Mutagenetix > Incidental Mutation

Incidental Mutation 'R5272:Tgif1'

400451

Institutional Source

Beutler Lab

Gene Symbol

Tgif1

Ensembl Gene

ENSMUSG00000047407

Gene Name

TGFB-induced factor homeobox 1

Synonyms

Tgif

MMRRC Submission

042836-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71151200-71160527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71153249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 34 (L34P)

Ref Sequence

ENSEMBL: ENSMUSP00000127139 (fasta)

Gene Model

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

AlphaFold

P70284

Predicted Effect

probably damaging
Transcript: ENSMUST00000059775
AA Change: L54P

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

SMART Domains

Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: L54P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118283
AA Change: L34P

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

SMART Domains

Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: L34P

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

probably damaging
Transcript: ENSMUST00000127719
AA Change: L34P

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

SMART Domains

Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: L34P

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

unknown
Transcript: ENSMUST00000134654
AA Change: L34P

SMART Domains

Protein: ENSMUSP00000125247
Gene: ENSMUSG00000047407
AA Change: L34P

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 damaging
Transcript: ENSMUST00000135007
AA Change: L34P

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

SMART Domains

Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407
AA Change: L34P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166395
AA Change: L87P

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

SMART Domains

Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: L87P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186358
AA Change: L54P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407
AA Change: L54P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172229
AA Change: L34P

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

SMART Domains

Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: L34P

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

Predicted Effect

unknown
Transcript: ENSMUST00000156484
AA Change: L24P

SMART Domains

Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407
AA Change: L24P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190687

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	G	3: 32,772,759 (GRCm39)	E245G	probably damaging	Het
Arsb	A	T	13: 93,930,670 (GRCm39)	T213S	possibly damaging	Het
Cep152	G	A	2: 125,452,950 (GRCm39)	T374I	probably benign	Het
Crx	C	T	7: 15,602,210 (GRCm39)	C156Y	probably damaging	Het
Csmd1	T	A	8: 16,249,958 (GRCm39)	T1007S	probably damaging	Het
Cyp19a1	A	T	9: 54,083,898 (GRCm39)	C164S	probably benign	Het
Ddx55	A	T	5: 124,696,092 (GRCm39)	I137F	possibly damaging	Het
Dgkg	C	A	16: 22,407,044 (GRCm39)		probably null	Het
Dicer1	A	G	12: 104,670,499 (GRCm39)	I1022T	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Dnah5	T	C	15: 28,350,811 (GRCm39)	V2611A	probably benign	Het
Dnah6	A	G	6: 73,104,844 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,240,985 (GRCm39)	K170*	probably null	Het
Fibcd1	A	T	2: 31,706,635 (GRCm39)	C399S	probably damaging	Het
Fibcd1	G	T	2: 31,706,636 (GRCm39)	N398K	probably damaging	Het
Fnbp4	G	A	2: 90,583,459 (GRCm39)	M327I	probably benign	Het
Fryl	A	T	5: 73,222,479 (GRCm39)	L256*	probably null	Het
Galr1	T	A	18: 82,423,761 (GRCm39)	Y172F	probably benign	Het
Gpi1	T	C	7: 33,920,115 (GRCm39)	N186S	probably damaging	Het
Kcnh8	A	G	17: 53,212,043 (GRCm39)	I614V	probably damaging	Het
Krt23	A	T	11: 99,369,099 (GRCm39)	I398N	probably damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Mup6	G	C	4: 60,005,922 (GRCm39)	G138A	probably damaging	Het
Nectin3	A	G	16: 46,268,839 (GRCm39)	V521A	possibly damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nphs1	A	G	7: 30,181,067 (GRCm39)	E1096G	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Panx1	C	T	9: 14,956,152 (GRCm39)		probably null	Het
Pcdhb4	A	G	18: 37,440,819 (GRCm39)	Y43C	probably benign	Het
Plbd1	A	G	6: 136,617,156 (GRCm39)	Y62H	probably damaging	Het
Rab40b	A	G	11: 121,248,134 (GRCm39)	V190A	probably damaging	Het
Ryr3	T	C	2: 112,483,558 (GRCm39)	E4063G	probably damaging	Het
Smlr1	T	C	10: 25,411,925 (GRCm39)	I21V	probably benign	Het
Tenm4	T	A	7: 96,523,410 (GRCm39)	Y1614N	probably damaging	Het
Tesmin	C	A	19: 3,456,992 (GRCm39)	A257E	probably damaging	Het
Ticrr	C	A	7: 79,319,353 (GRCm39)	T446K	probably benign	Het
Tmc7	A	G	7: 118,160,276 (GRCm39)	I187T	probably benign	Het
Tpst2	T	A	5: 112,455,818 (GRCm39)	V119E	probably damaging	Het
Trf	A	T	9: 103,105,177 (GRCm39)	M45K	probably damaging	Het
Trim45	T	C	3: 100,837,235 (GRCm39)	C524R	probably damaging	Het
Ttc27	G	A	17: 75,049,972 (GRCm39)	V293I	probably damaging	Het
Ugt1a6b	C	T	1: 88,034,949 (GRCm39)	R96C	possibly damaging	Het
Vit	A	G	17: 78,894,264 (GRCm39)	Q222R	probably benign	Het
Zfp148	T	A	16: 33,316,594 (GRCm39)	V380D	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
IGL03169:Tgif1	APN	17	71,151,836 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- GCACACAGGAATGCTATAAATTGTC -3'
(R):5'- GTTTCCCTGCTGGTGAAAGC -3'

Sequencing Primer
(F):5'- AAAGTGTATGTATAGGTTAGGGGC -3'
(R):5'- CTGGTGAAAGCAAGTGACCGC -3'

Posted On

2016-07-06