Incidental Mutation 'R1075:Usf1'
ID 85586
Institutional Source Beutler Lab
Gene Symbol Usf1
Ensembl Gene ENSMUSG00000026641
Gene Name upstream transcription factor 1
Synonyms bHLHb11, upstream stimulatory factor
MMRRC Submission 039161-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # R1075 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171238875-171246327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171245677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 307 (N307K)
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000160486
SMART Domains Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641

DomainStartEndE-ValueType
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: N307K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641
AA Change: N307K

DomainStartEndE-ValueType
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: ENSMUST00000167546
AA Change: N307K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641
AA Change: N307K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RHOD 25 133 2.05e-14 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T C 4: 32,822,232 (GRCm39) H179R probably damaging Het
Apbb2 G T 5: 66,460,021 (GRCm39) P692Q probably damaging Het
Arhgap40 A G 2: 158,391,567 (GRCm39) N627D possibly damaging Het
Asns G A 6: 7,676,076 (GRCm39) R465* probably null Het
Bdkrb1 G A 12: 105,570,562 (GRCm39) V43I probably benign Het
Bod1 T C 11: 31,621,514 (GRCm39) D63G possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Csnka2ip T A 16: 64,298,310 (GRCm39) K685* probably null Het
Dennd5a A T 7: 109,517,808 (GRCm39) D609E probably benign Het
Dhx34 G C 7: 15,952,274 (GRCm39) T117S probably benign Het
Dpp4 A T 2: 62,182,630 (GRCm39) D550E probably benign Het
Enah C T 1: 181,784,066 (GRCm39) R81K unknown Het
Epha5 G T 5: 84,298,254 (GRCm39) A383E probably damaging Het
Epha5 C T 5: 84,298,255 (GRCm39) A383T probably damaging Het
Etnppl A T 3: 130,423,212 (GRCm39) M298L probably benign Het
Fam81a G A 9: 70,017,556 (GRCm39) R130* probably null Het
Fbxl3 A C 14: 103,332,839 (GRCm39) H46Q probably benign Het
Gal3st1 A G 11: 3,948,509 (GRCm39) I239V possibly damaging Het
H2-T15 C T 17: 36,367,038 (GRCm39) G335D probably benign Het
Htra4 T C 8: 25,523,612 (GRCm39) I318V probably benign Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Il7r T C 15: 9,516,543 (GRCm39) N86S probably benign Het
Mettl17 A G 14: 52,127,063 (GRCm39) N231D probably benign Het
Mki67 T C 7: 135,299,040 (GRCm39) D1998G probably benign Het
Myh15 G T 16: 48,940,417 (GRCm39) R789L possibly damaging Het
Myh7 A G 14: 55,224,860 (GRCm39) V569A probably benign Het
Nell1 A G 7: 50,503,588 (GRCm39) I617M probably damaging Het
Nlrp1b C G 11: 71,072,512 (GRCm39) E444Q probably benign Het
Or10ak16 T C 4: 118,750,402 (GRCm39) S41P probably damaging Het
Or2b4 T A 17: 38,116,660 (GRCm39) L208* probably null Het
Or2y8 T A 11: 52,035,677 (GRCm39) I227F possibly damaging Het
Psmd2 T C 16: 20,478,709 (GRCm39) S603P probably damaging Het
Slc4a2 T A 5: 24,644,055 (GRCm39) I913N possibly damaging Het
Smyd4 T C 11: 75,291,164 (GRCm39) Y589H probably damaging Het
Spag17 A G 3: 100,000,992 (GRCm39) E1850G probably damaging Het
Srsf11 A T 3: 157,718,427 (GRCm39) probably benign Het
Stra6 A T 9: 58,058,687 (GRCm39) N488I possibly damaging Het
Supt20 C T 3: 54,614,362 (GRCm39) Q160* probably null Het
Tbc1d2b G A 9: 90,104,393 (GRCm39) P583L possibly damaging Het
Uchl1 T A 5: 66,839,808 (GRCm39) F117I probably damaging Het
Zfp994 T A 17: 22,419,926 (GRCm39) H341L probably damaging Het
Other mutations in Usf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGAAAACACTTGCCATTGTCCCTC -3'
(R):5'- CAGATTCAGTGTGTCCAGTGTCCAG -3'

Sequencing Primer
(F):5'- ATTGTCCCTCTTGGCTGTG -3'
(R):5'- TCCAGTGTCCAGCAAGGAG -3'
Posted On 2013-11-18