Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Tgfb1i1'

391233

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

042615-MU

Accession Numbers

Essential gene?

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

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127845963-127852884 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to T at 127847389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000129958 (fasta)

Gene Model

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

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: M1I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: M1I

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 null
Transcript: ENSMUST00000165667
AA Change: M1I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: M1I

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: ENSMUST00000171888

Predicted Effect

probably benign
Transcript: ENSMUST00000167965
AA Change: M18I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: M18I

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: ENSMUST00000169919
AA Change: M18I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131705
Gene: ENSMUSG00000030782
AA Change: M18I

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

Predicted Effect

probably null
Transcript: ENSMUST00000170115
AA Change: M1I

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129958
Gene: ENSMUSG00000030782
AA Change: M1I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206691

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fam83h	T	C	15: 75,876,991 (GRCm39)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,604,007 (GRCm39)	L608Q	probably benign	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,102,217 (GRCm39)	N38K	probably benign	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Washc4	C	A	10: 83,419,200 (GRCm39)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	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
R4853:Tgfb1i1	UTSW	7	127,847,840 (GRCm39)	nonsense	probably null
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'- GGTCTGACCCTGTGAGTATG -3'
(R):5'- CCTGAAGATTCTCCAGACCCTG -3'

Sequencing Primer
(F):5'- ACCCTGTGAGTATGGTTTTGGCC -3'
(R):5'- TCCAGACCCTGTCTATAGAGAGTAG -3'

Posted On

2016-06-06