Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Tbx18'

236264

Institutional Source

Beutler Lab

Gene Symbol

Tbx18

Ensembl Gene

ENSMUSG00000032419

Gene Name

T-box18

Synonyms

2810012F10Rik, 2810404D13Rik

MMRRC Submission

040144-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87584853-87613313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87597706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 276 (V276A)

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: V276A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: V276A

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

0.4096

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,314,752 (GRCm39)	C150F	probably damaging	Het
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Abca15	A	C	7: 120,006,697 (GRCm39)	T1654P	probably damaging	Het
Abca17	T	A	17: 24,553,240 (GRCm39)	Y157F	probably benign	Het
Aftph	A	T	11: 20,648,318 (GRCm39)	L813*	probably null	Het
Agap1	T	C	1: 89,765,477 (GRCm39)	I615T	probably damaging	Het
Ak3	T	G	19: 29,000,247 (GRCm39)	Q221H	probably benign	Het
Aldoa	A	G	7: 126,396,814 (GRCm39)		probably null	Het
Anxa8	T	C	14: 33,813,873 (GRCm39)		probably null	Het
Atpsckmt	T	C	15: 31,609,718 (GRCm39)	F146L	probably benign	Het
Baz2a	A	G	10: 127,959,481 (GRCm39)	D1329G	probably damaging	Het
Calhm6	G	T	10: 34,003,691 (GRCm39)	A72E	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep70	A	G	9: 99,178,438 (GRCm39)	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Diablo	A	G	5: 123,661,424 (GRCm39)	V24A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,526,282 (GRCm39)	N335S	probably benign	Het
Flnc	A	G	6: 29,448,674 (GRCm39)	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,490,569 (GRCm39)		probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gjc3	A	C	5: 137,955,808 (GRCm39)	L159R	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm21957	G	T	7: 124,818,625 (GRCm39)		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm5885	A	G	6: 133,506,238 (GRCm39)		noncoding transcript	Het
Gon4l	A	T	3: 88,794,902 (GRCm39)	T402S	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Gvin-ps5	T	A	7: 105,929,163 (GRCm39)	T245S	probably damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Impdh2	A	G	9: 108,442,546 (GRCm39)	E305G	possibly damaging	Het
Ints7	T	A	1: 191,336,972 (GRCm39)	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Kcnq3	T	C	15: 65,867,700 (GRCm39)	M648V	probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Klhl36	T	C	8: 120,603,511 (GRCm39)	C589R	possibly damaging	Het
Lck	A	G	4: 129,442,713 (GRCm39)	Y481H	probably damaging	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Myo18b	T	C	5: 113,021,892 (GRCm39)	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,571,001 (GRCm39)	I458N	probably damaging	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nfasc	G	A	1: 132,524,383 (GRCm39)	P932L	probably damaging	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nkpd1	A	G	7: 19,258,162 (GRCm39)	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,754,946 (GRCm39)		probably benign	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,313,975 (GRCm39)	T95S	probably benign	Het
Or5d43	A	G	2: 88,105,354 (GRCm39)	V13A	probably benign	Het
Or5m13	A	G	2: 85,749,171 (GRCm39)	I301V	probably null	Het
Or6c201	A	G	10: 128,968,875 (GRCm39)	I254T	probably benign	Het
Pank1	G	A	19: 34,856,380 (GRCm39)	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,239,789 (GRCm39)	R77C	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Pramel7	T	A	2: 87,320,321 (GRCm39)	H324L	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgr3	T	C	18: 84,112,668 (GRCm39)	Y115H	probably benign	Het
Rai1	C	A	11: 60,080,293 (GRCm39)	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rufy2	G	T	10: 62,826,773 (GRCm39)	R104L	probably damaging	Het
Senp6	T	A	9: 80,031,102 (GRCm39)	N8K	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Sipa1l2	G	A	8: 126,218,230 (GRCm39)	P369L	probably benign	Het
Slc43a1	T	C	2: 84,671,305 (GRCm39)	L37P	probably damaging	Het
Slf1	T	A	13: 77,197,338 (GRCm39)		probably null	Het
Ssr2	T	A	3: 88,483,949 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tie1	G	A	4: 118,330,008 (GRCm39)	R1072*	probably null	Het
Tm2d2	C	A	8: 25,512,674 (GRCm39)	T174K	probably damaging	Het
Tmem98	A	G	11: 80,705,158 (GRCm39)	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,178,379 (GRCm39)	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Tonsl	A	T	15: 76,516,861 (GRCm39)	I923N	probably damaging	Het
Ttc21a	G	A	9: 119,793,361 (GRCm39)	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,886,783 (GRCm39)	D226G	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Wdr87-ps	T	C	7: 29,230,935 (GRCm39)		noncoding transcript	Het
Zfp408	A	G	2: 91,478,194 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,822,583 (GRCm39)	V160A	probably benign	Het
Zfp960	A	G	17: 17,308,146 (GRCm39)	T287A	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
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
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'- AGAGAGCTGGCTTTCTTTCTAC -3'
(R):5'- GACCATCCATGCAGCTTTGC -3'

Sequencing Primer
(F):5'- CTTTCTACACCTAAGGAGCCTAG -3'
(R):5'- CGTGACTCTCCTGCAAAA -3'

Posted On

2014-10-01