Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00553:Usf1'

7329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usf1

Ensembl Gene

ENSMUSG00000026641

Gene Name

upstream transcription factor 1

Synonyms

bHLHb11, upstream stimulatory factor

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

IGL00553

Quality Score

Status

Chromosome

Chromosomal Location

171238875-171246327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171244843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 169 (V169A)

Ref Sequence

ENSEMBL: ENSMUSP00000128913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001284] [ENSMUST00000159207] [ENSMUST00000160486] [ENSMUST00000161241] [ENSMUST00000167546] [ENSMUST00000171362]

AlphaFold

Q61069

Predicted Effect

probably benign
Transcript: ENSMUST00000001284

Predicted Effect

probably benign
Transcript: ENSMUST00000159207

SMART Domains

Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160335

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160486
AA Change: V169A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641
AA Change: V169A

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161241
AA Change: V169A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641
AA Change: V169A

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167546
AA Change: V169A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641
AA Change: V169A

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193060

Predicted Effect

probably benign
Transcript: ENSMUST00000171362

SMART Domains

Protein: ENSMUSP00000132771
Gene: ENSMUSG00000103711

Domain	Start	End	E-Value	Type
RHOD	25	133	2.05e-14	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This protein encoded by this gene is a member of the basic-Helix-Hoop-Helix-Leucine zipper (bHLH-LZ) family and encodes a protein that can act as a transcription factor. Studies indicate that the basic region interacts with DNA at E-Box motifs, while the helix-loop-helix and leucine zipper domains are involved in dimerization with different partners. This protein is involved in a wide array of biological pathways, including cell cycle regulation, immune response, and responses to ultraviolet radiation. Mice lacking most of the coding exons of this gene often lacked both whiskers and nasal fur, and were prone to epileptic seizures, while mice lacking both this gene and another family member, Usf2, displayed embryonic lethality (PMID:9520440). Mutations in the human ortholog of this gene have been associated with Familial Combined Hyperlipidemia (FCHL) in humans. Pseudogenes of this gene are found on chromosome 11 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous null mutants exhibit slight behavioral abnormalities. Females exhibit barbering and some have seizures. This knockout mutation (heterozygous or homozygous) acts as an enhancer of a null mutation of Usf2, resulting in embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,457,453 (GRCm39)	I234V	probably benign	Het
Arid4a	T	C	12: 71,122,751 (GRCm39)	L1044P	probably benign	Het
Bcl9	A	T	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bptf	G	A	11: 106,946,105 (GRCm39)	T2263I	possibly damaging	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Glipr1	T	C	10: 111,822,574 (GRCm39)	N47S	possibly damaging	Het
Ifi35	A	G	11: 101,348,152 (GRCm39)	E86G	probably damaging	Het
Mx1	T	A	16: 97,258,632 (GRCm39)	I22F	probably damaging	Het
Nr2f1	A	G	13: 78,346,361 (GRCm39)	V111A	probably damaging	Het
Pdgfrb	A	T	18: 61,202,008 (GRCm39)	E524V	probably benign	Het
Rspo3	A	G	10: 29,330,148 (GRCm39)		probably benign	Het
Setdb2	C	T	14: 59,653,241 (GRCm39)	V354M	probably damaging	Het
Slc28a3	A	G	13: 58,710,823 (GRCm39)		probably null	Het
Stau1	T	C	2: 166,793,254 (GRCm39)	K294E	possibly damaging	Het
Susd3	A	T	13: 49,384,614 (GRCm39)	*270R	probably null	Het
Ttc39b	T	C	4: 83,162,276 (GRCm39)		probably benign	Het
Usp8	T	C	2: 126,600,480 (GRCm39)	L1077P	probably damaging	Het
Vsnl1	A	G	12: 11,382,190 (GRCm39)	F64L	probably damaging	Het
Zmiz1	T	A	14: 25,572,494 (GRCm39)	M1K	probably null	Het

Other mutations in Usf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Usf1	APN	1	171,244,867 (GRCm39)	missense	possibly damaging	0.93
IGL01921:Usf1	APN	1	171,244,424 (GRCm39)	missense	possibly damaging	0.94
IGL02307:Usf1	APN	1	171,243,314 (GRCm39)	missense	probably damaging	0.99
R0661:Usf1	UTSW	1	171,245,067 (GRCm39)	missense	probably damaging	0.97
R1075:Usf1	UTSW	1	171,245,677 (GRCm39)	missense	probably benign	0.22
R1652:Usf1	UTSW	1	171,245,317 (GRCm39)	missense	probably damaging	1.00
R2272:Usf1	UTSW	1	171,245,628 (GRCm39)	missense	possibly damaging	0.60
R4697:Usf1	UTSW	1	171,244,532 (GRCm39)	missense	possibly damaging	0.55
R4999:Usf1	UTSW	1	171,243,331 (GRCm39)	missense	probably damaging	0.98
R5940:Usf1	UTSW	1	171,245,347 (GRCm39)	missense	possibly damaging	0.95
R7430:Usf1	UTSW	1	171,245,295 (GRCm39)	missense	probably benign
R7863:Usf1	UTSW	1	171,245,385 (GRCm39)	nonsense	probably null
R7866:Usf1	UTSW	1	171,245,462 (GRCm39)	missense	unknown
R8966:Usf1	UTSW	1	171,245,101 (GRCm39)	critical splice donor site	probably null
R8972:Usf1	UTSW	1	171,245,352 (GRCm39)	missense	probably damaging	1.00
R9282:Usf1	UTSW	1	171,243,373 (GRCm39)	missense	possibly damaging	0.91

Posted On

2012-04-20