Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Tgfbrap1'

196764

Institutional Source

Beutler Lab

Gene Symbol

Tgfbrap1

Ensembl Gene

ENSMUSG00000070939

Gene Name

transforming growth factor, beta receptor associated protein 1

Synonyms

3110018K12Rik

MMRRC Submission

039804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43086360-43137788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43114512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 196 (G196D)

Ref Sequence

ENSEMBL: ENSMUSP00000140132 (fasta)

Gene Model

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

AlphaFold

Q3UR70

Predicted Effect

probably damaging
Transcript: ENSMUST00000095014
AA Change: G196D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: G196D

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: G196D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: G196D

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Afg2a	T	C	3: 37,493,334 (GRCm39)	F515L	probably damaging	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,401,195 (GRCm39)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Icam5	T	C	9: 20,944,821 (GRCm39)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,571,593 (GRCm39)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,803,865 (GRCm39)		probably null	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	probably damaging	Het

Other mutations in Tgfbrap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Tgfbrap1	APN	1	43,099,283 (GRCm39)	missense	probably damaging	0.98
IGL02142:Tgfbrap1	APN	1	43,101,752 (GRCm39)	missense	probably damaging	1.00
IGL02386:Tgfbrap1	APN	1	43,114,981 (GRCm39)	missense	probably damaging	1.00
IGL02667:Tgfbrap1	APN	1	43,106,780 (GRCm39)	missense	probably benign	0.04
IGL03039:Tgfbrap1	APN	1	43,115,088 (GRCm39)	missense	possibly damaging	0.76
askew	UTSW	1	43,098,289 (GRCm39)	missense	probably benign	0.22
R0245:Tgfbrap1	UTSW	1	43,114,752 (GRCm39)	missense	possibly damaging	0.73
R0609:Tgfbrap1	UTSW	1	43,099,301 (GRCm39)	missense	probably benign	0.24
R0624:Tgfbrap1	UTSW	1	43,098,289 (GRCm39)	missense	probably benign	0.22
R1111:Tgfbrap1	UTSW	1	43,091,136 (GRCm39)	missense	probably benign	0.07
R1184:Tgfbrap1	UTSW	1	43,088,856 (GRCm39)	missense	possibly damaging	0.65
R1469:Tgfbrap1	UTSW	1	43,114,618 (GRCm39)	missense	probably benign	0.03
R1469:Tgfbrap1	UTSW	1	43,114,618 (GRCm39)	missense	probably benign	0.03
R1571:Tgfbrap1	UTSW	1	43,088,973 (GRCm39)	missense	probably benign	0.21
R1615:Tgfbrap1	UTSW	1	43,091,145 (GRCm39)	missense	probably benign	0.00
R1704:Tgfbrap1	UTSW	1	43,093,816 (GRCm39)	missense	probably benign	0.00
R1834:Tgfbrap1	UTSW	1	43,110,795 (GRCm39)	missense	probably damaging	1.00
R2019:Tgfbrap1	UTSW	1	43,093,677 (GRCm39)	critical splice donor site	probably null
R2038:Tgfbrap1	UTSW	1	43,093,794 (GRCm39)	nonsense	probably null
R2926:Tgfbrap1	UTSW	1	43,114,789 (GRCm39)	missense	probably damaging	1.00
R3842:Tgfbrap1	UTSW	1	43,098,314 (GRCm39)	missense	probably damaging	0.98
R4345:Tgfbrap1	UTSW	1	43,095,866 (GRCm39)	missense	probably benign	0.02
R5133:Tgfbrap1	UTSW	1	43,114,666 (GRCm39)	missense	probably damaging	0.96
R5200:Tgfbrap1	UTSW	1	43,114,803 (GRCm39)	missense	probably damaging	1.00
R5382:Tgfbrap1	UTSW	1	43,115,025 (GRCm39)	missense	probably benign	0.01
R5715:Tgfbrap1	UTSW	1	43,099,097 (GRCm39)	missense	possibly damaging	0.64
R6860:Tgfbrap1	UTSW	1	43,106,759 (GRCm39)	missense	possibly damaging	0.63
R6921:Tgfbrap1	UTSW	1	43,091,056 (GRCm39)	missense	probably benign
R6937:Tgfbrap1	UTSW	1	43,091,064 (GRCm39)	missense	probably damaging	0.99
R7090:Tgfbrap1	UTSW	1	43,110,725 (GRCm39)	missense	probably damaging	0.99
R7359:Tgfbrap1	UTSW	1	43,114,693 (GRCm39)	missense	probably damaging	1.00
R8318:Tgfbrap1	UTSW	1	43,095,829 (GRCm39)	missense	probably damaging	0.97
R8354:Tgfbrap1	UTSW	1	43,115,070 (GRCm39)	missense	probably damaging	1.00
R8874:Tgfbrap1	UTSW	1	43,114,973 (GRCm39)	missense	probably benign	0.11
R8878:Tgfbrap1	UTSW	1	43,088,959 (GRCm39)	nonsense	probably null
R9030:Tgfbrap1	UTSW	1	43,095,837 (GRCm39)	missense	probably benign	0.00
R9150:Tgfbrap1	UTSW	1	43,114,985 (GRCm39)	nonsense	probably null
R9198:Tgfbrap1	UTSW	1	43,093,799 (GRCm39)	missense	probably damaging	1.00
R9348:Tgfbrap1	UTSW	1	43,093,695 (GRCm39)	missense	probably benign	0.00
R9384:Tgfbrap1	UTSW	1	43,095,912 (GRCm39)	missense	probably damaging	1.00
R9464:Tgfbrap1	UTSW	1	43,114,608 (GRCm39)	missense	probably damaging	0.99
X0028:Tgfbrap1	UTSW	1	43,110,810 (GRCm39)	missense	probably damaging	1.00
Z1176:Tgfbrap1	UTSW	1	43,099,307 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGTGTCCAAAGGACCTAAGAGAGC -3'
(R):5'- CAACATTTGCAGTGAACGAGAGCC -3'

Sequencing Primer
(F):5'- CCTAAGAGAGCAGGCAGGATG -3'
(R):5'- ACGAGAGCCCCGTGAATG -3'

Posted On

2014-05-23