Mutagenetix > Incidental Mutation

Incidental Mutation 'R5760:Tgif1'

445269

Institutional Source

Beutler Lab

Gene Symbol

Tgif1

Ensembl Gene

ENSMUSG00000047407

Gene Name

TGFB-induced factor homeobox 1

Synonyms

Tgif

MMRRC Submission

043362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5760 (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 71151996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000127139 (fasta)

Gene Model

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

AlphaFold

P70284

Predicted Effect

probably damaging
Transcript: ENSMUST00000059775
AA Change: V172A

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

SMART Domains

Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: V172A

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: V152A

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

SMART Domains

Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: V152A

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: V152A

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

SMART Domains

Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: V152A

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 damaging
Transcript: ENSMUST00000135007
AA Change: V152A

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

SMART Domains

Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407
AA Change: V152A

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: V205A

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

SMART Domains

Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: V205A

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: ENSMUST00000172229
AA Change: V152A

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

SMART Domains

Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: V152A

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

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.3%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,835 (GRCm39)		probably benign	Het
Abl2	C	T	1: 156,469,427 (GRCm39)	T793M	probably benign	Het
Accs	A	C	2: 93,676,105 (GRCm39)	L90R	probably damaging	Het
Ahnak	A	T	19: 8,990,926 (GRCm39)	D4070V	probably damaging	Het
Apbb2	A	G	5: 66,520,100 (GRCm39)	V475A	probably benign	Het
Atp10d	T	A	5: 72,418,280 (GRCm39)	V602E	probably benign	Het
Cdh23	C	T	10: 60,242,171 (GRCm39)	V1088M	probably damaging	Het
Dennd6a	A	T	14: 26,333,195 (GRCm39)	I144L	probably damaging	Het
Dnajc6	G	A	4: 101,475,839 (GRCm39)	A571T	probably benign	Het
Drap1	A	G	19: 5,474,391 (GRCm39)	I18T	probably damaging	Het
En2	C	A	5: 28,371,997 (GRCm39)	A158D	probably benign	Het
Fbn1	C	T	2: 125,203,167 (GRCm39)	G1219R	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm7535	C	T	17: 18,132,080 (GRCm39)		probably benign	Het
Hao2	A	T	3: 98,787,748 (GRCm39)	L227*	probably null	Het
Hdlbp	C	T	1: 93,368,499 (GRCm39)		probably benign	Het
Hivep3	A	G	4: 119,952,208 (GRCm39)	K175E	possibly damaging	Het
Hmcn2	G	A	2: 31,304,580 (GRCm39)	A3075T	possibly damaging	Het
Igkv6-15	A	T	6: 70,383,516 (GRCm39)	I95N	probably damaging	Het
Itgad	A	T	7: 127,802,537 (GRCm39)	Q1001L	probably benign	Het
Jaml	T	A	9: 45,009,052 (GRCm39)	M151K	probably benign	Het
Lix1	T	A	17: 17,647,499 (GRCm39)	V55D	possibly damaging	Het
Macf1	A	G	4: 123,407,677 (GRCm39)	S179P	probably damaging	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mroh5	A	C	15: 73,693,356 (GRCm39)	I28S	probably damaging	Het
Naip5	T	G	13: 100,379,346 (GRCm39)	K231N	probably damaging	Het
Neb	A	C	2: 52,073,830 (GRCm39)	Y5683D	probably damaging	Het
Npc1l1	A	T	11: 6,179,031 (GRCm39)	H126Q	probably benign	Het
Npm2	A	G	14: 70,886,935 (GRCm39)	F110L	probably damaging	Het
Nsd3	A	T	8: 26,149,772 (GRCm39)	H319L	probably damaging	Het
Nup205	G	A	6: 35,224,278 (GRCm39)	R2039Q	probably damaging	Het
Or10j7	C	A	1: 173,011,318 (GRCm39)	A228S	probably benign	Het
Or6b2b	A	G	1: 92,418,922 (GRCm39)	L185P	possibly damaging	Het
Or7d10	A	C	9: 19,832,050 (GRCm39)	T182P	probably benign	Het
Pcdhac2	G	A	18: 37,279,453 (GRCm39)	G811E	probably damaging	Het
Pkhd1	T	A	1: 20,143,778 (GRCm39)	R3849S	probably benign	Het
Pmfbp1	A	T	8: 110,247,655 (GRCm39)	D317V	probably damaging	Het
Sall1	T	C	8: 89,755,278 (GRCm39)	N1234D	possibly damaging	Het
Slc12a7	T	A	13: 73,961,741 (GRCm39)	V1037D	probably damaging	Het
Slc12a8	G	T	16: 33,445,155 (GRCm39)	E404*	probably null	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tshz3	C	A	7: 36,470,994 (GRCm39)	H994Q	probably damaging	Het
Ubash3b	T	G	9: 40,988,719 (GRCm39)	K62T	probably benign	Het
Ushbp1	G	T	8: 71,840,012 (GRCm39)	D546E	probably damaging	Het
Zfp458	A	C	13: 67,405,853 (GRCm39)	C192W	probably damaging	Het
Zfp808	A	T	13: 62,319,740 (GRCm39)	H323L	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
R5272:Tgif1	UTSW	17	71,153,249 (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'- TAAAATCCTGGTTGAGGTCTGG -3'
(R):5'- TGGGGCCAAGATTTCAGAAGC -3'

Sequencing Primer
(F):5'- AAGACCACTCTGAGGGTTTG -3'
(R):5'- CAGAAGCTAGCTCTATTGAAGCTGC -3'

Posted On

2016-11-21