Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02142:Tgfbrap1'

281622

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgfbrap1

Ensembl Gene

ENSMUSG00000070939

Gene Name

transforming growth factor, beta receptor associated protein 1

Synonyms

3110018K12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02142

Quality Score

Status

Chromosome

Chromosomal Location

43086360-43137788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43101752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 349 (Y349C)

Ref Sequence

ENSEMBL: ENSMUSP00000140132 (fasta)

Gene Model

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

AlphaFold

Q3UR70

Predicted Effect

probably damaging
Transcript: ENSMUST00000095014
AA Change: Y349C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: Y349C

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: Y349C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: Y349C

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: ENSMUST00000188598

Predicted Effect

probably benign
Transcript: ENSMUST00000188728
AA Change: Y119C

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140169
Gene: ENSMUSG00000070939
AA Change: Y119C

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

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,963,575 (GRCm39)	S2060P	probably benign	Het
Abcg4	A	G	9: 44,189,014 (GRCm39)	F426S	probably benign	Het
Actn1	C	T	12: 80,222,929 (GRCm39)		probably null	Het
Adgrd1	T	A	5: 129,208,648 (GRCm39)	H251Q	probably benign	Het
Adgrg3	C	T	8: 95,766,483 (GRCm39)	P385S	probably damaging	Het
Ampd2	G	T	3: 107,987,660 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,155,360 (GRCm39)	S86P	probably damaging	Het
Art5	C	T	7: 101,747,123 (GRCm39)	E121K	probably null	Het
Atad5	G	A	11: 79,985,023 (GRCm39)	E37K	probably benign	Het
Atp13a5	A	G	16: 29,053,315 (GRCm39)	V1084A	probably benign	Het
Cfap44	T	C	16: 44,241,507 (GRCm39)	I626T	probably benign	Het
Col16a1	T	A	4: 129,945,440 (GRCm39)		probably null	Het
Defa22	T	G	8: 21,653,130 (GRCm39)	C81G	possibly damaging	Het
Dnm2	A	G	9: 21,411,649 (GRCm39)	Y622C	probably damaging	Het
Efna5	T	A	17: 62,914,340 (GRCm39)	L201F	unknown	Het
Elac1	T	C	18: 73,871,991 (GRCm39)	R335G	probably benign	Het
Enpp5	T	C	17: 44,396,468 (GRCm39)	V460A	probably benign	Het
Esr2	A	G	12: 76,169,969 (GRCm39)	V453A	probably benign	Het
Fam210b	T	A	2: 172,194,497 (GRCm39)		probably benign	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Fcrlb	A	G	1: 170,736,248 (GRCm39)	V176A	probably damaging	Het
Gabrq	T	A	X: 71,879,783 (GRCm39)	V256E	possibly damaging	Het
Gba1	T	C	3: 89,113,148 (GRCm39)	L193P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Helq	A	G	5: 100,930,960 (GRCm39)	F597L	probably benign	Het
Hrh1	A	T	6: 114,457,204 (GRCm39)	I162L	probably damaging	Het
Jph1	A	T	1: 17,161,884 (GRCm39)	F259L	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Kdm4c	T	A	4: 74,225,253 (GRCm39)		probably null	Het
Kif13a	T	C	13: 46,925,011 (GRCm39)	T308A	probably benign	Het
Lars1	C	T	18: 42,360,345 (GRCm39)	V704M	probably benign	Het
Lcmt2	A	G	2: 120,969,394 (GRCm39)	L343P	possibly damaging	Het
Lhfpl1	A	G	X: 144,123,733 (GRCm39)	F125L	probably benign	Het
Lmbrd2	C	A	15: 9,186,772 (GRCm39)	D582E	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Macf1	T	C	4: 123,365,842 (GRCm39)	D1408G	probably benign	Het
Magi3	T	C	3: 103,923,219 (GRCm39)	K1166R	probably benign	Het
Marchf5	T	C	19: 37,197,892 (GRCm39)		probably benign	Het
Ms4a20	G	A	19: 11,087,695 (GRCm39)	Q79*	probably null	Het
Naa25	A	G	5: 121,564,825 (GRCm39)	Q555R	possibly damaging	Het
Npat	A	G	9: 53,481,207 (GRCm39)	T1005A	probably benign	Het
Nt5c3	G	A	6: 56,863,670 (GRCm39)	A108V	probably damaging	Het
Ocrl	T	A	X: 47,024,995 (GRCm39)	M322K	probably damaging	Het
Odad2	C	A	18: 7,214,601 (GRCm39)	W733C	probably damaging	Het
Or8g2	A	G	9: 39,821,935 (GRCm39)	T279A	possibly damaging	Het
Psg23	A	T	7: 18,344,345 (GRCm39)	V370E	probably benign	Het
Rassf2	A	T	2: 131,838,353 (GRCm39)	M311K	possibly damaging	Het
Rhobtb3	A	G	13: 76,025,614 (GRCm39)	Y501H	probably damaging	Het
Rpl4	A	G	9: 64,083,488 (GRCm39)	D179G	possibly damaging	Het
Scn2a	T	A	2: 65,546,182 (GRCm39)	I915N	probably damaging	Het
Scn3a	T	A	2: 65,356,965 (GRCm39)	T160S	possibly damaging	Het
Slx4ip	T	G	2: 136,909,942 (GRCm39)	N242K	possibly damaging	Het
Spidr	T	A	16: 15,865,945 (GRCm39)	Q288L	probably benign	Het
Sun1	A	T	5: 139,216,918 (GRCm39)	H255L	possibly damaging	Het
Tacc1	C	T	8: 25,665,233 (GRCm39)	G51S	probably damaging	Het
Tet2	T	A	3: 133,185,900 (GRCm39)	N1179I	possibly damaging	Het
Tnrc6a	T	C	7: 122,751,414 (GRCm39)		probably benign	Het
Trim32	T	C	4: 65,532,736 (GRCm39)	L431P	probably damaging	Het
Vmn1r35	A	G	6: 66,656,334 (GRCm39)	L112S	probably damaging	Het
Vmn2r100	A	C	17: 19,742,583 (GRCm39)	H319P	probably damaging	Het
Wdr20rt	A	G	12: 65,274,039 (GRCm39)	T328A	probably benign	Het
Zbtb17	T	C	4: 141,192,293 (GRCm39)	Y413H	probably benign	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
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
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

Posted On

2015-04-16