Mutagenetix > Incidental Mutation

Incidental Mutation 'R8210:Tgfbr1'

636107

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

067633-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47353222-47414926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47406924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 420 (I420F)

Ref Sequence

ENSEMBL: ENSMUSP00000007757 (fasta)

Gene Model

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

AlphaFold

Q64729

Predicted Effect

probably benign
Transcript: ENSMUST00000007757
AA Change: I420F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: I420F

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 benign
Transcript: ENSMUST00000044234
AA Change: I416F

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: I416F

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
AA Change: I337F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: I337F

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 benign
Transcript: ENSMUST00000126171
AA Change: I351F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: I351F

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,517,083 (GRCm39)	P577S	probably damaging	Het
Adal	T	C	2: 120,985,236 (GRCm39)	V269A	possibly damaging	Het
Adam33	T	C	2: 130,898,250 (GRCm39)	T155A	probably benign	Het
Adgre1	A	T	17: 57,752,061 (GRCm39)	E603V	possibly damaging	Het
Adgrf4	T	C	17: 42,978,441 (GRCm39)	T301A	probably damaging	Het
Agtpbp1	G	T	13: 59,630,385 (GRCm39)	A782E	possibly damaging	Het
Ank3	A	T	10: 69,811,925 (GRCm39)	K1197N	possibly damaging	Het
Anxa9	A	T	3: 95,213,207 (GRCm39)	D46E	probably damaging	Het
Atg9a	T	C	1: 75,161,927 (GRCm39)	T540A	probably damaging	Het
Atg9a	A	G	1: 75,163,009 (GRCm39)	Y364H	probably damaging	Het
Bltp1	A	C	3: 37,067,030 (GRCm39)	E73A		Het
Cd300c2	C	T	11: 114,891,634 (GRCm39)	G80D	possibly damaging	Het
Cebpz	T	C	17: 79,230,685 (GRCm39)	E844G	probably benign	Het
Celsr1	T	C	15: 85,863,436 (GRCm39)	I1199V	probably benign	Het
Cftr	A	G	6: 18,220,696 (GRCm39)	N189S	probably damaging	Het
Dhrs13	G	T	11: 77,924,302 (GRCm39)	R116I	unknown	Het
Dnah10	A	G	5: 124,827,858 (GRCm39)	M735V	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E130208F15Rik	C	A	7: 30,021,619 (GRCm39)	S93*	probably null	Het
E330034G19Rik	T	C	14: 24,346,104 (GRCm39)	I92T		Het
Eef1d	A	T	15: 75,768,309 (GRCm39)	V511D	probably damaging	Het
Efna1	T	G	3: 89,183,520 (GRCm39)	E102A	probably damaging	Het
H2-M11	C	A	17: 36,858,860 (GRCm39)	F133L	probably damaging	Het
Htr3b	G	T	9: 48,847,343 (GRCm39)		probably null	Het
Kcns3	A	G	12: 11,142,253 (GRCm39)	S149P	probably damaging	Het
Lhx4	T	A	1: 155,586,214 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,412,354 (GRCm39)	V1317M	probably damaging	Het
Mphosph9	A	G	5: 124,405,174 (GRCm39)	I799T	probably damaging	Het
Muc1	C	T	3: 89,138,906 (GRCm39)	A505V	probably damaging	Het
Muc6	C	A	7: 141,235,673 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,820,721 (GRCm39)	D1891G	probably damaging	Het
Nfe2l3	A	T	6: 51,428,065 (GRCm39)	H209L	probably benign	Het
Nprl2	A	C	9: 107,421,947 (GRCm39)	Y241S	probably damaging	Het
Oprm1	A	T	10: 6,780,442 (GRCm39)	Q368L	probably benign	Het
Or4g7	T	A	2: 111,309,753 (GRCm39)	M208K	possibly damaging	Het
Pcm1	C	T	8: 41,766,974 (GRCm39)	R1593C	probably damaging	Het
Pitpnm1	T	C	19: 4,162,878 (GRCm39)		probably null	Het
Pnoc	A	G	14: 65,642,521 (GRCm39)	S81P	probably benign	Het
Prkg2	T	A	5: 99,114,393 (GRCm39)	D585V	probably damaging	Het
Prpf38b	A	T	3: 108,815,148 (GRCm39)		probably benign	Het
Ranbp3l	G	T	15: 9,065,059 (GRCm39)	S482I	probably benign	Het
Rapgef4	T	C	2: 72,056,364 (GRCm39)	F651L	probably benign	Het
Rasgrf1	A	G	9: 89,793,675 (GRCm39)	T151A	unknown	Het
Rnf215	T	C	11: 4,085,544 (GRCm39)	L91P	possibly damaging	Het
Rph3a	T	C	5: 121,099,312 (GRCm39)	H193R	probably benign	Het
Rps17	C	T	7: 80,994,750 (GRCm39)	V4I	probably benign	Het
Sec61a2	A	T	2: 5,881,728 (GRCm39)	F234Y	possibly damaging	Het
Serpinb8	T	C	1: 107,526,736 (GRCm39)	L92P	probably damaging	Het
Slc1a6	A	T	10: 78,632,091 (GRCm39)	I306F	possibly damaging	Het
Slc26a11	T	C	11: 119,270,692 (GRCm39)	V538A	possibly damaging	Het
Slc27a1	G	A	8: 72,032,566 (GRCm39)	S193N	probably benign	Het
Slc9b1	T	C	3: 135,097,948 (GRCm39)	S393P	probably damaging	Het
Slfn3	T	A	11: 83,105,332 (GRCm39)	I320K	possibly damaging	Het
Spata31f1a	T	A	4: 42,848,542 (GRCm39)	M1205L	probably benign	Het
Tnik	A	T	3: 28,658,482 (GRCm39)	D589V	possibly damaging	Het
Trappc8	A	C	18: 21,006,938 (GRCm39)		probably null	Het
Ttbk1	A	G	17: 46,791,087 (GRCm39)	S66P	possibly damaging	Het
Unc13c	A	G	9: 73,392,220 (GRCm39)	V2044A	probably benign	Het
Usp53	T	C	3: 122,741,045 (GRCm39)	E735G	probably benign	Het
Vmn2r-ps158	T	A	7: 42,673,462 (GRCm39)	N180K	probably benign	Het
Zfyve26	A	T	12: 79,302,037 (GRCm39)	V1853D	probably damaging	Het
Zkscan17	A	G	11: 59,394,574 (GRCm39)	V9A	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
R4352:Tgfbr1	UTSW	4	47,402,863 (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
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'- GCATGGTGATGACTCAAGTAGG -3'
(R):5'- ACCACTGCAAATGTTTCATGG -3'

Sequencing Primer
(F):5'- ACTCAAGTAGGTGGGTTATTGC -3'
(R):5'- GCCTACTAAGTAGAAACAGTTTAGC -3'

Posted On

2020-07-13