Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Tgfb1i1'

446493

Institutional Source

Beutler Lab

Gene Symbol

Tgfb1i1

Ensembl Gene

ENSMUSG00000030782

Gene Name

transforming growth factor beta 1 induced transcript 1

Synonyms

hic-5, ARA55, TSC-5

MMRRC Submission

043370-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127845963-127852884 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 127847719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000070656] [ENSMUST00000163609] [ENSMUST00000164710] [ENSMUST00000165667] [ENSMUST00000167965] [ENSMUST00000170115] [ENSMUST00000169919]

AlphaFold

Q62219

Predicted Effect

probably benign
Transcript: ENSMUST00000044660

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	62	104	N/A	INTRINSIC
ARM	137	179	2.89e-1	SMART
ARM	180	221	3.32e-1	SMART
ARM	222	263	2.93e-2	SMART
Blast:ARM	265	306	1e-8	BLAST
low complexity region	313	338	N/A	INTRINSIC
ARM	353	399	4.88e0	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	670	690	N/A	INTRINSIC
Pfam:BTB	742	854	9.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070656

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	19	183	1.7e-7	PFAM
LIM	210	261	5.18e-22	SMART
LIM	269	320	4.37e-20	SMART
LIM	328	379	3.69e-18	SMART
LIM	387	438	6.89e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163553

Predicted Effect

probably benign
Transcript: ENSMUST00000163609

SMART Domains

Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	11	44	N/A	INTRINSIC
low complexity region	64	76	N/A	INTRINSIC
LIM	116	167	5.18e-22	SMART
LIM	175	226	4.37e-20	SMART
LIM	234	285	3.69e-18	SMART
LIM	293	344	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164710

SMART Domains

Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	28	48	N/A	INTRINSIC
Pfam:Paxillin	49	178	1.4e-10	PFAM
low complexity region	197	209	N/A	INTRINSIC
LIM	249	300	5.18e-22	SMART
LIM	308	359	4.37e-20	SMART
LIM	367	418	3.69e-18	SMART
LIM	426	477	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165667

SMART Domains

Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	27	37	N/A	INTRINSIC
low complexity region	83	116	N/A	INTRINSIC
low complexity region	136	148	N/A	INTRINSIC
LIM	188	239	5.18e-22	SMART
LIM	247	298	4.37e-20	SMART
LIM	306	357	3.69e-18	SMART
LIM	365	416	6.89e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171888

Predicted Effect

probably benign
Transcript: ENSMUST00000167965

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	34	200	7.3e-8	PFAM
LIM	227	278	5.18e-22	SMART
LIM	286	337	4.37e-20	SMART
LIM	345	396	3.69e-18	SMART
LIM	404	455	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170115

SMART Domains

Protein: ENSMUSP00000129958
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	17	112	1.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168825

SMART Domains

Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
LIM	165	216	5.18e-22	SMART
LIM	224	275	4.37e-20	SMART
LIM	283	334	3.69e-18	SMART
LIM	342	393	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169919

SMART Domains

Protein: ENSMUSP00000131705
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal response to wire injury of femoral arteries and increased VSMC apoptosis in response to wire injury or mechanical stress. Mice homozygous for a different knock-out allele show normal platelet integrin function both in vitro and in vivo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	T	C	12: 20,865,460 (GRCm39)		noncoding transcript	Het
Abhd8	A	G	8: 71,909,972 (GRCm39)	V392A	probably benign	Het
Alpk3	A	G	7: 80,728,310 (GRCm39)	E480G	probably benign	Het
Ankfy1	C	G	11: 72,651,082 (GRCm39)	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,222,578 (GRCm39)	Y271*	probably null	Het
Bcl9	T	C	3: 97,122,491 (GRCm39)	I103V	probably benign	Het
Cgnl1	C	T	9: 71,552,769 (GRCm39)		probably null	Het
Cyp2c23	T	A	19: 44,010,018 (GRCm39)	D109V	probably damaging	Het
Cyp2j13	A	T	4: 95,965,669 (GRCm39)	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,037,500 (GRCm39)		probably benign	Het
Desi2	A	T	1: 178,084,061 (GRCm39)		probably benign	Het
Dll3	T	C	7: 27,998,434 (GRCm39)	E177G	possibly damaging	Het
Ern2	C	T	7: 121,779,130 (GRCm39)	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm6133	A	G	18: 78,393,464 (GRCm39)	K153E	probably benign	Het
Gpr68	A	T	12: 100,845,080 (GRCm39)	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,166,948 (GRCm39)	I130F	probably damaging	Het
Hk1	T	C	10: 62,122,228 (GRCm39)	K489R	probably benign	Het
Ints13	T	C	6: 146,456,571 (GRCm39)	N425S	probably damaging	Het
Itpkc	T	C	7: 26,912,413 (GRCm39)	D578G	probably damaging	Het
Kcns3	A	G	12: 11,142,250 (GRCm39)	S150P	probably benign	Het
Khdrbs3	T	A	15: 68,921,312 (GRCm39)		probably null	Het
Kif11	A	G	19: 37,379,313 (GRCm39)	I335V	probably benign	Het
Lrrn4	C	G	2: 132,714,076 (GRCm39)	C290S	probably damaging	Het
Macrod2	T	C	2: 141,074,102 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,646,738 (GRCm39)	N688S	probably benign	Het
Myh8	G	A	11: 67,188,026 (GRCm39)	E933K	probably damaging	Het
Nat8f5	T	C	6: 85,794,657 (GRCm39)	Y101C	probably damaging	Het
Nhlrc1	A	G	13: 47,168,188 (GRCm39)	V23A	probably benign	Het
Nkx2-3	T	A	19: 43,602,972 (GRCm39)	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,449,414 (GRCm39)	V172E	probably benign	Het
Nmrk1	G	T	19: 18,622,438 (GRCm39)	R172S	probably benign	Het
Nudcd3	T	C	11: 6,063,286 (GRCm39)	D201G	probably damaging	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or10g9b	C	T	9: 39,917,634 (GRCm39)	V204I	probably benign	Het
Or13a18	A	G	7: 140,190,856 (GRCm39)	Y259C	probably damaging	Het
Or2t44	G	A	11: 58,677,420 (GRCm39)	R120H	probably benign	Het
Or2y14	A	G	11: 49,405,419 (GRCm39)	E318G	unknown	Het
Or4c12b	T	A	2: 89,646,893 (GRCm39)	D68E	probably damaging	Het
Or56a3	A	T	7: 104,740,102 (GRCm39)	I248N	probably damaging	Het
Or5ac23	A	T	16: 59,149,514 (GRCm39)	Y119*	probably null	Het
Pcdh15	T	A	10: 74,021,177 (GRCm39)	Y130*	probably null	Het
Pcdh9	G	A	14: 94,124,379 (GRCm39)	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,631,090 (GRCm39)	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,731,607 (GRCm39)		probably benign	Het
Pdzph1	A	T	17: 59,186,146 (GRCm39)	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,182,199 (GRCm39)	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,781,757 (GRCm39)	G763W	probably damaging	Het
Prox2	A	G	12: 85,134,154 (GRCm39)	F591L	probably benign	Het
Robo3	T	A	9: 37,330,497 (GRCm39)	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,471,239 (GRCm39)	C222*	probably null	Het
Sec16a	T	C	2: 26,304,402 (GRCm39)	D2303G	probably damaging	Het
Shoc1	T	C	4: 59,092,466 (GRCm39)	I238M	probably benign	Het
Slc16a5	A	G	11: 115,363,604 (GRCm39)	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,363,891 (GRCm39)	M232K	probably damaging	Het
Slc35b3	A	T	13: 39,121,734 (GRCm39)	F300I	probably damaging	Het
Spata2l	A	G	8: 123,962,459 (GRCm39)	V34A	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tecta	T	A	9: 42,256,885 (GRCm39)	Q1597L	possibly damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,807 (GRCm39)	T234A	probably benign	Het
Usp20	A	G	2: 30,907,520 (GRCm39)	Y684C	probably damaging	Het
Zc3h4	T	A	7: 16,163,536 (GRCm39)	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747 (GRCm39)	I2099T	probably damaging	Het

Other mutations in Tgfb1i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Tgfb1i1	APN	7	127,851,693 (GRCm39)	missense	probably damaging	1.00
IGL01919:Tgfb1i1	APN	7	127,847,654 (GRCm39)	splice site	probably benign
IGL01996:Tgfb1i1	APN	7	127,848,464 (GRCm39)	splice site	probably benign
IGL02527:Tgfb1i1	APN	7	127,851,734 (GRCm39)	splice site	probably benign
IGL02596:Tgfb1i1	APN	7	127,848,068 (GRCm39)	start codon destroyed	probably null	0.05
IGL03139:Tgfb1i1	APN	7	127,848,476 (GRCm39)	missense	possibly damaging	0.79
PIT4431001:Tgfb1i1	UTSW	7	127,848,353 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Tgfb1i1	UTSW	7	127,848,353 (GRCm39)	missense	probably damaging	1.00
R0114:Tgfb1i1	UTSW	7	127,848,666 (GRCm39)	missense	probably damaging	1.00
R1833:Tgfb1i1	UTSW	7	127,848,670 (GRCm39)	splice site	probably benign
R2116:Tgfb1i1	UTSW	7	127,851,977 (GRCm39)	missense	probably damaging	1.00
R2508:Tgfb1i1	UTSW	7	127,848,085 (GRCm39)	splice site	probably null
R4695:Tgfb1i1	UTSW	7	127,848,348 (GRCm39)	missense	probably damaging	1.00
R4756:Tgfb1i1	UTSW	7	127,848,571 (GRCm39)	missense	probably damaging	1.00
R4853:Tgfb1i1	UTSW	7	127,847,840 (GRCm39)	nonsense	probably null
R5024:Tgfb1i1	UTSW	7	127,847,389 (GRCm39)	start codon destroyed	probably null	0.33
R5839:Tgfb1i1	UTSW	7	127,852,537 (GRCm39)	makesense	probably null
R6105:Tgfb1i1	UTSW	7	127,847,589 (GRCm39)	splice site	probably null
R6178:Tgfb1i1	UTSW	7	127,852,517 (GRCm39)	missense	probably damaging	0.98
R6310:Tgfb1i1	UTSW	7	127,852,009 (GRCm39)	missense	probably damaging	1.00
R8790:Tgfb1i1	UTSW	7	127,852,049 (GRCm39)	missense	probably damaging	0.99
R8845:Tgfb1i1	UTSW	7	127,851,690 (GRCm39)	missense	possibly damaging	0.85
R9455:Tgfb1i1	UTSW	7	127,852,009 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCAGAGTCTGAGTGAGGC -3'
(R):5'- CAAGCCATCCAAGACTGTCTCG -3'

Sequencing Primer
(F):5'- GGCAAGGAACATGACTGTCCTTC -3'
(R):5'- CGGTAACCCTGGTACCTGTAATG -3'

Posted On

2016-11-21