Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Tgfbrap1'

571154

Institutional Source

Beutler Lab

Gene Symbol

Tgfbrap1

Ensembl Gene

ENSMUSG00000070939

Gene Name

transforming growth factor, beta receptor associated protein 1

Synonyms

3110018K12Rik

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43086360-43137788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43114693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 136 (V136L)

Ref Sequence

ENSEMBL: ENSMUSP00000092624 (fasta)

Gene Model

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

AlphaFold

Q3UR70

Predicted Effect

probably damaging
Transcript: ENSMUST00000095014
AA Change: V136L

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

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: V136L

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: V136L

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

SMART Domains

Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: V136L

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	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
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'- CTGCAGTAGGGAAACAGGTC -3'
(R):5'- CCTGGGCTTCAAGAAACCTG -3'

Sequencing Primer
(F):5'- AAAGGCCTGTGCTGTAGTTCAG -3'
(R):5'- CTGGGCTTCAAGAAACCTGTGAAC -3'

Posted On

2019-09-13