Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Tgfbrap1'

698016

Institutional Source

Beutler Lab

Gene Symbol

Tgfbrap1

Ensembl Gene

ENSMUSG00000070939

Gene Name

transforming growth factor, beta receptor associated protein 1

Synonyms

3110018K12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43086360-43137788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43093799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 564 (R564S)

Ref Sequence

ENSEMBL: ENSMUSP00000092624 (fasta)

Gene Model

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

AlphaFold

Q3UR70

Predicted Effect

probably damaging
Transcript: ENSMUST00000095014
AA Change: R564S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: R564S

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: R564S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: R564S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts9	A	T	6: 92,837,170 (GRCm39)	S1164T	probably benign	Het
Bcat1	A	T	6: 144,985,222 (GRCm39)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,957,129 (GRCm39)	T2832A	probably benign	Het
Brca2	A	T	5: 150,459,977 (GRCm39)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,831,268 (GRCm39)	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpf	G	T	1: 189,388,987 (GRCm39)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,830,354 (GRCm39)		probably null	Het
Clec4d	T	C	6: 123,251,757 (GRCm39)	F213S	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,962,430 (GRCm39)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,687,612 (GRCm39)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Dld	A	G	12: 31,390,885 (GRCm39)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,655,477 (GRCm39)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,846,570 (GRCm39)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,553,303 (GRCm39)		probably null	Het
Fgl2	A	C	5: 21,577,920 (GRCm39)	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 85,560,780 (GRCm39)	I132F	probably damaging	Het
Gm15446	T	C	5: 110,090,743 (GRCm39)	C332R	probably damaging	Het
Gm15737	A	T	6: 92,856,640 (GRCm39)	E23V	unknown	Het
Gm5111	A	G	6: 48,567,037 (GRCm39)	H84R	unknown	Het
Golga3	G	A	5: 110,355,619 (GRCm39)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,678,919 (GRCm39)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,005,621 (GRCm39)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ints7	T	A	1: 191,351,872 (GRCm39)	S860R	probably benign	Het
Lipi	T	A	16: 75,362,461 (GRCm39)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,791,722 (GRCm39)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,938,854 (GRCm39)	D242G	probably benign	Het
Map1a	A	T	2: 121,133,854 (GRCm39)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,924 (GRCm39)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,198,544 (GRCm39)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,640,041 (GRCm39)	R124G	probably benign	Het
Ngef	T	A	1: 87,406,797 (GRCm39)	H240L	unknown	Het
Nmur1	T	G	1: 86,315,256 (GRCm39)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,859,955 (GRCm39)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,232,850 (GRCm39)		probably null	Het
Or4k1	A	T	14: 50,377,990 (GRCm39)	Y35*	probably null	Het
Or52ac1	T	A	7: 104,245,635 (GRCm39)	Y251F	probably damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Osbpl10	G	A	9: 115,061,211 (GRCm39)	W588*	probably null	Het
Pask	A	T	1: 93,265,205 (GRCm39)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,491,084 (GRCm39)	R170K	probably damaging	Het
Plec	A	G	15: 76,069,937 (GRCm39)	C960R	unknown	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,524,163 (GRCm39)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,883,552 (GRCm39)	E76V	probably damaging	Het
Rock2	A	G	12: 17,015,557 (GRCm39)	N818S	probably benign	Het
Ryk	A	T	9: 102,758,854 (GRCm39)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,378,168 (GRCm39)	Q661R	possibly damaging	Het
Siae	T	C	9: 37,539,105 (GRCm39)	V172A	probably benign	Het
Slc35f4	A	G	14: 49,556,377 (GRCm39)	S9P	unknown	Het
Smg1	T	C	7: 117,795,179 (GRCm39)	E456G	unknown	Het
Srgap3	C	T	6: 112,743,865 (GRCm39)	A458T	probably damaging	Het
Usp15	A	G	10: 123,004,143 (GRCm39)	Y204H	probably damaging	Het
Usp35	A	G	7: 96,962,276 (GRCm39)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,600,524 (GRCm39)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,518,987 (GRCm39)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,080,689 (GRCm39)		probably null	Het
Zscan22	G	T	7: 12,641,130 (GRCm39)	R458L	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
R1773:Tgfbrap1	UTSW	1	43,114,512 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTTAGTGACATTGCAGCCAC -3'
(R):5'- AGGGTTACTTAGCACCACTTTCC -3'

Sequencing Primer
(F):5'- TTGCAGCCACAGACCTTAGTC -3'
(R):5'- AGCACCACTTTCCTGTCTATGGTG -3'

Posted On

2022-02-07