Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Tgfbr1'

399696

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr1

Ensembl Gene

ENSMUSG00000007613

Gene Name

transforming growth factor, beta receptor I

Synonyms

TbetaR-I, ALK5, Alk-5, TbetaRI

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47353222-47414926 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 47383948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 30 (Y30*)

Ref Sequence

ENSEMBL: ENSMUSP00000123761 (fasta)

Gene Model

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

AlphaFold

Q64729

Predicted Effect

probably null
Transcript: ENSMUST00000007757
AA Change: Y95*

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: Y95*

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: Y95*

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: Y95*

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 benign
Transcript: ENSMUST00000107725

SMART Domains

Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613

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: Y30*

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: Y30*

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5134	T	C	10: 75,812,200 (GRCm39)	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Ino80d	C	A	1: 63,125,488 (GRCm39)		probably benign	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Plxnb1	C	A	9: 108,940,761 (GRCm39)		probably null	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,442,307 (GRCm39)	R43W	probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Vps45	A	G	3: 95,953,683 (GRCm39)	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		probably benign	Het

Other mutations in Tgfbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Tgfbr1	APN	4	47,383,992 (GRCm39)	missense	probably benign	0.00
IGL00757:Tgfbr1	APN	4	47,405,581 (GRCm39)	missense	probably damaging	1.00
IGL02001:Tgfbr1	APN	4	47,403,388 (GRCm39)	missense	probably damaging	1.00
IGL02207:Tgfbr1	APN	4	47,410,785 (GRCm39)	utr 3 prime	probably benign
IGL02338:Tgfbr1	APN	4	47,393,490 (GRCm39)	critical splice donor site	probably null
PIT4480001:Tgfbr1	UTSW	4	47,402,955 (GRCm39)	missense	probably benign	0.44
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm39)	nonsense	probably null
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm39)	nonsense	probably null
R1299:Tgfbr1	UTSW	4	47,396,587 (GRCm39)	critical splice donor site	probably null
R1444:Tgfbr1	UTSW	4	47,393,259 (GRCm39)	missense	probably benign
R1530:Tgfbr1	UTSW	4	47,410,688 (GRCm39)	missense	probably damaging	1.00
R1591:Tgfbr1	UTSW	4	47,403,471 (GRCm39)	missense	probably damaging	1.00
R1611:Tgfbr1	UTSW	4	47,396,526 (GRCm39)	missense	probably damaging	1.00
R2327:Tgfbr1	UTSW	4	47,402,833 (GRCm39)	missense	probably damaging	1.00
R4352:Tgfbr1	UTSW	4	47,402,863 (GRCm39)	missense	probably damaging	1.00
R4736:Tgfbr1	UTSW	4	47,383,835 (GRCm39)	missense	probably benign
R5907:Tgfbr1	UTSW	4	47,396,555 (GRCm39)	missense	probably damaging	1.00
R6462:Tgfbr1	UTSW	4	47,402,846 (GRCm39)	missense	probably damaging	1.00
R6842:Tgfbr1	UTSW	4	47,383,757 (GRCm39)	missense	probably damaging	1.00
R7017:Tgfbr1	UTSW	4	47,410,728 (GRCm39)	missense	probably damaging	0.99
R7206:Tgfbr1	UTSW	4	47,402,941 (GRCm39)	missense	probably damaging	1.00
R7402:Tgfbr1	UTSW	4	47,405,623 (GRCm39)	missense	probably damaging	1.00
R7862:Tgfbr1	UTSW	4	47,403,489 (GRCm39)	missense	probably damaging	0.99
R8210:Tgfbr1	UTSW	4	47,406,924 (GRCm39)	missense	probably benign	0.01
R8787:Tgfbr1	UTSW	4	47,405,555 (GRCm39)	missense	possibly damaging	0.94
RF013:Tgfbr1	UTSW	4	47,353,354 (GRCm39)	missense	unknown
Z1176:Tgfbr1	UTSW	4	47,353,790 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCCACCTCTGTACAAAGG -3'
(R):5'- ATCTACAACTGTGGACAGGTAAC -3'

Sequencing Primer
(F):5'- ACAAAGGATAATTTTACCTGTGAGAC -3'
(R):5'- CTCTCAACAAGCCAGGTTTGATG -3'

Posted On

2016-07-06