Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Tgfb3'

510933

Institutional Source

Beutler Lab

Gene Symbol

Tgfb3

Ensembl Gene

ENSMUSG00000021253

Gene Name

transforming growth factor, beta 3

Synonyms

Tgfb-3

MMRRC Submission

044485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86103519-86125815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86110638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 237 (D237E)

Ref Sequence

ENSEMBL: ENSMUSP00000003687 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003687
AA Change: D237E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: D237E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,519 (GRCm39)	T364A	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Gucy1b1	A	G	3: 81,941,718 (GRCm39)	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,901,968 (GRCm39)	E939G	probably damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or4a2	C	T	2: 89,248,695 (GRCm39)	G21S	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,282,716 (GRCm39)	H419L	probably damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	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
R6257:Tgfb3	UTSW	12	86,124,615 (GRCm39)	missense	possibly damaging	0.94
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'- TCAAGTGGAATGCTTCTGCTC -3'
(R):5'- CAGGAAGCTCACTCTGAGTTTTG -3'

Sequencing Primer
(F):5'- TCAGCGCTTTGAGGACAAAAC -3'
(R):5'- AAGCTCACTCTGAGTTTTGTGAGTTC -3'

Posted On

2018-04-02