Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01921:Usf1'

180114

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: 0.915) question?

Stock #

IGL01921

Quality Score

Status

Chromosome

Chromosomal Location

171238875-171246327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171244424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

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

possibly damaging
Transcript: ENSMUST00000159207
AA Change: E108G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641
AA Change: E108G

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: E108G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641
AA Change: E108G

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

possibly damaging
Transcript: ENSMUST00000161241
AA Change: E108G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641
AA Change: E108G

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

possibly damaging
Transcript: ENSMUST00000167546
AA Change: E108G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641
AA Change: E108G

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: ENSMUST00000193060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194029

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	A	8: 44,078,548 (GRCm39)	V559L	probably damaging	Het
Agtpbp1	T	C	13: 59,660,297 (GRCm39)	T310A	possibly damaging	Het
Ccdc102a	T	C	8: 95,640,019 (GRCm39)	T92A	probably damaging	Het
Ciao1	C	T	2: 127,084,755 (GRCm39)	V328I	probably benign	Het
Col12a1	T	A	9: 79,557,299 (GRCm39)	Q1943L	possibly damaging	Het
Diaph1	T	C	18: 37,989,261 (GRCm39)	D898G	possibly damaging	Het
Dio3	A	T	12: 110,245,789 (GRCm39)	T42S	possibly damaging	Het
Dnah8	T	A	17: 30,955,115 (GRCm39)	I2048N	probably benign	Het
Egr2	T	A	10: 67,376,208 (GRCm39)		probably null	Het
Epc2	T	A	2: 49,422,209 (GRCm39)	Y368N	probably damaging	Het
Furin	A	G	7: 80,045,702 (GRCm39)		probably benign	Het
Gga1	T	C	15: 78,777,995 (GRCm39)	M620T	possibly damaging	Het
Gm21976	T	A	13: 98,441,829 (GRCm39)	Y45*	probably null	Het
Gpn1	T	C	5: 31,656,612 (GRCm39)	V105A	probably damaging	Het
Hoxb8	A	T	11: 96,175,181 (GRCm39)	N206I	probably damaging	Het
Kif15	T	A	9: 122,808,569 (GRCm39)	L67Q	probably damaging	Het
Krt40	T	A	11: 99,433,989 (GRCm39)		probably benign	Het
Mat1a	T	C	14: 40,836,292 (GRCm39)		probably benign	Het
Mkrn1	T	C	6: 39,382,847 (GRCm39)	D99G	possibly damaging	Het
Plxnb2	T	C	15: 89,048,474 (GRCm39)	Y645C	possibly damaging	Het
Ppp1r13b	A	G	12: 111,799,671 (GRCm39)	V702A	probably benign	Het
Ppp4r4	G	T	12: 103,542,569 (GRCm39)	M1I	probably null	Het
Prss21	T	A	17: 24,091,414 (GRCm39)	M217K	possibly damaging	Het
R3hcc1l	A	G	19: 42,552,220 (GRCm39)	S406G	possibly damaging	Het
Rfesd	T	C	13: 76,156,385 (GRCm39)	E7G	probably benign	Het
Ripk4	T	C	16: 97,544,565 (GRCm39)	E694G	possibly damaging	Het
Rlf	T	C	4: 121,003,943 (GRCm39)	D1679G	probably damaging	Het
Ryr2	C	T	13: 11,569,436 (GRCm39)	C4956Y	possibly damaging	Het
Scart1	G	T	7: 139,808,632 (GRCm39)	E848*	probably null	Het
Uri1	T	A	7: 37,681,072 (GRCm39)	K111*	probably null	Het
Vmn1r71	C	A	7: 10,482,199 (GRCm39)	R163L	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r86	T	C	10: 130,291,610 (GRCm39)	T52A	probably benign	Het
Washc5	A	T	15: 59,213,958 (GRCm39)		probably null	Het
Zfp583	T	C	7: 6,328,569 (GRCm39)	T7A	possibly damaging	Het
Zim1	T	G	7: 6,685,184 (GRCm39)		probably benign	Het

Other mutations in Usf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Usf1	APN	1	171,244,843 (GRCm39)	missense	probably damaging	0.98
IGL01658:Usf1	APN	1	171,244,867 (GRCm39)	missense	possibly damaging	0.93
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

2014-05-07