Mutagenetix > Incidental Mutation

Incidental Mutation 'R5104:Tgfb3'

392578

Institutional Source

Beutler Lab

Gene Symbol

Tgfb3

Ensembl Gene

ENSMUSG00000021253

Gene Name

transforming growth factor, beta 3

Synonyms

Tgfb-3

MMRRC Submission

042692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5104 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86103519-86125815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86105756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 333 (V333A)

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: V333A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: V333A

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: ENSMUST00000175844

SMART Domains

Protein: ENSMUSP00000134934
Gene: ENSMUSG00000012609

Domain	Start	End	E-Value	Type
low complexity region	136	150	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,121 (GRCm39)	F109L	probably damaging	Het
Ano4	T	A	10: 88,903,974 (GRCm39)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,105,487 (GRCm39)	R214*	probably null	Het
Armh4	A	T	14: 50,010,929 (GRCm39)	D259E	possibly damaging	Het
Atl2	A	T	17: 80,160,046 (GRCm39)	S47T	probably benign	Het
Azgp1	T	G	5: 137,985,815 (GRCm39)	I146S	probably damaging	Het
Bicral	G	A	17: 47,112,182 (GRCm39)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 46,395,729 (GRCm39)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,325,346 (GRCm39)		probably null	Het
Cxcr5	G	T	9: 44,424,616 (GRCm39)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,353,126 (GRCm39)	H62P	probably damaging	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Ehd3	A	G	17: 74,134,442 (GRCm39)	N267S	probably benign	Het
Eno4	A	G	19: 58,933,973 (GRCm39)	Y58C	probably benign	Het
Fat2	A	G	11: 55,169,814 (GRCm39)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,063,315 (GRCm39)	A214D	probably damaging	Het
Gabrg1	A	C	5: 70,931,775 (GRCm39)	S323A	probably damaging	Het
Gbp9	T	C	5: 105,228,007 (GRCm39)	I592V	probably benign	Het
Gje1	G	A	10: 14,592,462 (GRCm39)	Q107*	probably null	Het
Gm29609	T	C	5: 31,311,638 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,082,418 (GRCm39)	F78I	probably benign	Het
Hecw1	T	C	13: 14,515,377 (GRCm39)	R252G	probably damaging	Het
Hsd3b5	T	A	3: 98,526,592 (GRCm39)	S285C	probably damaging	Het
Ighv1-74	T	C	12: 115,766,507 (GRCm39)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,138 (GRCm39)	D108G	probably damaging	Het
Il6st	C	G	13: 112,625,182 (GRCm39)	T266S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kit	A	G	5: 75,776,138 (GRCm39)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,269,265 (GRCm39)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,828,758 (GRCm39)	R369W	probably damaging	Het
Larp4	T	A	15: 99,883,964 (GRCm39)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,582,040 (GRCm39)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,119,579 (GRCm39)	L157S	probably damaging	Het
Naa16	A	T	14: 79,622,140 (GRCm39)	Y32*	probably null	Het
Nbea	A	G	3: 55,987,348 (GRCm39)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,268,159 (GRCm39)	V475A	probably benign	Het
Noxa1	T	C	2: 24,976,246 (GRCm39)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,918,159 (GRCm39)	K311*	probably null	Het
Or2ag17	A	T	7: 106,389,539 (GRCm39)	F223Y	possibly damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or2y3	A	T	17: 38,393,174 (GRCm39)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 163,885,507 (GRCm39)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,098,914 (GRCm39)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,655,415 (GRCm39)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,575,964 (GRCm39)		probably null	Het
Proz	A	G	8: 13,116,931 (GRCm39)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,158,364 (GRCm39)	H765Q	probably benign	Het
Relch	T	C	1: 105,658,965 (GRCm39)	V883A	probably benign	Het
Rffl	A	T	11: 82,703,619 (GRCm39)	C101*	probably null	Het
Rfx5	C	T	3: 94,862,451 (GRCm39)	T36I	probably benign	Het
Rnase12	C	A	14: 51,294,361 (GRCm39)	C106F	probably damaging	Het
Samd3	T	C	10: 26,139,686 (GRCm39)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,674,175 (GRCm39)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,260,908 (GRCm39)	E607G	probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Taf15	A	G	11: 83,378,222 (GRCm39)	Y154C	probably damaging	Het
Tiam1	A	G	16: 89,614,929 (GRCm39)	S2P	probably benign	Het
Tmed11	T	C	5: 108,925,142 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,170,257 (GRCm39)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,264,114 (GRCm39)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,098,745 (GRCm39)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,259,347 (GRCm39)	V115A	probably benign	Het
Tut1	A	G	19: 8,936,698 (GRCm39)	E174G	probably benign	Het
Ubr3	T	A	2: 69,768,600 (GRCm39)	M469K	probably damaging	Het
Vcan	C	T	13: 89,805,591 (GRCm39)		probably benign	Het
Wapl	C	T	14: 34,414,016 (GRCm39)	Q293*	probably null	Het
Wdr24	A	G	17: 26,043,565 (GRCm39)	H129R	probably damaging	Het
Wrn	A	T	8: 33,757,895 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCCAAGATCAGAACGTTG -3'
(R):5'- ATAATGGCAGAAGTGTCTTAATGGG -3'

Sequencing Primer
(F):5'- CTGCCAAGATCAGAACGTTGTTACAG -3'
(R):5'- TGTCTTAATGGGAGACAGGAAGAC -3'

Posted On

2016-06-15