Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Tgfb1'

554921

Institutional Source

Beutler Lab

Gene Symbol

Tgfb1

Ensembl Gene

ENSMUSG00000002603

Gene Name

transforming growth factor, beta 1

Synonyms

Tgfb, TGF-beta1, TGF-beta 1, Tgfb-1, TGFbeta1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

PIT4377001 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

25386427-25404502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25396343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 212 (D212G)

Ref Sequence

ENSEMBL: ENSMUSP00000002678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002678] [ENSMUST00000169009]

AlphaFold

P04202

Predicted Effect

probably benign
Transcript: ENSMUST00000002678
AA Change: D212G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603
AA Change: D212G

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:TGFb_propeptide	29	261	3.2e-41	PFAM
TGFB	293	390	1.95e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169009

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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 encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]
PHENOTYPE: Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129 (GRCm39)	C112R	possibly damaging	Het
Acadl	G	A	1: 66,877,564 (GRCm39)	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,677,104 (GRCm39)	L1909P	probably damaging	Het
Aff3	A	C	1: 38,578,044 (GRCm39)	V31G	probably damaging	Het
Bag3	A	G	7: 128,147,441 (GRCm39)	D352G	probably damaging	Het
Bcas3	A	T	11: 85,386,668 (GRCm39)	T368S	probably damaging	Het
Bmp3	A	G	5: 99,027,608 (GRCm39)	I434V	unknown	Het
Casq1	T	A	1: 172,039,568 (GRCm39)	T336S	probably benign	Het
Cib2	T	G	9: 54,467,271 (GRCm39)	E11A	probably damaging	Het
Cttn	C	A	7: 143,993,833 (GRCm39)	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,406,795 (GRCm39)	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,532,837 (GRCm39)	A586T	probably benign	Het
Defb1	C	A	8: 22,266,716 (GRCm39)	Q17K	possibly damaging	Het
Dgat2	T	C	7: 98,806,342 (GRCm39)	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,571,404 (GRCm39)	F732Y	probably damaging	Het
Dock2	T	G	11: 34,611,835 (GRCm39)	D176A	probably benign	Het
Epha6	A	G	16: 60,025,915 (GRCm39)	I509T	probably damaging	Het
Fblim1	C	T	4: 141,322,720 (GRCm39)	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,050,795 (GRCm39)	H371L	probably benign	Het
Foxa1	T	A	12: 57,589,567 (GRCm39)	I218F	probably damaging	Het
Fstl1	A	T	16: 37,636,167 (GRCm39)	I53F	probably benign	Het
Gdnf	A	G	15: 7,864,011 (GRCm39)	R141G	probably benign	Het
Gemin7	G	A	7: 19,299,242 (GRCm39)	R118*	probably null	Het
Gm43218	T	C	6: 70,217,565 (GRCm39)	T64A	probably benign	Het
Gnat3	G	A	5: 18,220,557 (GRCm39)	M243I		Het
Gramd1a	A	T	7: 30,843,095 (GRCm39)	I71N	possibly damaging	Het
H4c12	C	G	13: 21,934,654 (GRCm39)	G8R	unknown	Het
Htt	A	T	5: 35,033,309 (GRCm39)	D1859V	probably benign	Het
Hyal1	T	C	9: 107,456,468 (GRCm39)	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,954,858 (GRCm39)	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,743,192 (GRCm39)	R64G	probably benign	Het
Itgb1	T	A	8: 129,436,864 (GRCm39)	V95D	probably damaging	Het
Jak1	A	C	4: 101,036,748 (GRCm39)	N297K	probably benign	Het
Kcna4	T	A	2: 107,127,205 (GRCm39)	N646K	possibly damaging	Het
Krt42	A	G	11: 100,153,931 (GRCm39)	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,338,596 (GRCm39)	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,763,469 (GRCm39)	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,451,289 (GRCm39)	T410M	probably damaging	Het
Nav3	T	C	10: 109,552,466 (GRCm39)	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,820,288 (GRCm39)	C49R	probably benign	Het
Neurl4	A	G	11: 69,801,232 (GRCm39)	H1201R	probably benign	Het
Nfasc	T	C	1: 132,510,804 (GRCm39)	Y1073C	unknown	Het
Nrbp2	A	G	15: 75,958,945 (GRCm39)	Y253H	probably benign	Het
Or10c1	T	A	17: 37,521,980 (GRCm39)	I255F	probably benign	Het
Or4g16	T	A	2: 111,137,225 (GRCm39)	V225D	probably damaging	Het
Or4k45	T	C	2: 111,395,556 (GRCm39)	T78A	probably damaging	Het
Pcsk5	A	T	19: 17,416,466 (GRCm39)	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,110,924 (GRCm39)	D147A	probably damaging	Het
Siglec15	T	A	18: 78,100,590 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,454,900 (GRCm39)	T1011S	unknown	Het
Slc9a2	A	G	1: 40,783,001 (GRCm39)	T422A	probably damaging	Het
Tert	C	T	13: 73,776,380 (GRCm39)	T377I	possibly damaging	Het
Tex15	T	A	8: 34,061,129 (GRCm39)	S186R	probably damaging	Het
Tnc	T	G	4: 63,935,973 (GRCm39)	D321A	probably damaging	Het
Topbp1	G	A	9: 103,187,088 (GRCm39)	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,320,203 (GRCm39)	M1I	probably null	Het
Vipr2	G	A	12: 116,058,418 (GRCm39)	D112N	probably benign	Het
Vps13a	T	C	19: 16,718,265 (GRCm39)	E485G	probably damaging	Het
Vps37a	T	A	8: 40,990,087 (GRCm39)	I198N	possibly damaging	Het
Zbtb9	T	C	17: 27,193,735 (GRCm39)	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,307,802 (GRCm39)	V343L	probably damaging	Het

Other mutations in Tgfb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Tgfb1	APN	7	25,387,442 (GRCm39)	missense	probably damaging	1.00
IGL03028:Tgfb1	APN	7	25,403,621 (GRCm39)	missense	probably damaging	1.00
R0004:Tgfb1	UTSW	7	25,391,791 (GRCm39)	splice site	probably benign
R0048:Tgfb1	UTSW	7	25,393,779 (GRCm39)	splice site	probably benign
R0048:Tgfb1	UTSW	7	25,393,779 (GRCm39)	splice site	probably benign
R0470:Tgfb1	UTSW	7	25,387,355 (GRCm39)	unclassified	probably benign
R1872:Tgfb1	UTSW	7	25,391,891 (GRCm39)	missense	probably damaging	1.00
R2178:Tgfb1	UTSW	7	25,404,234 (GRCm39)	missense	probably damaging	1.00
R4581:Tgfb1	UTSW	7	25,396,655 (GRCm39)	missense	possibly damaging	0.81
R5484:Tgfb1	UTSW	7	25,387,574 (GRCm39)	missense	probably benign	0.00
R5663:Tgfb1	UTSW	7	25,393,706 (GRCm39)	missense	possibly damaging	0.93
R5781:Tgfb1	UTSW	7	25,396,385 (GRCm39)	missense	probably benign	0.00
R6548:Tgfb1	UTSW	7	25,396,350 (GRCm39)	missense	probably benign	0.01
R6727:Tgfb1	UTSW	7	25,388,587 (GRCm39)	unclassified	probably benign
R7203:Tgfb1	UTSW	7	25,391,964 (GRCm39)	critical splice donor site	probably null
R7449:Tgfb1	UTSW	7	25,404,263 (GRCm39)	missense	probably damaging	1.00
R7654:Tgfb1	UTSW	7	25,387,120 (GRCm39)	unclassified	probably benign
R8257:Tgfb1	UTSW	7	25,396,373 (GRCm39)	missense	probably damaging	0.97
R9124:Tgfb1	UTSW	7	25,388,580 (GRCm39)	nonsense	probably null
R9418:Tgfb1	UTSW	7	25,391,952 (GRCm39)	missense	probably damaging	1.00
Z1177:Tgfb1	UTSW	7	25,387,633 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCAGAGCCTTTCCCGAGG -3'
(R):5'- TTCATGTCATGGATGGTGCCC -3'

Sequencing Primer
(F):5'- AGCCTTTCCCGAGGGGTTG -3'
(R):5'- TTGTGGTGAAGGACATACACACAC -3'

Posted On

2019-06-07