Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Tgif1'

412118

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 #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

71151200-71160527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71151942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 170 (Q170R)

Ref Sequence

ENSEMBL: ENSMUSP00000115375 (fasta)

Gene Model

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

AlphaFold

P70284

Predicted Effect

probably benign
Transcript: ENSMUST00000059775
AA Change: Q190R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: Q190R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118283
AA Change: Q170R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: Q170R

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: Q170R

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: Q170R

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

probably benign
Transcript: ENSMUST00000166395
AA Change: Q223R

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: Q223R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172229
AA Change: Q170R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: Q170R

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
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Cep290	T	A	10: 100,403,950 (GRCm39)	I2317N	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gm21985	G	A	2: 112,188,900 (GRCm39)	V1078I	possibly damaging	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Ppp4r3c2	G	A	X: 88,796,434 (GRCm39)	G89S	possibly damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Rnf135	T	A	11: 80,084,837 (GRCm39)	S203R	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,720,086 (GRCm39)	I193V	possibly 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
IGL03169:Tgif1	APN	17	71,151,836 (GRCm39)	missense	possibly damaging	0.93
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