Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02021:Tgfbi'

183974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgfbi

Ensembl Gene

ENSMUSG00000035493

Gene Name

transforming growth factor, beta induced

Synonyms

68kDa, bIG-h3, Beta-ig

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02021

Quality Score

Status

Chromosome

Chromosomal Location

56609523-56639562 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56631353 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 463 (L463Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153546 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045173
AA Change: L463Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: L463Q

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

noncoding transcript
Transcript: ENSMUST00000225300

Predicted Effect

probably damaging
Transcript: ENSMUST00000225600
AA Change: L463Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226024

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	G	A	12: 3,407,890		probably benign	Het
Adam10	C	T	9: 70,743,909	T72I	possibly damaging	Het
Adam26b	T	A	8: 43,519,872	M698L	probably benign	Het
Ankrd27	A	T	7: 35,614,456	H404L	probably damaging	Het
Atp1a1	T	C	3: 101,594,208	S60G	probably benign	Het
Bcat1	T	C	6: 145,047,289		probably benign	Het
Cd177	G	A	7: 24,745,206	A650V	probably benign	Het
Cmya5	T	C	13: 93,094,549	N1344D	probably benign	Het
Ctsd	G	T	7: 142,385,476	L71I	probably damaging	Het
Dctn2	T	C	10: 127,275,057		probably null	Het
Ddr1	G	A	17: 35,683,480	A801V	probably damaging	Het
Duoxa1	A	G	2: 122,304,646	F251S	probably benign	Het
Fcho1	A	C	8: 71,721,275	S2A	probably benign	Het
Gm4861	T	C	3: 137,552,110		probably null	Het
Gm4922	C	A	10: 18,784,477	G166W	probably damaging	Het
Hic2	A	G	16: 17,258,753	E482G	probably benign	Het
Hoxa5	C	T	6: 52,202,657	R246K	probably damaging	Het
Ipo11	A	T	13: 106,857,237	F721I	probably damaging	Het
Lama1	A	T	17: 67,821,626	S2993C	probably damaging	Het
Lonp2	T	A	8: 86,708,971	S612T	probably benign	Het
Lpar5	T	G	6: 125,081,992	Y225*	probably null	Het
Map4k3	A	G	17: 80,609,826	Y574H	probably damaging	Het
Msantd4	A	G	9: 4,385,163	E296G	probably damaging	Het
Ncs1	A	G	2: 31,284,165	D109G	probably damaging	Het
Nnt	T	C	13: 119,336,247		probably benign	Het
Nr1h5	T	C	3: 102,947,742		probably benign	Het
Olfr1288	A	G	2: 111,479,480	D232G	probably benign	Het
Olfr704	A	T	7: 106,865,489	K170*	probably null	Het
Plk4	A	G	3: 40,810,708	D595G	probably damaging	Het
Rbm17	C	A	2: 11,595,438		probably benign	Het
Slc24a3	T	A	2: 145,518,916	I193N	probably damaging	Het
St5	T	C	7: 109,557,372	Y57C	probably damaging	Het
Stat5a	G	T	11: 100,883,889	V759F	probably damaging	Het
Tigar	G	T	6: 127,089,290	A95E	probably damaging	Het
Tph1	A	G	7: 46,656,997	I180T	possibly damaging	Het
Usp22	T	A	11: 61,154,499	Y517F	probably damaging	Het
Vmn2r105	A	C	17: 20,227,895	I222M	possibly damaging	Het
Wapl	A	G	14: 34,722,336	I582V	probably benign	Het
Zfp217	A	G	2: 170,115,149	V643A	probably benign	Het

Other mutations in Tgfbi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Tgfbi	APN	13	56630595	missense	probably benign	0.41
IGL02325:Tgfbi	APN	13	56631230	missense	probably benign	0.00
PIT4486001:Tgfbi	UTSW	13	56629794	missense	probably damaging	0.98
R0008:Tgfbi	UTSW	13	56629774	missense	probably benign	0.00
R0122:Tgfbi	UTSW	13	56627968	missense	probably damaging	1.00
R0389:Tgfbi	UTSW	13	56629702	missense	probably benign	0.02
R0419:Tgfbi	UTSW	13	56632193	splice site	probably benign
R0432:Tgfbi	UTSW	13	56632191	splice site	probably benign
R0671:Tgfbi	UTSW	13	56638726	missense	probably null	1.00
R0825:Tgfbi	UTSW	13	56638710	splice site	probably benign
R1263:Tgfbi	UTSW	13	56630655	missense	probably damaging	1.00
R1597:Tgfbi	UTSW	13	56632191	splice site	probably benign
R1864:Tgfbi	UTSW	13	56632881	missense	probably benign	0.16
R1940:Tgfbi	UTSW	13	56614314	missense	possibly damaging	0.92
R2570:Tgfbi	UTSW	13	56638708	splice site	probably null
R3111:Tgfbi	UTSW	13	56609734	missense	probably damaging	1.00
R3613:Tgfbi	UTSW	13	56625726	missense	probably damaging	1.00
R4815:Tgfbi	UTSW	13	56632120	missense	probably benign	0.45
R5847:Tgfbi	UTSW	13	56636605	missense	possibly damaging	0.94
R6314:Tgfbi	UTSW	13	56626163	missense	probably benign	0.01
R6810:Tgfbi	UTSW	13	56637203	missense	probably benign
R6821:Tgfbi	UTSW	13	56626137	missense	possibly damaging	0.95
R6943:Tgfbi	UTSW	13	56637176	missense	possibly damaging	0.77
R7165:Tgfbi	UTSW	13	56628016	missense	probably damaging	0.99
R7297:Tgfbi	UTSW	13	56632113	missense	possibly damaging	0.74
R7770:Tgfbi	UTSW	13	56632844	splice site	probably null
R7910:Tgfbi	UTSW	13	56632184	missense	probably damaging	1.00
R7991:Tgfbi	UTSW	13	56632184	missense	probably damaging	1.00

Posted On

2014-05-07