Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Tgfbi'

533773

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

044923-MU

Accession Numbers

Essential gene?

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

Stock #

R6810 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

56757399-56787172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56785016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 658 (S658P)

Ref Sequence

ENSEMBL: ENSMUSP00000037719 (fasta)

Gene Model

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

AlphaFold

P82198

Predicted Effect

probably benign
Transcript: ENSMUST00000045173
AA Change: S658P

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

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: S658P

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	T	8: 95,660,570 (GRCm39)	T70S	probably damaging	Het
Adora1	T	C	1: 134,161,777 (GRCm39)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,180,590 (GRCm39)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,226,317 (GRCm39)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,919,215 (GRCm39)	S2015N	possibly damaging	Het
C7	A	G	15: 5,037,136 (GRCm39)	F581L	probably damaging	Het
Cd27	A	T	6: 125,210,627 (GRCm39)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,535,456 (GRCm39)	V274A	probably benign	Het
Cenpe	A	G	3: 134,949,583 (GRCm39)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm39)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,503,764 (GRCm39)	V945M	probably damaging	Het
Dio1	A	G	4: 107,154,922 (GRCm39)	V118A	probably damaging	Het
Dst	C	T	1: 34,251,379 (GRCm39)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,971,672 (GRCm39)	M165K	probably benign	Het
Eif5b	A	G	1: 38,085,741 (GRCm39)	I929V	probably benign	Het
F5	T	A	1: 164,014,471 (GRCm39)	S581T	probably damaging	Het
Fanca	A	C	8: 124,013,216 (GRCm39)	I761S	probably damaging	Het
Fat2	T	C	11: 55,173,067 (GRCm39)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,299,929 (GRCm39)	L281P	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,779,803 (GRCm39)	D651G	probably damaging	Het
Hook3	A	C	8: 26,522,450 (GRCm39)		probably null	Het
Ivd	G	T	2: 118,700,242 (GRCm39)	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,272,559 (GRCm39)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,070,626 (GRCm39)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,622,476 (GRCm39)	I45F	probably damaging	Het
Nell2	T	C	15: 95,139,468 (GRCm39)	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,360,996 (GRCm39)	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,069,754 (GRCm39)	F552I	probably damaging	Het
Or51g1	A	C	7: 102,634,042 (GRCm39)	S110A	probably damaging	Het
Or5j3	G	A	2: 86,128,267 (GRCm39)	A36T	probably benign	Het
Pcdhga12	T	C	18: 37,900,232 (GRCm39)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,848,926 (GRCm39)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,569,088 (GRCm39)		probably null	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,287,457 (GRCm39)	V480A	probably benign	Het
Psrc1	A	T	3: 108,292,664 (GRCm39)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,862,516 (GRCm39)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,642,760 (GRCm39)		probably null	Het
Semp2l2b	C	T	10: 21,942,616 (GRCm39)	G455R	probably damaging	Het
Skint6	T	C	4: 112,805,577 (GRCm39)		probably null	Het
Slc24a1	A	G	9: 64,855,605 (GRCm39)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,609 (GRCm39)	V432E	probably benign	Het
Syne2	C	T	12: 75,989,659 (GRCm39)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tes	C	A	6: 17,104,651 (GRCm39)	N377K	probably benign	Het
Tfip11	T	A	5: 112,481,463 (GRCm39)	I452N	probably benign	Het
Tmx4	A	C	2: 134,462,594 (GRCm39)	D112E	probably damaging	Het
Tnn	G	T	1: 159,932,412 (GRCm39)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,850,815 (GRCm39)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,908,755 (GRCm39)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,600,296 (GRCm39)	K440R	probably benign	Het
Zfp707	T	A	15: 75,846,748 (GRCm39)	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,689,844 (GRCm39)	Y472C	probably 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
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'- AAAAGGCCCGGATGTTGTG -3'
(R):5'- GTAAGCTCTAACAGGCTTGGC -3'

Sequencing Primer
(F):5'- CCCGGATGTTGTGTGTATACC -3'
(R):5'- CTGAAGTAACCAAGACATTGCAG -3'

Posted On

2018-09-12