Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Tgfb3'

506420

Institutional Source

Beutler Lab

Gene Symbol

Tgfb3

Ensembl Gene

ENSMUSG00000021253

Gene Name

transforming growth factor, beta 3

Synonyms

Tgfb-3

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86103519-86125815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86124615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 31 (D31G)

Ref Sequence

ENSEMBL: ENSMUSP00000003687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003687] [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003687
AA Change: D31G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: D31G

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
Pfam:TGFb_propeptide	23	281	2.7e-38	PFAM
TGFB	315	412	5.35e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054565

SMART Domains

Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867

Domain	Start	End	E-Value	Type
Pfam:IFT43	53	180	4.5e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222693

Predicted Effect

probably benign
Transcript: ENSMUST00000222821

Predicted Effect

probably benign
Transcript: ENSMUST00000222905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223269

Meta Mutation Damage Score

0.8714

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	probably damaging	Het

Other mutations in Tgfb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02609:Tgfb3	APN	12	86,124,613 (GRCm39)	missense	probably benign
IGL02899:Tgfb3	APN	12	86,116,550 (GRCm39)	missense	probably damaging	1.00
IGL03276:Tgfb3	APN	12	86,104,642 (GRCm39)	missense	probably damaging	0.99
R0050:Tgfb3	UTSW	12	86,116,658 (GRCm39)	missense	possibly damaging	0.85
R0053:Tgfb3	UTSW	12	86,124,603 (GRCm39)	missense	probably damaging	1.00
R0053:Tgfb3	UTSW	12	86,124,603 (GRCm39)	missense	probably damaging	1.00
R0976:Tgfb3	UTSW	12	86,116,606 (GRCm39)	missense	probably damaging	1.00
R1460:Tgfb3	UTSW	12	86,105,841 (GRCm39)	intron	probably benign
R1474:Tgfb3	UTSW	12	86,116,120 (GRCm39)	critical splice donor site	probably null
R1686:Tgfb3	UTSW	12	86,116,517 (GRCm39)	splice site	probably benign
R1826:Tgfb3	UTSW	12	86,108,818 (GRCm39)	missense	probably benign	0.04
R2105:Tgfb3	UTSW	12	86,116,543 (GRCm39)	missense	possibly damaging	0.91
R2294:Tgfb3	UTSW	12	86,116,684 (GRCm39)	missense	probably benign	0.17
R3159:Tgfb3	UTSW	12	86,105,760 (GRCm39)	missense	probably damaging	1.00
R4590:Tgfb3	UTSW	12	86,124,589 (GRCm39)	missense	possibly damaging	0.59
R4866:Tgfb3	UTSW	12	86,124,588 (GRCm39)	missense	possibly damaging	0.95
R4868:Tgfb3	UTSW	12	86,108,955 (GRCm39)	missense	probably benign	0.02
R5104:Tgfb3	UTSW	12	86,105,756 (GRCm39)	missense	possibly damaging	0.94
R6030:Tgfb3	UTSW	12	86,110,624 (GRCm39)	missense	probably benign	0.03
R6030:Tgfb3	UTSW	12	86,110,624 (GRCm39)	missense	probably benign	0.03
R6213:Tgfb3	UTSW	12	86,104,621 (GRCm39)	missense	probably damaging	1.00
R6331:Tgfb3	UTSW	12	86,110,638 (GRCm39)	missense	probably benign	0.03
R6762:Tgfb3	UTSW	12	86,116,237 (GRCm39)	missense	probably benign	0.00
R7473:Tgfb3	UTSW	12	86,108,923 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATAGTACTCAGACTCCGAGGTC -3'
(R):5'- TCATGCACCCTCTTGCCAAG -3'

Sequencing Primer
(F):5'- TCAGACTCCGAGGTCTCCTGAG -3'
(R):5'- GCCTCAGGCTTTGGGATC -3'

Posted On

2018-03-15