Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Tgfb1'

628229

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

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

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

Stock #

R7654 (G1)

Quality Score

73.0074

Status

Validated

Chromosome

Chromosomal Location

25386427-25404502 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 25387120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002678] [ENSMUST00000108403] [ENSMUST00000169009] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]

AlphaFold

P04202

Predicted Effect

probably benign
Transcript: ENSMUST00000002678

SMART Domains

Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603

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: ENSMUST00000108403

SMART Domains

Protein: ENSMUSP00000104040
Gene: ENSMUSG00000063439

Domain	Start	End	E-Value	Type
Pfam:B9-C2	4	164	5.1e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169009

Predicted Effect

probably benign
Transcript: ENSMUST00000205325

Predicted Effect

probably benign
Transcript: ENSMUST00000205658

Predicted Effect

probably benign
Transcript: ENSMUST00000206913

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,815,032 (GRCm39)	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,223,702 (GRCm39)	E1161A	probably benign	Het
Adcy5	T	C	16: 35,091,317 (GRCm39)	S587P	probably damaging	Het
Aebp2	T	A	6: 140,599,474 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,727,154 (GRCm39)	V423A	probably damaging	Het
Arid1b	T	A	17: 5,341,360 (GRCm39)	M888K	possibly damaging	Het
Asl	C	A	5: 130,047,231 (GRCm39)	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,542,439 (GRCm39)	D109V	probably damaging	Het
Cat	G	A	2: 103,290,709 (GRCm39)	P402S	probably damaging	Het
Ccdc141	A	T	2: 76,872,822 (GRCm39)	Y787N	probably benign	Het
Ccdc78	T	C	17: 26,009,085 (GRCm39)	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,998,562 (GRCm39)	K145Q	probably benign	Het
Cfap65	A	T	1: 74,972,303 (GRCm39)	C19S	probably benign	Het
CN725425	T	A	15: 91,123,638 (GRCm39)	I118N	probably benign	Het
Ctc1	C	T	11: 68,917,041 (GRCm39)	P312S	probably damaging	Het
Ctsa	C	T	2: 164,680,853 (GRCm39)	T442I	probably benign	Het
Cyp2b9	A	G	7: 25,886,367 (GRCm39)	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,154,636 (GRCm39)	M1181T	probably damaging	Het
Dagla	C	G	19: 10,225,570 (GRCm39)	G865R	probably benign	Het
Dst	A	C	1: 34,268,058 (GRCm39)	K3153Q	probably damaging	Het
Dst	A	T	1: 34,268,059 (GRCm39)	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664 (GRCm39)	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,423,160 (GRCm39)	I286M	probably benign	Het
Flvcr1	A	T	1: 190,743,802 (GRCm39)	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,657,232 (GRCm39)	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,935,504 (GRCm39)	K222E	probably benign	Het
Gdpd5	G	A	7: 99,073,396 (GRCm39)	R26H	probably damaging	Het
Gnptab	T	A	10: 88,281,681 (GRCm39)	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,582,530 (GRCm39)	E256G	probably benign	Het
Hif3a	C	T	7: 16,783,021 (GRCm39)	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,236,581 (GRCm39)	T375A	probably benign	Het
Hspa4	C	A	11: 53,190,951 (GRCm39)	V15F	probably damaging	Het
Il18	A	G	9: 50,490,701 (GRCm39)	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,413,179 (GRCm39)		probably null	Het
Knop1	A	G	7: 118,445,032 (GRCm39)	S525P	unknown	Het
Leo1	A	T	9: 75,362,961 (GRCm39)	Y461F	possibly damaging	Het
Med1	C	T	11: 98,060,189 (GRCm39)	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,317,489 (GRCm39)	H159Q	probably benign	Het
Msl1	A	G	11: 98,686,937 (GRCm39)	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 91,094,665 (GRCm39)	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,657,671 (GRCm39)	L203Q	probably benign	Het
Or5m12	G	T	2: 85,734,663 (GRCm39)	T245N	possibly damaging	Het
Otoa	T	G	7: 120,746,923 (GRCm39)	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,278,076 (GRCm39)	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,434,168 (GRCm39)	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,565,697 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,776,324 (GRCm39)	V90A	probably damaging	Het
Pgam2	T	C	11: 5,753,351 (GRCm39)	K113R	probably null	Het
Phkb	G	T	8: 86,667,516 (GRCm39)	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,987,459 (GRCm39)	S346P	probably damaging	Het
Pkd1l3	G	A	8: 110,365,049 (GRCm39)	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,628,864 (GRCm39)	Y68C	possibly damaging	Het
Polk	T	C	13: 96,633,321 (GRCm39)	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,337,818 (GRCm39)	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,179,040 (GRCm39)	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,360,281 (GRCm39)	D386G	probably benign	Het
Rab22a	T	C	2: 173,529,968 (GRCm39)	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,837,652 (GRCm39)	D238G	probably damaging	Het
Rbp3	T	C	14: 33,677,797 (GRCm39)	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,411,941 (GRCm39)	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,237,173 (GRCm39)	E232G	probably damaging	Het
Shroom1	T	A	11: 53,357,735 (GRCm39)	V762E	probably benign	Het
Speer4f2	A	T	5: 17,579,413 (GRCm39)	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tnik	C	T	3: 28,658,334 (GRCm39)	R540C	probably damaging	Het
Tti1	A	T	2: 157,850,474 (GRCm39)	I255N	probably benign	Het
Ttn	T	C	2: 76,727,490 (GRCm39)	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995 (GRCm39)	V57M	probably damaging	Het
Usp30	T	A	5: 114,240,506 (GRCm39)	I49N	probably damaging	Het
Usp7	G	A	16: 8,519,907 (GRCm39)	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,590,261 (GRCm39)	Y552H	probably damaging	Het
Zfp616	A	G	11: 73,974,013 (GRCm39)	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,819,458 (GRCm39)	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,400,539 (GRCm39)	V53D	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
PIT4377001:Tgfb1	UTSW	7	25,396,343 (GRCm39)	missense	probably benign
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
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'- GAAGACTTCACCCCAAAGCTGG -3'
(R):5'- CCATGTCGATGGTCTTGCAG -3'

Sequencing Primer
(F):5'- CAAAGCTGGGGCGCACC -3'
(R):5'- GTCAGCACTAGAAGCCACGG -3'

Posted On

2020-02-11