Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Tgif1'

342041

Institutional Source

Beutler Lab

Gene Symbol

Tgif1

Ensembl Gene

ENSMUSG00000047407

Gene Name

TGFB-induced factor homeobox 1

Synonyms

Tgif

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71151200-71160527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71151912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 233 (V233E)

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

probably benign
Transcript: ENSMUST00000059775
AA Change: V200E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: V200E

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: V180E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: V180E

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 benign
Transcript: ENSMUST00000127719
AA Change: V180E

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: V180E

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: V233E

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: V233E

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: V180E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: V180E

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: ENSMUST00000156484

SMART Domains

Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407

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

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGAGTTTGGCCTGAAGC -3'
(R):5'- GAGCCCATTTCATTCCTGCG -3'

Sequencing Primer
(F):5'- TCGTTTGAGTGCAACATCCACTAG -3'
(R):5'- ATTCCTGCGTAGTTGGACC -3'

Posted On

2015-09-24