Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Tef'

367199

Institutional Source

Beutler Lab

Gene Symbol

Tef

Ensembl Gene

ENSMUSG00000022389

Gene Name

thyrotroph embryonic factor

Synonyms

2310028D20Rik

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.644) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81686874-81711064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81707758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 261 (I261N)

Ref Sequence

ENSEMBL: ENSMUSP00000023024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023024] [ENSMUST00000109553] [ENSMUST00000168200]

AlphaFold

Q9JLC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023024
AA Change: I261N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023024
Gene: ENSMUSG00000022389
AA Change: I261N

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	131	145	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
BRLZ	229	293	1.87e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109553
AA Change: I245N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105180
Gene: ENSMUSG00000022389
AA Change: I245N

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
low complexity region	48	59	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	134	143	N/A	INTRINSIC
BRLZ	213	277	1.87e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167138

Predicted Effect

probably benign
Transcript: ENSMUST00000168200

SMART Domains

Protein: ENSMUSP00000132026
Gene: ENSMUSG00000022389

Domain	Start	End	E-Value	Type
low complexity region	62	76	N/A	INTRINSIC
low complexity region	81	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168632

Meta Mutation Damage Score

0.5510

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutant are subject to seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,199,008 (GRCm39)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Amy2b	T	C	3: 113,058,634 (GRCm39)		noncoding transcript	Het
Anxa1	T	A	19: 20,351,118 (GRCm39)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,200,761 (GRCm39)	T310A	possibly damaging	Het
BC002059	G	A	17: 17,193,810 (GRCm39)		noncoding transcript	Het
Ccdc40	A	G	11: 119,144,447 (GRCm39)	D924G	possibly damaging	Het
Ccm2l	A	T	2: 152,921,422 (GRCm39)	M433L	probably benign	Het
Cd209e	T	C	8: 3,901,181 (GRCm39)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,194,955 (GRCm39)	R153H	unknown	Het
Cfap69	A	G	5: 5,696,934 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,280 (GRCm39)	T923A	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,500,248 (GRCm39)	F216S	probably damaging	Het
Dysf	T	A	6: 84,180,310 (GRCm39)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,523,725 (GRCm39)	P467S	probably benign	Het
Extl1	G	A	4: 134,091,978 (GRCm39)	L292F	probably damaging	Het
Fsd1	A	G	17: 56,303,257 (GRCm39)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,876,803 (GRCm39)		noncoding transcript	Het
Gm8894	A	G	14: 55,658,172 (GRCm39)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,314,921 (GRCm39)	S942N	probably benign	Het
Gvin-ps3	T	C	7: 105,681,041 (GRCm39)		noncoding transcript	Het
H2-Ab1	A	T	17: 34,486,441 (GRCm39)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,432,134 (GRCm39)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,228,752 (GRCm39)	V171I	probably benign	Het
Il31ra	C	T	13: 112,664,079 (GRCm39)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,385,261 (GRCm39)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,126,813 (GRCm39)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,668,081 (GRCm39)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,548,175 (GRCm39)		probably benign	Het
Ldhb-ps	C	A	19: 21,915,601 (GRCm39)		noncoding transcript	Het
Lipo3	T	A	19: 33,757,749 (GRCm39)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,059,461 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,597,031 (GRCm39)	D541G	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Meig1	A	G	2: 3,410,251 (GRCm39)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,797,822 (GRCm39)	C34W	probably damaging	Het
Nup205	T	A	6: 35,178,996 (GRCm39)	C689S	probably damaging	Het
Or4c104	T	A	2: 88,586,219 (GRCm39)	K267*	probably null	Het
Or52u1	T	C	7: 104,237,167 (GRCm39)	M52T	probably benign	Het
Or5d35	T	C	2: 87,855,204 (GRCm39)	M46T	possibly damaging	Het
Or6a2	G	A	7: 106,600,293 (GRCm39)	A258V	probably benign	Het
Pdgfrb	A	C	18: 61,212,759 (GRCm39)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,115,979 (GRCm39)	E626G	probably damaging	Het
Ppfia3	C	A	7: 44,990,050 (GRCm39)	A1159S	possibly damaging	Het
Pramel32	T	A	4: 88,547,450 (GRCm39)	K74*	probably null	Het
Prex1	A	G	2: 166,480,260 (GRCm39)	V160A	probably benign	Het
Psmb7	C	T	2: 38,478,283 (GRCm39)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,547,435 (GRCm39)		probably null	Het
Rfc5	T	C	5: 117,520,485 (GRCm39)	T236A	probably benign	Het
Sdk1	G	T	5: 141,568,168 (GRCm39)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,792,195 (GRCm39)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,888,347 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm39)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,711,765 (GRCm39)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,488 (GRCm39)	P392S	probably benign	Het
Tmbim1	T	C	1: 74,334,519 (GRCm39)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,404,312 (GRCm39)	K121R	probably benign	Het
Trim36	C	A	18: 46,305,599 (GRCm39)	M461I	probably benign	Het
Trpc1	T	A	9: 95,603,468 (GRCm39)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,173,760 (GRCm39)	D84A	probably benign	Het
Twf1	G	T	15: 94,482,315 (GRCm39)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,392 (GRCm39)	C184R	probably damaging	Het
Unc79	C	T	12: 103,013,257 (GRCm39)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm39)	C49R	probably benign	Het
Wdr11	T	A	7: 129,210,658 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,152,816 (GRCm39)	M97K	possibly damaging	Het

Other mutations in Tef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Tef	APN	15	81,699,384 (GRCm39)	missense	probably benign	0.00
IGL02303:Tef	APN	15	81,705,496 (GRCm39)	missense	probably benign	0.01
IGL02399:Tef	APN	15	81,699,301 (GRCm39)	missense	probably damaging	1.00
R4015:Tef	UTSW	15	81,707,806 (GRCm39)	missense	probably damaging	0.99
R4786:Tef	UTSW	15	81,699,453 (GRCm39)	missense	probably benign	0.45
R8515:Tef	UTSW	15	81,687,037 (GRCm39)	missense	possibly damaging	0.90
R8677:Tef	UTSW	15	81,699,169 (GRCm39)	missense	probably damaging	0.96
R9000:Tef	UTSW	15	81,695,773 (GRCm39)	start codon destroyed	probably null	0.33

Predicted Primers

PCR Primer
(F):5'- ACAACGTTGAACTATGTGCAG -3'
(R):5'- TCCTAAGTCTCCACACGAGTG -3'

Sequencing Primer
(F):5'- CGTTGAACTATGTGCAGAGGAG -3'
(R):5'- ACACGAGTGGGGTCCAG -3'

Posted On

2015-12-29