Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Tgfbi'

369733

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

042433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56757399-56787172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56779933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 494 (M494T)

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: M494T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: M494T

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 benign
Transcript: ENSMUST00000225600
AA Change: M494T

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226024

Meta Mutation Damage Score

0.2638

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,483,026 (GRCm39)	N327K	probably damaging	Het
Ank2	T	C	3: 126,730,410 (GRCm39)	T675A	probably benign	Het
Arap3	T	C	18: 38,106,296 (GRCm39)	T1516A	probably benign	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
C7	A	G	15: 5,088,887 (GRCm39)	V18A	probably benign	Het
Caap1	A	G	4: 94,389,497 (GRCm39)	V279A	probably benign	Het
Cacnb2	A	G	2: 14,879,591 (GRCm39)	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,713,458 (GRCm39)	S1166P	probably damaging	Het
Chgb	A	T	2: 132,635,219 (GRCm39)	H387L	probably benign	Het
Chp2	G	A	7: 121,820,123 (GRCm39)	R91Q	probably damaging	Het
Chuk	C	A	19: 44,065,686 (GRCm39)	G703*	probably null	Het
Clmn	T	C	12: 104,751,825 (GRCm39)	D210G	probably damaging	Het
Cyp4f18	A	G	8: 72,749,839 (GRCm39)	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,676,483 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,028,256 (GRCm39)	V411D	unknown	Het
Dkk2	C	T	3: 131,879,546 (GRCm39)	A75V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnase2a	T	C	8: 85,636,506 (GRCm39)	V187A	probably benign	Het
Dusp19	A	G	2: 80,461,289 (GRCm39)	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,477 (GRCm39)	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,660 (GRCm39)	M119V	possibly damaging	Het
Ice2	C	T	9: 69,314,400 (GRCm39)	R50C	probably damaging	Het
Ifi208	A	T	1: 173,510,403 (GRCm39)	E186V	probably damaging	Het
Ift122	A	G	6: 115,858,517 (GRCm39)	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223 (GRCm39)	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,365,582 (GRCm39)	C209S	probably benign	Het
Kmt2a	G	A	9: 44,732,553 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 102,980,739 (GRCm39)	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592 (GRCm39)	T247N	probably damaging	Het
Mctp2	T	G	7: 71,909,097 (GRCm39)	Q72P	possibly damaging	Het
Miga1	T	C	3: 151,996,443 (GRCm39)	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,291,641 (GRCm39)	N19K	probably benign	Het
Mylk	G	A	16: 34,715,295 (GRCm39)	R541Q	probably damaging	Het
Nav3	T	C	10: 109,659,413 (GRCm39)	T735A	probably benign	Het
Nlgn1	T	A	3: 25,490,194 (GRCm39)	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,150,233 (GRCm39)	E613D	probably benign	Het
Nuf2	A	G	1: 169,338,037 (GRCm39)	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,240,102 (GRCm39)	V28A	probably benign	Het
Odf2	A	C	2: 29,792,252 (GRCm39)	E155D	possibly damaging	Het
Odr4	A	G	1: 150,250,597 (GRCm39)	C294R	probably damaging	Het
Or2ag13	G	A	7: 106,473,444 (GRCm39)	P3S	probably benign	Het
Or8s16	T	C	15: 98,210,561 (GRCm39)	N290S	probably damaging	Het
Otud7a	T	C	7: 63,379,658 (GRCm39)		probably null	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,828,247 (GRCm39)	V232I	probably damaging	Het
Plcb3	A	G	19: 6,940,352 (GRCm39)	I439T	possibly damaging	Het
Rag1	A	G	2: 101,473,861 (GRCm39)	V427A	probably damaging	Het
Ranbp10	A	T	8: 106,552,757 (GRCm39)	C128*	probably null	Het
Rbm8a2	A	G	1: 175,806,024 (GRCm39)	V151A	probably damaging	Het
S100pbp	A	G	4: 129,044,726 (GRCm39)		probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Sgo2b	T	C	8: 64,384,448 (GRCm39)	I183V	probably benign	Het
Slc25a25	A	T	2: 32,310,422 (GRCm39)	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,950,218 (GRCm39)	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,758,009 (GRCm39)	I183F	probably benign	Het
Srrm4	T	A	5: 116,613,249 (GRCm39)	K141N	unknown	Het
Tbc1d20	T	C	2: 152,153,909 (GRCm39)		probably benign	Het
Tdpoz6	C	T	3: 93,599,593 (GRCm39)	V259M	probably benign	Het
Tep1	A	G	14: 51,078,759 (GRCm39)	L1498P	probably damaging	Het
Tox	A	G	4: 6,823,033 (GRCm39)	S95P	probably benign	Het
Tpr	G	A	1: 150,274,359 (GRCm39)	V163I	probably benign	Het
Trpm7	A	G	2: 126,700,412 (GRCm39)	S2P	probably damaging	Het
Ttn	A	G	2: 76,546,429 (GRCm39)	M32328T	probably damaging	Het
Vps39	A	T	2: 120,169,040 (GRCm39)	N289K	probably benign	Het
Xdh	C	T	17: 74,213,210 (GRCm39)	A847T	probably damaging	Het
Xndc1	G	A	7: 101,722,523 (GRCm39)	G63R	probably null	Het
Ythdc2	A	G	18: 45,018,307 (GRCm39)	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,677,864 (GRCm39)	K949N	probably damaging	Het
Zp3r	A	T	1: 130,526,649 (GRCm39)	Y185N	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
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'- TGTGATTTTACCAGAGCCCCTC -3'
(R):5'- TAACCATGGATGATCACACCAG -3'

Sequencing Primer
(F):5'- CCCACCCTTCCCTGAGG -3'
(R):5'- CCAGTGTGTCACCAGAATTAGGTTAC -3'

Posted On

2016-02-04