12a	A	G	10: 108,100,571 (GRCm39)	E863G	probably damaging	Het
Pskh1	C	T	8: 106,640,091 (GRCm39)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,377,188 (GRCm39)	I334V	probably benign	Het
Rnf180	T	A	13: 105,318,027 (GRCm39)	K462*	probably null	Het
Sin3a	A	G	9: 57,008,445 (GRCm39)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,694,463 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,915 (GRCm39)	T426A	probably benign	Het
Smarca5	T	C	8: 81,463,358 (GRCm39)	K70R	probably benign	Het
Smg1	A	G	7: 117,807,303 (GRCm39)	V182A	unknown	Het
Stim1	G	A	7: 102,064,592 (GRCm39)	V221I	possibly damaging	Het
Tcf25	A	G	8: 124,127,831 (GRCm39)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,523,472 (GRCm39)	N135S	possibly damaging	Het
Togaram1	A	G	12: 65,014,429 (GRCm39)	N560S	probably damaging	Het
Unc13d	A	G	11: 115,966,529 (GRCm39)		probably null	Het
Zfp445	A	C	9: 122,681,581 (GRCm39)	S787A	probably benign	Het
Zfp949	T	C	9: 88,449,260 (GRCm39)	W22R	probably damaging	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
R0126:Tbx18	UTSW	9	87,611,706 (GRCm39)	missense	possibly damaging	0.50
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
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'- CCCTGAGTTTCCACATAGGC -3'
(R):5'- TATCAGAGTGAAGGATAAGCTTGTC -3'

Sequencing Primer
(F):5'- TTTCCACATAGGCTGAGGGAC -3'
(R):5'- CAAACAGGCGCATGTTT -3'

Posted On

2022-04-18