Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Tgfb1i1'

358015

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

041972-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127845963-127852884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127848571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 96 (M96L)

Ref Sequence

ENSEMBL: ENSMUSP00000133134 (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

possibly damaging
Transcript: ENSMUST00000070656
AA Change: M190L

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: M190L

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 damaging
Transcript: ENSMUST00000163609
AA Change: M96L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: M96L

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

possibly damaging
Transcript: ENSMUST00000164710
AA Change: M229L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: M229L

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

possibly damaging
Transcript: ENSMUST00000165667
AA Change: M168L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: M168L

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: 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

possibly damaging
Transcript: ENSMUST00000167965
AA Change: M207L

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: M207L

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: ENSMUST00000205654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206691

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly 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
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
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'- GTGTCACTTTGTGGCTCACC -3'
(R):5'- CGAATCTCACTTTGTATCTAACCTG -3'

Sequencing Primer
(F):5'- GCTCACCAATCCAGTCGTGATG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2015-11-11