Mutagenetix > Incidental Mutation

Incidental Mutation 'R1940:Tgfbi'

213955

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

039958-MU

Accession Numbers

Essential gene?

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

Stock #

R1940 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

56757399-56787172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56762127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 70 (Q70L)

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: Q70L

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: Q70L

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: ENSMUST00000223661

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225600
AA Change: Q70L

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1718

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.7%

Validation Efficiency

98% (108/110)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,032,832 (GRCm39)		probably benign	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam24	A	T	8: 41,134,400 (GRCm39)	R623*	probably null	Het
Agbl2	T	A	2: 90,641,626 (GRCm39)	L752Q	probably damaging	Het
Ankrd26	A	T	6: 118,488,654 (GRCm39)	F1335Y	probably damaging	Het
Ankrd34a	A	G	3: 96,505,992 (GRCm39)	S399G	probably benign	Het
Aoc1l3	A	T	6: 48,967,007 (GRCm39)	K652*	probably null	Het
Ap3d1	G	A	10: 80,545,607 (GRCm39)	P1041S	probably benign	Het
Arid3b	A	T	9: 57,703,431 (GRCm39)	M466K	possibly damaging	Het
Arsj	T	C	3: 126,231,995 (GRCm39)	I247T	probably damaging	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Azin2	C	T	4: 128,844,577 (GRCm39)		probably null	Het
Bcat2	T	C	7: 45,237,792 (GRCm39)	Y313H	possibly damaging	Het
Cables2	A	G	2: 179,901,873 (GRCm39)	V465A	probably damaging	Het
Ccdc60	G	A	5: 116,264,224 (GRCm39)	H517Y	probably damaging	Het
Cd55b	A	T	1: 130,345,843 (GRCm39)		probably null	Het
Cdc40	G	A	10: 40,759,067 (GRCm39)		probably benign	Het
Cdh20	G	A	1: 109,976,754 (GRCm39)	V140I	probably benign	Het
Cdhr18	A	T	14: 13,828,582 (GRCm38)	M726K	probably null	Het
Cfi	T	C	3: 129,652,477 (GRCm39)		probably benign	Het
Chit1	G	A	1: 134,073,156 (GRCm39)		probably null	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,088,380 (GRCm39)	S148P	possibly damaging	Het
Clmn	G	A	12: 104,756,361 (GRCm39)	T163I	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Col19a1	A	T	1: 24,303,831 (GRCm39)	C1117*	probably null	Het
Cplane1	T	A	15: 8,263,336 (GRCm39)	S2496R	probably damaging	Het
Cyp2d10	T	A	15: 82,289,495 (GRCm39)	I206F	probably benign	Het
Ddrgk1	G	T	2: 130,505,480 (GRCm39)		probably benign	Het
Ddx18	A	T	1: 121,482,953 (GRCm39)	V611D	probably damaging	Het
Dnah8	A	T	17: 30,950,181 (GRCm39)	H2000L	probably damaging	Het
Duox1	T	C	2: 122,156,465 (GRCm39)	V464A	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eif4enif1	A	G	11: 3,193,279 (GRCm39)	H857R	probably damaging	Het
Elmo2	A	G	2: 165,133,970 (GRCm39)		probably benign	Het
Fam171b	CCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGC	2: 83,643,218 (GRCm39)		probably benign	Het
Glrx	A	G	13: 75,988,256 (GRCm39)	I57V	probably benign	Het
Golm1	A	T	13: 59,790,051 (GRCm39)		probably benign	Het
Grm3	G	A	5: 9,561,682 (GRCm39)	R723W	probably damaging	Het
Gsta3	G	A	1: 21,327,601 (GRCm39)	R45Q	probably benign	Het
Gtf3c3	A	C	1: 54,468,117 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Hoxa10	C	A	6: 52,211,350 (GRCm39)	G189C	possibly damaging	Het
Hs3st3b1	T	C	11: 63,780,569 (GRCm39)	D186G	probably benign	Het
Hscb	G	T	5: 110,983,926 (GRCm39)	H63N	probably benign	Het
Itpr3	A	G	17: 27,330,191 (GRCm39)	E1603G	probably damaging	Het
Ivl	T	A	3: 92,480,056 (GRCm39)	H3L	probably benign	Het
Klhl26	C	A	8: 70,904,911 (GRCm39)	R252L	probably damaging	Het
Krt31	T	A	11: 99,939,069 (GRCm39)	T251S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lhx3	T	C	2: 26,093,974 (GRCm39)	D83G	probably benign	Het
Lss	C	A	10: 76,381,296 (GRCm39)	N427K	possibly damaging	Het
Mettl24	G	A	10: 40,613,722 (GRCm39)	A154T	probably benign	Het
Mgat4a	A	T	1: 37,575,118 (GRCm39)		probably null	Het
Moxd2	C	T	6: 40,860,466 (GRCm39)	R326Q	probably damaging	Het
Mpdz	G	A	4: 81,279,680 (GRCm39)	A669V	probably benign	Het
Msra	G	A	14: 64,522,505 (GRCm39)		probably benign	Het
Muc13	A	T	16: 33,628,281 (GRCm39)	T344S	probably benign	Het
Myo3b	T	C	2: 70,088,419 (GRCm39)	I866T	probably benign	Het
Nbea	T	C	3: 55,860,521 (GRCm39)	S1852G	possibly damaging	Het
Ncf2	A	G	1: 152,709,815 (GRCm39)		probably benign	Het
Nfyc	C	A	4: 120,630,861 (GRCm39)		probably benign	Het
Nop2	T	C	6: 125,111,597 (GRCm39)	V110A	probably benign	Het
Nrg2	C	A	18: 36,329,897 (GRCm39)		probably benign	Het
Nrl	A	G	14: 55,759,892 (GRCm39)	Y12H	probably damaging	Het
Nrxn3	T	C	12: 89,227,151 (GRCm39)	V635A	probably damaging	Het
Or4d11	A	C	19: 12,013,275 (GRCm39)	V277G	probably benign	Het
Or6b2b	T	A	1: 92,419,457 (GRCm39)	T7S	probably benign	Het
Or8k41	T	A	2: 86,313,703 (GRCm39)	K128*	probably null	Het
Or9g8	T	A	2: 85,607,515 (GRCm39)	S196T	probably benign	Het
Papolg	A	T	11: 23,817,279 (GRCm39)	N639K	probably benign	Het
Paqr4	T	C	17: 23,956,638 (GRCm39)	I242V	probably damaging	Het
Pramel6	A	T	2: 87,339,076 (GRCm39)	K92M	probably damaging	Het
Prg4	T	C	1: 150,331,774 (GRCm39)	T300A	possibly damaging	Het
Ptprb	A	T	10: 116,155,515 (GRCm39)		probably benign	Het
Rab28	A	T	5: 41,783,133 (GRCm39)	S216T	probably benign	Het
Rrp1b	A	T	17: 32,275,819 (GRCm39)	R455S	possibly damaging	Het
Sash1	A	T	10: 8,605,696 (GRCm39)	M898K	probably benign	Het
Scn8a	C	T	15: 100,868,085 (GRCm39)	T310I	probably benign	Het
Secisbp2l	C	A	2: 125,582,259 (GRCm39)	D1066Y	probably damaging	Het
Sipa1l2	A	G	8: 126,206,887 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,036,113 (GRCm39)	T662A	probably benign	Het
Slc12a4	T	C	8: 106,672,669 (GRCm39)	I749V	probably benign	Het
Slc22a27	A	G	19: 7,887,092 (GRCm39)	S266P	probably damaging	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slit1	T	A	19: 41,619,215 (GRCm39)	N762I	probably damaging	Het
Spata31d1b	C	A	13: 59,865,835 (GRCm39)	D994E	possibly damaging	Het
Sphk1	A	G	11: 116,426,676 (GRCm39)	I204V	probably benign	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tlr9	T	C	9: 106,101,846 (GRCm39)	L379P	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Tra2b	A	G	16: 22,073,795 (GRCm39)		probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trnau1ap	A	G	4: 132,049,114 (GRCm39)	Y30H	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ush2a	A	G	1: 188,683,758 (GRCm39)	D4979G	probably null	Het
Usp50	C	T	2: 126,619,943 (GRCm39)	R123Q	probably benign	Het
Vmn2r117	A	T	17: 23,696,454 (GRCm39)	Y318N	probably damaging	Het
Whamm	C	T	7: 81,228,047 (GRCm39)	T304I	probably null	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Ythdf3	A	G	3: 16,259,256 (GRCm39)	N468D	possibly damaging	Het
Zbtb17	T	C	4: 141,192,859 (GRCm39)	I486T	possibly damaging	Het
Zfp3	T	C	11: 70,662,202 (GRCm39)	S54P	probably benign	Het
Zscan10	A	T	17: 23,828,826 (GRCm39)	H379L	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
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
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'- AGACCCTGCCAGAATTTACC -3'
(R):5'- CCATTGGCTGACTCACTTACAC -3'

Sequencing Primer
(F):5'- TGCCAGAATTTACCCCAAACC -3'
(R):5'- TGGCTGACTCACTTACACACACAC -3'

Posted On

2014-07-14