Mutagenetix > Incidental Mutations

Incidental Mutation 'R5133:Tgfbrap1'

395892

Institutional Source

Beutler Lab

Gene Symbol

Tgfbrap1

Ensembl Gene

ENSMUSG00000070939

Gene Name

transforming growth factor, beta receptor associated protein 1

Synonyms

3110018K12Rik

MMRRC Submission

042721-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43047200-43098637 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43075506 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 145 (R145S)

Ref Sequence

ENSEMBL: ENSMUSP00000140132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095014] [ENSMUST00000186694] [ENSMUST00000188728] [ENSMUST00000189010] [ENSMUST00000190427]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095014
AA Change: R145S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: R145S

Domain	Start	End	E-Value	Type
Pfam:CNH	30	293	3.3e-15	PFAM
Pfam:Vps39_1	448	550	3.3e-26	PFAM
Pfam:Clathrin	572	730	5.3e-13	PFAM
Pfam:Vps39_2	738	846	2e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186694
AA Change: R145S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: R145S

Domain	Start	End	E-Value	Type
Pfam:CNH	29	293	1.4e-17	PFAM
Pfam:Vps39_1	448	550	4.5e-26	PFAM
Pfam:Clathrin	571	730	8.4e-13	PFAM
Pfam:Vps39_2	738	846	4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187872

Predicted Effect

probably benign
Transcript: ENSMUST00000188728

SMART Domains

Protein: ENSMUSP00000140169
Gene: ENSMUSG00000070939

Domain	Start	End	E-Value	Type
Pfam:Vps39_1	218	254	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189010

Predicted Effect

probably benign
Transcript: ENSMUST00000190427

SMART Domains

Protein: ENSMUSP00000140384
Gene: ENSMUSG00000070939

Domain	Start	End	E-Value	Type
Pfam:CNH	1	53	2e-4	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Apob	A	T	12: 8,008,898	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346		probably null	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Kras	T	C	6: 145,232,153	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066	D457G	probably benign	Het
Med13	T	C	11: 86,319,849	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796		probably null	Het
Olfr1434	T	C	19: 12,283,306	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Pdzd7	T	A	19: 45,028,429	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473		probably null	Het
Snrpf	T	C	10: 93,588,123	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820	K39N	probably null	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864	W60R	probably benign	Het

Other mutations in Tgfbrap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Tgfbrap1	APN	1	43060123	missense	probably damaging	0.98
IGL02142:Tgfbrap1	APN	1	43062592	missense	probably damaging	1.00
IGL02386:Tgfbrap1	APN	1	43075821	missense	probably damaging	1.00
IGL02667:Tgfbrap1	APN	1	43067620	missense	probably benign	0.04
IGL03039:Tgfbrap1	APN	1	43075928	missense	possibly damaging	0.76
askew	UTSW	1	43059129	missense	probably benign	0.22
R0245:Tgfbrap1	UTSW	1	43075592	missense	possibly damaging	0.73
R0609:Tgfbrap1	UTSW	1	43060141	missense	probably benign	0.24
R0624:Tgfbrap1	UTSW	1	43059129	missense	probably benign	0.22
R1111:Tgfbrap1	UTSW	1	43051976	missense	probably benign	0.07
R1184:Tgfbrap1	UTSW	1	43049696	missense	possibly damaging	0.65
R1469:Tgfbrap1	UTSW	1	43075458	missense	probably benign	0.03
R1469:Tgfbrap1	UTSW	1	43075458	missense	probably benign	0.03
R1571:Tgfbrap1	UTSW	1	43049813	missense	probably benign	0.21
R1615:Tgfbrap1	UTSW	1	43051985	missense	probably benign	0.00
R1704:Tgfbrap1	UTSW	1	43054656	missense	probably benign	0.00
R1773:Tgfbrap1	UTSW	1	43075352	missense	probably damaging	1.00
R1834:Tgfbrap1	UTSW	1	43071635	missense	probably damaging	1.00
R2019:Tgfbrap1	UTSW	1	43054517	critical splice donor site	probably null
R2038:Tgfbrap1	UTSW	1	43054634	nonsense	probably null
R2926:Tgfbrap1	UTSW	1	43075629	missense	probably damaging	1.00
R3842:Tgfbrap1	UTSW	1	43059154	missense	probably damaging	0.98
R4345:Tgfbrap1	UTSW	1	43056706	missense	probably benign	0.02
R5200:Tgfbrap1	UTSW	1	43075643	missense	probably damaging	1.00
R5382:Tgfbrap1	UTSW	1	43075865	missense	probably benign	0.01
R5715:Tgfbrap1	UTSW	1	43059937	missense	possibly damaging	0.64
R6860:Tgfbrap1	UTSW	1	43067599	missense	possibly damaging	0.63
R6921:Tgfbrap1	UTSW	1	43051896	missense	probably benign
R6937:Tgfbrap1	UTSW	1	43051904	missense	probably damaging	0.99
R7090:Tgfbrap1	UTSW	1	43071565	missense	probably damaging	0.99
R7359:Tgfbrap1	UTSW	1	43075533	missense	probably damaging	1.00
R8318:Tgfbrap1	UTSW	1	43056669	missense	probably damaging	0.97
R8354:Tgfbrap1	UTSW	1	43075910	missense	probably damaging	1.00
X0028:Tgfbrap1	UTSW	1	43071650	missense	probably damaging	1.00
Z1176:Tgfbrap1	UTSW	1	43060147	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTCTCCTCACTGCAGTAGGG -3'
(R):5'- AGAAACCTGTGAACGAGCTG -3'

Sequencing Primer
(F):5'- TCCTCACTGCAGTAGGGAAACAG -3'
(R):5'- TGCGGCCTCAGCTCTCAATAG -3'

Posted On

2016-06-21