Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Tgif1'

411781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgif1

Ensembl Gene

ENSMUSG00000047407

Gene Name

TGFB-induced factor homeobox 1

Synonyms

Tgif

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

71151200-71160527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71151836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 258 (S258R)

Ref Sequence

ENSEMBL: ENSMUSP00000130930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059775] [ENSMUST00000118283] [ENSMUST00000127719] [ENSMUST00000134654] [ENSMUST00000135007] [ENSMUST00000166395] [ENSMUST00000172229] [ENSMUST00000186358]

AlphaFold

P70284

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059775
AA Change: S225R

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: S225R

Domain	Start	End	E-Value	Type
HOX	35	100	1.53e-13	SMART
low complexity region	117	126	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118283
AA Change: S205R

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: S205R

Domain	Start	End	E-Value	Type
HOX	15	80	1.53e-13	SMART
low complexity region	97	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125329

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127719
AA Change: S205R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: S205R

Domain	Start	End	E-Value	Type
HOX	15	80	1.53e-13	SMART
low complexity region	97	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132825

Predicted Effect

probably benign
Transcript: ENSMUST00000134654

SMART Domains

Protein: ENSMUSP00000125247
Gene: ENSMUSG00000047407

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:Homeobox_KN	33	58	7.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135007

SMART Domains

Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407

Domain	Start	End	E-Value	Type
HOX	15	80	1.53e-13	SMART
low complexity region	97	106	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166395
AA Change: S258R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: S258R

Domain	Start	End	E-Value	Type
HOX	68	133	1.53e-13	SMART
low complexity region	150	159	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172229
AA Change: S205R

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: S205R

Domain	Start	End	E-Value	Type
HOX	15	80	1.53e-13	SMART
low complexity region	97	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190687

Predicted Effect

probably benign
Transcript: ENSMUST00000186358

SMART Domains

Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407

Domain	Start	End	E-Value	Type
HOX	35	84	1.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156484

SMART Domains

Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407

Domain	Start	End	E-Value	Type
HOX	6	57	2.23e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display normal growth, behavior and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,658,624 (GRCm39)	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,652,019 (GRCm39)	Q2995L	probably damaging	Het
Capn9	T	C	8: 125,332,616 (GRCm39)	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,454,957 (GRCm39)	I197N	probably damaging	Het
Chl1	T	A	6: 103,642,928 (GRCm39)	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,953,764 (GRCm39)		probably benign	Het
Cyp2d12	T	C	15: 82,443,492 (GRCm39)	S485P	probably benign	Het
Ddx50	A	T	10: 62,457,166 (GRCm39)		probably null	Het
Dlgap4	C	A	2: 156,552,938 (GRCm39)		probably null	Het
Dpysl4	G	A	7: 138,679,826 (GRCm39)		probably null	Het
Erbin	T	C	13: 103,977,740 (GRCm39)	M606V	possibly damaging	Het
Fat4	T	G	3: 39,011,547 (GRCm39)	S2216A	probably benign	Het
Frem2	T	C	3: 53,429,713 (GRCm39)	N2779S	probably benign	Het
Fut1	T	C	7: 45,268,457 (GRCm39)	V82A	probably benign	Het
Gnb1l	C	T	16: 18,359,205 (GRCm39)	A2V	probably damaging	Het
Hdac1	C	T	4: 129,412,624 (GRCm39)	E327K	probably null	Het
Hdlbp	A	G	1: 93,344,309 (GRCm39)	V819A	possibly damaging	Het
Ift122	T	C	6: 115,882,922 (GRCm39)		probably benign	Het
Iqgap2	T	C	13: 95,867,785 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,913,884 (GRCm39)	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,373,645 (GRCm39)	V1458A	probably damaging	Het
Lef1	A	G	3: 130,988,312 (GRCm39)	K265R	probably damaging	Het
Lrp2	T	C	2: 69,353,538 (GRCm39)	D574G	probably damaging	Het
Mterf2	C	T	10: 84,956,324 (GRCm39)	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703 (GRCm38)	R155Q	probably damaging	Het
Obscn	T	C	11: 58,964,122 (GRCm39)	T3304A	probably damaging	Het
Or2j3	G	T	17: 38,615,992 (GRCm39)	S120Y	probably damaging	Het
Or4a78	A	G	2: 89,497,831 (GRCm39)	I133T	possibly damaging	Het
Os9	G	A	10: 126,934,463 (GRCm39)	T391M	probably benign	Het
Parp6	C	A	9: 59,557,300 (GRCm39)	Y131*	probably null	Het
Plxdc1	T	C	11: 97,823,146 (GRCm39)	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Ptprc	A	T	1: 138,041,357 (GRCm39)	S167R	probably benign	Het
Rad54l2	T	C	9: 106,596,263 (GRCm39)	D225G	probably benign	Het
Rgs7	T	C	1: 175,098,401 (GRCm39)	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,192,183 (GRCm39)	D607G	probably damaging	Het
Shisa5	T	A	9: 108,885,560 (GRCm39)	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,338,496 (GRCm39)		probably benign	Het
Taf4b	T	G	18: 14,954,592 (GRCm39)	V556G	probably damaging	Het
Tmem106a	T	C	11: 101,481,284 (GRCm39)		probably benign	Het
Vmn1r113	A	T	7: 20,522,012 (GRCm39)	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,692,005 (GRCm39)	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,913,821 (GRCm39)	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,882,426 (GRCm39)	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,553,022 (GRCm39)	Y713C	probably damaging	Het

Other mutations in Tgif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Tgif1	APN	17	71,153,235 (GRCm39)	missense	probably damaging	1.00
IGL03179:Tgif1	APN	17	71,151,942 (GRCm39)	missense	possibly damaging	0.80
R0050:Tgif1	UTSW	17	71,157,879 (GRCm39)	missense	probably damaging	1.00
R4569:Tgif1	UTSW	17	71,151,912 (GRCm39)	missense	possibly damaging	0.51
R4877:Tgif1	UTSW	17	71,156,700 (GRCm39)	splice site	probably null
R4914:Tgif1	UTSW	17	71,152,242 (GRCm39)	missense	probably damaging	1.00
R4985:Tgif1	UTSW	17	71,151,867 (GRCm39)	missense	probably benign	0.02
R5272:Tgif1	UTSW	17	71,153,249 (GRCm39)	missense	probably damaging	1.00
R5760:Tgif1	UTSW	17	71,151,996 (GRCm39)	missense	probably damaging	1.00
R6270:Tgif1	UTSW	17	71,151,861 (GRCm39)	splice site	probably null
R6528:Tgif1	UTSW	17	71,153,555 (GRCm39)	intron	probably benign
R6693:Tgif1	UTSW	17	71,157,885 (GRCm39)	start gained	probably benign
R7231:Tgif1	UTSW	17	71,153,168 (GRCm39)	missense	probably damaging	1.00
R7319:Tgif1	UTSW	17	71,151,847 (GRCm39)	missense	probably damaging	0.99
R7776:Tgif1	UTSW	17	71,158,452 (GRCm39)	unclassified	probably benign
R7818:Tgif1	UTSW	17	71,156,603 (GRCm39)	splice site	probably null
R8100:Tgif1	UTSW	17	71,153,544 (GRCm39)	intron	probably benign
R9051:Tgif1	UTSW	17	71,151,882 (GRCm39)	missense

Posted On

2016-08-02