Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Tgfbi'

252410

Institutional Source

Beutler Lab

Gene Symbol

Tgfbi

Ensembl Gene

ENSMUSG00000035493

Gene Name

transforming growth factor, beta induced

Synonyms

68kDa, bIG-h3, Beta-ig

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56757399-56787172 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 56786521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045173] [ENSMUST00000045173] [ENSMUST00000225600]

AlphaFold

P82198

Predicted Effect

probably null
Transcript: ENSMUST00000045173

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	139	239	1.35e-33	SMART
FAS1	276	374	6.75e-34	SMART
FAS1	411	501	1.16e-14	SMART
FAS1	538	635	6.75e-34	SMART
low complexity region	656	667	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000045173

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	139	239	1.35e-33	SMART
FAS1	276	374	6.75e-34	SMART
FAS1	411	501	1.16e-14	SMART
FAS1	538	635	6.75e-34	SMART
low complexity region	656	667	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show delayed growth and are prone to spontaneous and induced tumors. Homozygotes for a second null allele are prone to STZ-induced diabetes and show impaired islet function under stress. Homozygotes for a third null allele show a transient decrease in retinal apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Tgfbi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Tgfbi	APN	13	56,778,408 (GRCm39)	missense	probably benign	0.41
IGL02021:Tgfbi	APN	13	56,779,166 (GRCm39)	missense	probably damaging	1.00
IGL02325:Tgfbi	APN	13	56,779,043 (GRCm39)	missense	probably benign	0.00
PIT4486001:Tgfbi	UTSW	13	56,777,607 (GRCm39)	missense	probably damaging	0.98
R0008:Tgfbi	UTSW	13	56,777,587 (GRCm39)	missense	probably benign	0.00
R0122:Tgfbi	UTSW	13	56,775,781 (GRCm39)	missense	probably damaging	1.00
R0389:Tgfbi	UTSW	13	56,777,515 (GRCm39)	missense	probably benign	0.02
R0419:Tgfbi	UTSW	13	56,780,006 (GRCm39)	splice site	probably benign
R0432:Tgfbi	UTSW	13	56,780,004 (GRCm39)	splice site	probably benign
R0671:Tgfbi	UTSW	13	56,786,539 (GRCm39)	missense	probably null	1.00
R0825:Tgfbi	UTSW	13	56,786,523 (GRCm39)	splice site	probably benign
R1263:Tgfbi	UTSW	13	56,778,468 (GRCm39)	missense	probably damaging	1.00
R1597:Tgfbi	UTSW	13	56,780,004 (GRCm39)	splice site	probably benign
R1864:Tgfbi	UTSW	13	56,780,694 (GRCm39)	missense	probably benign	0.16
R1940:Tgfbi	UTSW	13	56,762,127 (GRCm39)	missense	possibly damaging	0.92
R3111:Tgfbi	UTSW	13	56,757,547 (GRCm39)	missense	probably damaging	1.00
R3613:Tgfbi	UTSW	13	56,773,539 (GRCm39)	missense	probably damaging	1.00
R4815:Tgfbi	UTSW	13	56,779,933 (GRCm39)	missense	probably benign	0.45
R5847:Tgfbi	UTSW	13	56,784,418 (GRCm39)	missense	possibly damaging	0.94
R6314:Tgfbi	UTSW	13	56,773,976 (GRCm39)	missense	probably benign	0.01
R6810:Tgfbi	UTSW	13	56,785,016 (GRCm39)	missense	probably benign
R6821:Tgfbi	UTSW	13	56,773,950 (GRCm39)	missense	possibly damaging	0.95
R6943:Tgfbi	UTSW	13	56,784,989 (GRCm39)	missense	possibly damaging	0.77
R7165:Tgfbi	UTSW	13	56,775,829 (GRCm39)	missense	probably damaging	0.99
R7297:Tgfbi	UTSW	13	56,779,926 (GRCm39)	missense	possibly damaging	0.74
R7770:Tgfbi	UTSW	13	56,780,657 (GRCm39)	splice site	probably null
R7910:Tgfbi	UTSW	13	56,779,997 (GRCm39)	missense	probably damaging	1.00
R7914:Tgfbi	UTSW	13	56,777,502 (GRCm39)	missense	probably damaging	1.00
R8721:Tgfbi	UTSW	13	56,773,599 (GRCm39)	missense	probably benign	0.08
R8758:Tgfbi	UTSW	13	56,779,894 (GRCm39)	missense	probably damaging	1.00
R8978:Tgfbi	UTSW	13	56,778,391 (GRCm39)	missense	probably benign	0.01
R9002:Tgfbi	UTSW	13	56,771,402 (GRCm39)	missense	probably damaging	1.00
R9171:Tgfbi	UTSW	13	56,773,526 (GRCm39)	missense	probably damaging	0.99
R9286:Tgfbi	UTSW	13	56,773,563 (GRCm39)	missense	probably damaging	1.00
R9689:Tgfbi	UTSW	13	56,762,100 (GRCm39)	missense	probably damaging	1.00
R9700:Tgfbi	UTSW	13	56,778,411 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATGAGGAATTCTACCATCCCC -3'
(R):5'- GGTGCAGCCCATGTATGTTG -3'

Sequencing Primer
(F):5'- CTAACTCCTTGGCGATCTGAGG -3'
(R):5'- CAGCCCATGTATGTTGAAGTG -3'

Posted On

2014-12-04