Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Tgfb1i1'

373718

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

Accession Numbers

Essential gene?

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

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127845963-127852884 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 127847840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 74 (C74*)

Ref Sequence

ENSEMBL: ENSMUSP00000129958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000070656] [ENSMUST00000163609] [ENSMUST00000164710] [ENSMUST00000165667] [ENSMUST00000170115] [ENSMUST00000167965] [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 null
Transcript: ENSMUST00000070656
AA Change: C74*

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: C74*

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 null
Transcript: ENSMUST00000164710
AA Change: C113*

SMART Domains

Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: C113*

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 null
Transcript: ENSMUST00000165667
AA Change: C52*

SMART Domains

Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: C52*

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

probably null
Transcript: ENSMUST00000170115
AA Change: C74*

SMART Domains

Protein: ENSMUSP00000129958
Gene: ENSMUSG00000030782
AA Change: C74*

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

Predicted Effect

probably null
Transcript: ENSMUST00000167965
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: C91*

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

noncoding transcript
Transcript: ENSMUST00000171888

Predicted Effect

probably null
Transcript: ENSMUST00000168825
AA Change: C52*

SMART Domains

Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782
AA Change: C52*

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

noncoding transcript
Transcript: ENSMUST00000206691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205654

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	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
R5024:Tgfb1i1	UTSW	7	127,847,389 (GRCm39)	start codon destroyed	probably null	0.33
R5770:Tgfb1i1	UTSW	7	127,847,719 (GRCm39)	intron	probably benign
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'- TCATCTATACAGGTGAGGGGCC -3'
(R):5'- CAAGGAGCCCATATCAGTCC -3'

Sequencing Primer
(F):5'- CCTGGGAACTGGGCTAGGAAG -3'
(R):5'- CACCCTCCCAGTGAAGGCTTC -3'

Posted On

2016-03-01