Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Tgfb3'

15911

Institutional Source

Beutler Lab

Gene Symbol

Tgfb3

Ensembl Gene

ENSMUSG00000021253

Gene Name

transforming growth factor, beta 3

Synonyms

Tgfb-3

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86103519-86125815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86116658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 127 (I127F)

Ref Sequence

ENSEMBL: ENSMUSP00000003687 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003687
AA Change: I127F

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: I127F

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

noncoding transcript
Transcript: ENSMUST00000192206

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 88.6%
3x: 85.4%
10x: 76.7%
20x: 62.7%

Validation Efficiency

90% (86/96)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,069,910 (GRCm39)		probably benign	Het
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,318,082 (GRCm39)		probably benign	Het
Acnat2	G	A	4: 49,380,586 (GRCm39)	T264I	probably benign	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Adcy5	A	G	16: 35,124,673 (GRCm39)		probably benign	Het
Akr1c13	T	C	13: 4,244,669 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019 (GRCm39)	I484V	probably benign	Het
Astn1	T	C	1: 158,407,294 (GRCm39)		probably benign	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Cpd	T	A	11: 76,683,685 (GRCm39)	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,158,086 (GRCm39)	V45A	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dnah10	A	G	5: 124,907,808 (GRCm39)	T4416A	probably benign	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama1	A	T	17: 68,089,051 (GRCm39)	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,363,202 (GRCm39)	D107G	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152 (GRCm39)		probably benign	Het
Mre11a	A	G	9: 14,742,269 (GRCm39)		probably benign	Het
Mtrf1l	T	C	10: 5,765,553 (GRCm39)		silent	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Parp3	A	T	9: 106,348,600 (GRCm39)	D473E	possibly damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,211,682 (GRCm39)	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,634,920 (GRCm39)	M662K	probably benign	Het
Skp2	A	G	15: 9,125,178 (GRCm39)	F134L	probably benign	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Slc8a3	T	C	12: 81,362,039 (GRCm39)	Y260C	probably damaging	Het
Spin1	T	A	13: 51,304,454 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,006,504 (GRCm39)	V863D	probably damaging	Het
Tgif1	T	G	17: 71,157,879 (GRCm39)	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het
Trps1	A	T	15: 50,628,921 (GRCm39)	S696T	probably benign	Het
Ucp1	A	G	8: 84,020,857 (GRCm39)	E191G	probably damaging	Het
Usp48	C	A	4: 137,341,114 (GRCm39)	D371E	probably damaging	Het
Usp54	A	T	14: 20,623,823 (GRCm39)		probably benign	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
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
R6257:Tgfb3	UTSW	12	86,124,615 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2013-01-08