Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Tgfbr1'

603318

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF013 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

47353222-47414931 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47353354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 15 (I15V)

Ref Sequence

ENSEMBL: ENSMUSP00000007757 (fasta)

Gene Model

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

AlphaFold

Q64729

Predicted Effect

unknown
Transcript: ENSMUST00000007757
AA Change: I15V

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: I15V

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

unknown
Transcript: ENSMUST00000044234
AA Change: I15V

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: I15V

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: ENSMUST00000126171

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831 (GRCm38)		probably benign	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Flvcr2	T	A	12: 85,747,186 (GRCm38)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Mboat7	T	A	7: 3,691,857 (GRCm38)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666 (GRCm38)	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tex55	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753 (GRCm38)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	Het

Other mutations in Tgfbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Tgfbr1	APN	4	47,383,992 (GRCm38)	missense	probably benign	0.00
IGL00757:Tgfbr1	APN	4	47,405,581 (GRCm38)	missense	probably damaging	1.00
IGL02001:Tgfbr1	APN	4	47,403,388 (GRCm38)	missense	probably damaging	1.00
IGL02207:Tgfbr1	APN	4	47,410,785 (GRCm38)	utr 3 prime	probably benign
IGL02338:Tgfbr1	APN	4	47,393,490 (GRCm38)	critical splice donor site	probably null
PIT4480001:Tgfbr1	UTSW	4	47,402,955 (GRCm38)	missense	probably benign	0.44
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm38)	nonsense	probably null
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm38)	nonsense	probably null
R1299:Tgfbr1	UTSW	4	47,396,587 (GRCm38)	critical splice donor site	probably null
R1444:Tgfbr1	UTSW	4	47,393,259 (GRCm38)	missense	probably benign
R1530:Tgfbr1	UTSW	4	47,410,688 (GRCm38)	missense	probably damaging	1.00
R1591:Tgfbr1	UTSW	4	47,403,471 (GRCm38)	missense	probably damaging	1.00
R1611:Tgfbr1	UTSW	4	47,396,526 (GRCm38)	missense	probably damaging	1.00
R2327:Tgfbr1	UTSW	4	47,402,833 (GRCm38)	missense	probably damaging	1.00
R4352:Tgfbr1	UTSW	4	47,402,863 (GRCm38)	missense	probably damaging	1.00
R4736:Tgfbr1	UTSW	4	47,383,835 (GRCm38)	missense	probably benign
R5180:Tgfbr1	UTSW	4	47,383,948 (GRCm38)	nonsense	probably null
R5907:Tgfbr1	UTSW	4	47,396,555 (GRCm38)	missense	probably damaging	1.00
R6462:Tgfbr1	UTSW	4	47,402,846 (GRCm38)	missense	probably damaging	1.00
R6842:Tgfbr1	UTSW	4	47,383,757 (GRCm38)	missense	probably damaging	1.00
R7017:Tgfbr1	UTSW	4	47,410,728 (GRCm38)	missense	probably damaging	0.99
R7206:Tgfbr1	UTSW	4	47,402,941 (GRCm38)	missense	probably damaging	1.00
R7402:Tgfbr1	UTSW	4	47,405,623 (GRCm38)	missense	probably damaging	1.00
R7862:Tgfbr1	UTSW	4	47,403,489 (GRCm38)	missense	probably damaging	0.99
R8210:Tgfbr1	UTSW	4	47,406,924 (GRCm38)	missense	probably benign	0.01
R8787:Tgfbr1	UTSW	4	47,405,555 (GRCm38)	missense	possibly damaging	0.94
Z1176:Tgfbr1	UTSW	4	47,353,790 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCGAGCAGTTACAAAGGGC -3'
(R):5'- CATTTAGGCAGTGGAATCAGGG -3'

Sequencing Primer
(F):5'- CAGTTACAAAGGGCCGGAGC -3'
(R):5'- TGGAATCAGGGGGCCAC -3'

Posted On

2019-12-04