Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Usf1'

355744

Institutional Source

Beutler Lab

Gene Symbol

Usf1

Ensembl Gene

ENSMUSG00000026641

Gene Name

upstream transcription factor 1

Synonyms

bHLHb11, upstream stimulatory factor

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171411313-171419142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 171416964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 144 (G144V)

Ref Sequence

ENSEMBL: ENSMUSP00000125363 (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

unknown
Transcript: ENSMUST00000159207
AA Change: G144V

SMART Domains

Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641
AA Change: G144V

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: G144V

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641
AA Change: G144V

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 benign
Transcript: ENSMUST00000161241
AA Change: G144V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641
AA Change: G144V

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

probably benign
Transcript: ENSMUST00000167546
AA Change: G144V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641
AA Change: G144V

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 benign
Transcript: ENSMUST00000171362

SMART Domains

Protein: ENSMUSP00000132771
Gene: ENSMUSG00000103711

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194029

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448 (GRCm38)	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284 (GRCm38)	M1T	probably null	Het
Aatf	T	A	11: 84,449,138 (GRCm38)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944 (GRCm38)		probably benign	Het
BC005561	A	G	5: 104,522,240 (GRCm38)	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484 (GRCm38)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749 (GRCm38)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485 (GRCm38)	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753 (GRCm38)	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684 (GRCm38)	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919 (GRCm38)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487 (GRCm38)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408 (GRCm38)		probably null	Het
Ear-ps2	G	A	14: 44,047,060 (GRCm38)		noncoding transcript	Het
Ednra	T	C	8: 77,664,995 (GRCm38)	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640 (GRCm38)	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558 (GRCm38)		probably benign	Het
Gata5	A	T	2: 180,327,379 (GRCm38)	C345*	probably null	Het
Glmp	T	C	3: 88,328,274 (GRCm38)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550 (GRCm38)		noncoding transcript	Het
Gnas	A	T	2: 174,298,080 (GRCm38)	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329 (GRCm38)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466 (GRCm38)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187 (GRCm38)	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694 (GRCm38)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846 (GRCm38)	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734 (GRCm38)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147 (GRCm38)	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326 (GRCm38)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777 (GRCm38)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361 (GRCm38)	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322 (GRCm38)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386 (GRCm38)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521 (GRCm38)	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902 (GRCm38)	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903 (GRCm38)	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934 (GRCm38)	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717 (GRCm38)	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868 (GRCm38)	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208 (GRCm38)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241 (GRCm38)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347 (GRCm38)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071 (GRCm38)	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171 (GRCm38)	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183 (GRCm38)	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801 (GRCm38)	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942 (GRCm38)	R352*	probably null	Het
Sacs	T	C	14: 61,212,747 (GRCm38)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085 (GRCm38)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587 (GRCm38)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284 (GRCm38)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641 (GRCm38)	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037 (GRCm38)	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018 (GRCm38)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516 (GRCm38)	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681 (GRCm38)	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461 (GRCm38)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791 (GRCm38)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030 (GRCm38)		probably null	Het
Txndc11	C	T	16: 11,084,314 (GRCm38)	V679I	probably damaging	Het
Vmn1r59	T	C	7: 5,454,452 (GRCm38)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826 (GRCm38)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960 (GRCm38)	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363 (GRCm38)	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661 (GRCm38)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942 (GRCm38)		noncoding transcript	Het

Other mutations in Usf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Usf1	APN	1	171,417,275 (GRCm38)	missense	probably damaging	0.98
IGL01658:Usf1	APN	1	171,417,299 (GRCm38)	missense	possibly damaging	0.93
IGL01921:Usf1	APN	1	171,416,856 (GRCm38)	missense	possibly damaging	0.94
IGL02307:Usf1	APN	1	171,415,746 (GRCm38)	missense	probably damaging	0.99
R0661:Usf1	UTSW	1	171,417,499 (GRCm38)	missense	probably damaging	0.97
R1075:Usf1	UTSW	1	171,418,109 (GRCm38)	missense	probably benign	0.22
R1652:Usf1	UTSW	1	171,417,749 (GRCm38)	missense	probably damaging	1.00
R2272:Usf1	UTSW	1	171,418,060 (GRCm38)	missense	possibly damaging	0.60
R4999:Usf1	UTSW	1	171,415,763 (GRCm38)	missense	probably damaging	0.98
R5940:Usf1	UTSW	1	171,417,779 (GRCm38)	missense	possibly damaging	0.95
R7430:Usf1	UTSW	1	171,417,727 (GRCm38)	missense	probably benign
R7863:Usf1	UTSW	1	171,417,817 (GRCm38)	nonsense	probably null
R7866:Usf1	UTSW	1	171,417,894 (GRCm38)	missense	unknown
R8966:Usf1	UTSW	1	171,417,533 (GRCm38)	critical splice donor site	probably null
R8972:Usf1	UTSW	1	171,417,784 (GRCm38)	missense	probably damaging	1.00
R9282:Usf1	UTSW	1	171,415,805 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AATGAGTCCCCGACTGACTG -3'
(R):5'- ACCAGTTTGTAAAGCAGCCCAG -3'

Sequencing Primer
(F):5'- TCCCCGACTGACTGGACCC -3'
(R):5'- AGACTCACCACATGTTCTGATCGG -3'

Posted On

2015-10-21