Mutagenetix > Incidental Mutation

Incidental Mutation 'R7297:Tgfbi'

566764

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

045401-MU

Accession Numbers

Essential gene?

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

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56757399-56787172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56779926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 492 (F492I)

Ref Sequence

ENSEMBL: ENSMUSP00000037719 (fasta)

Gene Model

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

AlphaFold

P82198

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045173
AA Change: F492I

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: F492I

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 damaging
Transcript: ENSMUST00000225600
AA Change: F492I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Abca6	C	T	11: 110,073,852 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,901 (GRCm39)	I358M	possibly damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Arap3	G	A	18: 38,106,616 (GRCm39)	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 32,993,890 (GRCm39)	R68*	probably null	Het
Arhgef4	A	T	1: 34,846,273 (GRCm39)	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,462 (GRCm39)	T472A	probably damaging	Het
Ascl1	A	T	10: 87,328,326 (GRCm39)	S209T	probably damaging	Het
Asxl1	T	C	2: 153,239,355 (GRCm39)	V382A	probably benign	Het
Atp11a	T	C	8: 12,856,774 (GRCm39)		probably null	Het
Calu	C	T	6: 29,356,554 (GRCm39)	R27*	probably null	Het
Cdh20	A	G	1: 104,898,598 (GRCm39)	T442A	probably benign	Het
Chrm3	T	A	13: 9,927,869 (GRCm39)	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,079,460 (GRCm39)	T1233A	probably benign	Het
Cwc15	G	A	9: 14,421,525 (GRCm39)	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dennd3	C	T	15: 73,429,459 (GRCm39)	T914I	probably damaging	Het
Dlx3	C	A	11: 95,011,276 (GRCm39)	Y43*	probably null	Het
Dnah17	A	T	11: 117,946,556 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,994,182 (GRCm39)	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,281,157 (GRCm39)	Q631*	probably null	Het
Dsel	T	A	1: 111,789,506 (GRCm39)	D343V	probably damaging	Het
Efcab12	T	C	6: 115,787,997 (GRCm39)	D655G	possibly damaging	Het
Epha8	T	A	4: 136,673,224 (GRCm39)	I187L	probably damaging	Het
Exosc10	A	G	4: 148,664,834 (GRCm39)	K781E	probably damaging	Het
Exosc5	T	C	7: 25,365,751 (GRCm39)	L200P	probably benign	Het
Faiml	T	C	9: 99,111,666 (GRCm39)	E131G	probably damaging	Het
Gm5145	G	A	17: 20,790,993 (GRCm39)	V124I	probably benign	Het
Grm7	T	C	6: 110,622,974 (GRCm39)	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,356,427 (GRCm39)	D35G	probably damaging	Het
Heatr1	C	T	13: 12,435,941 (GRCm39)	Q1160*	probably null	Het
Herc2	T	A	7: 55,786,406 (GRCm39)	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,224,165 (GRCm39)	I88V	probably damaging	Het
Hspa14	A	C	2: 3,499,179 (GRCm39)	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,738,662 (GRCm39)	E156A	possibly damaging	Het
Krt87	T	C	15: 101,387,528 (GRCm39)	D170G	probably benign	Het
Mas1	T	C	17: 13,060,745 (GRCm39)	Y226C	probably damaging	Het
Micall1	T	C	15: 79,005,097 (GRCm39)	F190L	unknown	Het
Msi2	A	T	11: 88,370,864 (GRCm39)	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,465,768 (GRCm39)	D27G	probably benign	Het
Nlrp9b	A	G	7: 19,783,438 (GRCm39)	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,092,896 (GRCm39)	D579G	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or8d1	G	A	9: 38,767,245 (GRCm39)	D296N	probably damaging	Het
Or8h6	A	T	2: 86,703,980 (GRCm39)	V29E	probably damaging	Het
Parp4	C	T	14: 56,885,138 (GRCm39)	P1406S	not run	Het
Pkib	A	T	10: 57,612,422 (GRCm39)	Q101L	possibly damaging	Het
Plat	C	T	8: 23,265,713 (GRCm39)	T252I	probably benign	Het
Ppm1d	A	T	11: 85,236,821 (GRCm39)	E533D	probably damaging	Het
Psd3	T	C	8: 68,573,686 (GRCm39)	K165R	probably damaging	Het
Psg29	T	A	7: 16,944,616 (GRCm39)	Y375*	probably null	Het
Pus7	A	T	5: 23,946,908 (GRCm39)	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,385,722 (GRCm39)	M181K	probably benign	Het
Rell1	A	T	5: 64,093,418 (GRCm39)	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,673,048 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,400,131 (GRCm39)	T1184M	unknown	Het
Slc27a2	T	A	2: 126,420,866 (GRCm39)	D452E	probably damaging	Het
Slc44a4	T	A	17: 35,146,888 (GRCm39)	I489N	probably damaging	Het
Slfn14	T	A	11: 83,169,821 (GRCm39)	K608*	probably null	Het
Snx15	T	A	19: 6,170,537 (GRCm39)	I301F	probably damaging	Het
Sost	C	T	11: 101,854,929 (GRCm39)	G127R	probably damaging	Het
Stt3b	A	G	9: 115,106,025 (GRCm39)	I150T	probably damaging	Het
Susd2	T	C	10: 75,478,402 (GRCm39)	D58G	probably benign	Het
Tex46	T	G	4: 136,340,212 (GRCm39)	V99G	probably damaging	Het
Tmem132c	G	A	5: 127,437,281 (GRCm39)	A257T	probably benign	Het
Trim2	A	T	3: 84,117,540 (GRCm39)	I51K	probably damaging	Het
Tsn	A	T	1: 118,228,591 (GRCm39)	Y210*	probably null	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r5	A	T	6: 56,963,204 (GRCm39)	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,293,835 (GRCm39)	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,227,119 (GRCm39)	N240D	probably benign	Het
Wbp1l	A	G	19: 46,642,839 (GRCm39)	D264G	possibly damaging	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
R2570:Tgfbi	UTSW	13	56,786,521 (GRCm39)	splice site	probably null
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
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'- GACTGACCTTGTCACAGAGTCC -3'
(R):5'- ACCAGAATTAGGTTACCTCTTGG -3'

Sequencing Primer
(F):5'- CAGAGTCCCTGTGTGATTTTACCAG -3'
(R):5'- AATTAGGTTACCTCTTGGGAAGTAG -3'

Posted On

2019-06-26