Mutagenetix > Incidental Mutation

Incidental Mutation 'R4352:Tgfbr1'

327328

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

041668-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47353222-47414926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47402863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 206 (F206S)

Ref Sequence

ENSEMBL: ENSMUSP00000103353 (fasta)

Gene Model

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

AlphaFold

Q64729

Predicted Effect

probably damaging
Transcript: ENSMUST00000007757
AA Change: F289S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: F289S

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 damaging
Transcript: ENSMUST00000044234
AA Change: F285S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: F285S

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 damaging
Transcript: ENSMUST00000107725
AA Change: F206S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: F206S

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 damaging
Transcript: ENSMUST00000126171
AA Change: F220S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: F220S

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

0.8571

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (79/82)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ankrd54	A	T	15: 78,939,662 (GRCm39)	F176I	probably benign	Het
Ano3	T	A	2: 110,576,239 (GRCm39)	E94V	possibly damaging	Het
Arid1b	A	T	17: 5,147,859 (GRCm39)	Q587L	possibly damaging	Het
Atg2a	G	A	19: 6,307,487 (GRCm39)	V1474M	probably benign	Het
Bcl2a1d	A	G	9: 88,613,552 (GRCm39)	V74A	probably damaging	Het
Bmper	A	G	9: 23,395,248 (GRCm39)	I660V	probably benign	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cds2	T	A	2: 132,105,365 (GRCm39)	M1K	probably null	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Ddx47	C	T	6: 134,995,018 (GRCm39)	T161I	probably benign	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Efcab3	T	A	11: 104,630,140 (GRCm39)	L957Q	probably null	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Eml1	A	T	12: 108,501,096 (GRCm39)		probably benign	Het
Espnl	A	T	1: 91,262,443 (GRCm39)	D296V	probably damaging	Het
Fam161a	T	G	11: 22,970,798 (GRCm39)	S109R	possibly damaging	Het
Fat3	T	G	9: 16,158,074 (GRCm39)	T1179P	possibly damaging	Het
Gfra1	A	T	19: 58,255,456 (GRCm39)	N330K	probably benign	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gm20775	A	T	Y: 10,641,648 (GRCm39)		noncoding transcript	Het
Gm5885	T	A	6: 133,508,152 (GRCm39)		noncoding transcript	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
H2-Q1	A	G	17: 35,539,919 (GRCm39)	N63D	possibly damaging	Het
Itgb2	A	T	10: 77,392,001 (GRCm39)	N358I	probably benign	Het
Jmjd1c	A	G	10: 67,080,588 (GRCm39)	T2247A	probably damaging	Het
Kcnma1	T	A	14: 23,361,720 (GRCm39)	K1036I	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrch1	G	T	14: 75,056,018 (GRCm39)	S278R	probably damaging	Het
Lrp2	C	A	2: 69,262,526 (GRCm39)		probably null	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Mpzl1	G	A	1: 165,433,376 (GRCm39)	Q36*	probably null	Het
Msantd5	A	G	11: 51,125,646 (GRCm39)	N190D	possibly damaging	Het
Npr2	T	C	4: 43,646,592 (GRCm39)	S647P	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Otogl	A	T	10: 107,705,396 (GRCm39)	C644S	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Paqr3	T	C	5: 97,247,455 (GRCm39)	T218A	probably benign	Het
Pcdh7	C	T	5: 57,879,361 (GRCm39)	S972L	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ralb	A	G	1: 119,411,282 (GRCm39)	M19T	probably benign	Het
Rcan1	A	G	16: 92,190,384 (GRCm39)	I185T	probably benign	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Rock1	T	A	18: 10,079,237 (GRCm39)	Q1077L	probably damaging	Het
Sesn3	C	T	9: 14,231,669 (GRCm39)	A200V	probably damaging	Het
Shh	T	C	5: 28,663,187 (GRCm39)	E327G	probably benign	Het
Shmt2	G	A	10: 127,354,686 (GRCm39)	A333V	probably damaging	Het
Slc15a2	T	A	16: 36,592,390 (GRCm39)	I256F	probably benign	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Taf10	A	G	7: 105,392,614 (GRCm39)		probably benign	Het
Tas2r139	T	A	6: 42,118,689 (GRCm39)	W274R	probably damaging	Het
Tbc1d20	T	A	2: 152,150,114 (GRCm39)		probably benign	Het
Tbc1d5	A	G	17: 51,089,429 (GRCm39)	S584P	probably damaging	Het
Tcstv1a	T	C	13: 120,355,407 (GRCm39)	D75G	probably damaging	Het
Tex10	T	G	4: 48,452,039 (GRCm39)	T696P	possibly damaging	Het
Tmem241	A	T	18: 12,246,496 (GRCm39)	H51Q	probably benign	Het
Trim5	A	T	7: 103,926,015 (GRCm39)	V182D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Ugp2	C	T	11: 21,279,026 (GRCm39)	V387I	probably damaging	Het
Unc45b	G	A	11: 82,804,035 (GRCm39)	D71N	probably damaging	Het
Usp34	A	T	11: 23,270,727 (GRCm39)	Y37F	possibly damaging	Het
Zfp943	A	T	17: 22,212,104 (GRCm39)	I397F	probably damaging	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
R4736:Tgfbr1	UTSW	4	47,383,835 (GRCm39)	missense	probably benign
R5180:Tgfbr1	UTSW	4	47,383,948 (GRCm39)	nonsense	probably null
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'- AAGGTGGCGTCATGTTGCAG -3'
(R):5'- AAACCACTGTGTCGAAAGGG -3'

Sequencing Primer
(F):5'- CAGGTGTGTGTTCAAGAGCGATAG -3'
(R):5'- ACATATCTCCAGTTAGGTTTCACG -3'

Posted On

2015-07-07