Mutagenetix > Incidental Mutations

Incidental Mutation 'R0097:Tgfbr1'

41147

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr1

Ensembl Gene

ENSMUSG00000007613

Gene Name

transforming growth factor, beta receptor I

Synonyms

TbetaRI, ALK5, TbetaR-I, Alk-5

MMRRC Submission

038383-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47353222-47414931 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 47403451 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 283 (L283*)

Ref Sequence

ENSEMBL: ENSMUSP00000123761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]

Predicted Effect

probably null
Transcript: ENSMUST00000007757
AA Change: L352*

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: L352*

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	13	24	N/A	INTRINSIC
Pfam:Activin_recp	30	110	2.7e-16	PFAM
transmembrane domain	126	148	N/A	INTRINSIC
GS	175	205	1.01e-14	SMART
Blast:STYKc	207	492	7e-31	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000044234
AA Change: L348*

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: L348*

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	13	24	N/A	INTRINSIC
Pfam:Activin_recp	30	110	1.6e-14	PFAM
transmembrane domain	122	144	N/A	INTRINSIC
GS	171	201	1.01e-14	SMART
Blast:STYKc	203	488	8e-31	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000107725
AA Change: L269*

SMART Domains

Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: L269*

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
GS	92	122	1.01e-14	SMART
Blast:STYKc	124	409	3e-31	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000126171
AA Change: L283*

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: L283*

Domain	Start	End	E-Value	Type
PDB:3KFD\|L	1	45	3e-26	PDB
transmembrane domain	57	79	N/A	INTRINSIC
GS	106	136	1.01e-14	SMART
Blast:STYKc	138	423	3e-31	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,412,480	I353K	probably benign	Het
5830473C10Rik	T	A	5: 90,584,936	S535R	probably benign	Het
Arfgap2	T	A	2: 91,274,815	V422E	probably benign	Het
Baz1b	T	C	5: 135,198,259	S105P	probably benign	Het
Bbs10	T	C	10: 111,298,844	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,100,622	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,146,052	A180V	probably benign	Het
Cldnd1	A	G	16: 58,729,715	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,047,658		probably benign	Het
Cyp2c54	G	T	19: 40,047,659		probably benign	Het
Dab2ip	G	A	2: 35,718,916	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,535,878		probably benign	Het
Dmrta1	A	T	4: 89,688,872	R188S	probably benign	Het
Eml3	T	A	19: 8,936,651	F465L	probably benign	Het
Gm13128	T	C	4: 144,331,287	S155P	probably benign	Het
Gm9938	T	A	19: 23,724,464		probably benign	Het
Gpr87	G	A	3: 59,179,085	T333I	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,844,497	Y59*	probably null	Het
Lzic	A	G	4: 149,488,076	E41G	probably damaging	Het
Mprip	T	A	11: 59,758,491	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,348,376	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,155,762	M3121K	probably damaging	Het
Myocd	T	A	11: 65,179,014	M667L	possibly damaging	Het
Narfl	T	C	17: 25,777,002	S67P	possibly damaging	Het
Ncam2	A	G	16: 81,517,537	D467G	probably damaging	Het
Neb	T	C	2: 52,204,894	N4882S	probably damaging	Het
Neu2	A	G	1: 87,597,466	D391G	probably benign	Het
Nol4	C	A	18: 22,719,141	A456S	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,840	V305A	probably benign	Het
Padi6	C	T	4: 140,730,957	V513M	probably benign	Het
Pign	G	A	1: 105,587,976		probably benign	Het
Plpp2	T	C	10: 79,530,537	E91G	possibly damaging	Het
Pnp	T	A	14: 50,951,416	V222D	probably damaging	Het
Pnp2	C	T	14: 50,963,501	R148C	probably benign	Het
Prss38	A	G	11: 59,375,608	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,682,940	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,490,489	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rsl1	A	C	13: 67,181,902	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,800,055	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,771,456	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,403,978	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,032,860	I237F	probably damaging	Het
Svs3b	T	C	2: 164,256,239	E54G	probably damaging	Het
T	A	T	17: 8,439,901		probably benign	Het
Tenm4	A	T	7: 96,892,926	D1882V	probably damaging	Het
Tppp3	C	T	8: 105,467,922	A149T	probably benign	Het
Ubp1	T	C	9: 113,973,507		probably benign	Het
Ushbp1	C	T	8: 71,390,713	C314Y	probably damaging	Het
Vav2	A	T	2: 27,299,362		probably benign	Het
Vmn1r228	T	C	17: 20,776,363	M298V	probably benign	Het
Zmpste24	A	T	4: 121,095,543		probably benign	Het

Other mutations in Tgfbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Tgfbr1	APN	4	47383992	missense	probably benign	0.00
IGL00757:Tgfbr1	APN	4	47405581	missense	probably damaging	1.00
IGL02001:Tgfbr1	APN	4	47403388	missense	probably damaging	1.00
IGL02207:Tgfbr1	APN	4	47410785	utr 3 prime	probably benign
IGL02338:Tgfbr1	APN	4	47393490	critical splice donor site	probably null
PIT4480001:Tgfbr1	UTSW	4	47402955	missense	probably benign	0.44
R0097:Tgfbr1	UTSW	4	47403451	nonsense	probably null
R1299:Tgfbr1	UTSW	4	47396587	critical splice donor site	probably null
R1444:Tgfbr1	UTSW	4	47393259	missense	probably benign
R1530:Tgfbr1	UTSW	4	47410688	missense	probably damaging	1.00
R1591:Tgfbr1	UTSW	4	47403471	missense	probably damaging	1.00
R1611:Tgfbr1	UTSW	4	47396526	missense	probably damaging	1.00
R2327:Tgfbr1	UTSW	4	47402833	missense	probably damaging	1.00
R4352:Tgfbr1	UTSW	4	47402863	missense	probably damaging	1.00
R4736:Tgfbr1	UTSW	4	47383835	missense	probably benign
R5180:Tgfbr1	UTSW	4	47383948	nonsense	probably null
R5907:Tgfbr1	UTSW	4	47396555	missense	probably damaging	1.00
R6462:Tgfbr1	UTSW	4	47402846	missense	probably damaging	1.00
R6842:Tgfbr1	UTSW	4	47383757	missense	probably damaging	1.00
R7017:Tgfbr1	UTSW	4	47410728	missense	probably damaging	0.99
R7206:Tgfbr1	UTSW	4	47402941	missense	probably damaging	1.00
R7402:Tgfbr1	UTSW	4	47405623	missense	probably damaging	1.00
R7862:Tgfbr1	UTSW	4	47403489	missense	probably damaging	0.99
R7945:Tgfbr1	UTSW	4	47403489	missense	probably damaging	0.99
RF013:Tgfbr1	UTSW	4	47353354	missense	unknown
Z1176:Tgfbr1	UTSW	4	47353790	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTCGACACAGTGGTTTGCTGAG -3'
(R):5'- TCCCGAGGATCAGAAAAGGGTTCC -3'

Sequencing Primer
(F):5'- ATAGGTGATGTAGCTCAAGTGC -3'
(R):5'- GGGAGGGTTGGTAACATTAACC -3'

Posted On

2013-05-23