Incidental Mutation 'R9282:Usf1'
ID 703673
Institutional Source Beutler Lab
Gene Symbol Usf1
Ensembl Gene ENSMUSG00000026641
Gene Name upstream transcription factor 1
Synonyms bHLHb11, upstream stimulatory factor
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # R9282 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171238875-171246327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171243373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 50 (V50D)
Ref Sequence ENSEMBL: ENSMUSP00000125729 (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: V50D

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641
AA Change: V50D

DomainStartEndE-ValueType
low complexity region 121 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160486
AA Change: V50D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641
AA Change: V50D

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 possibly damaging
Transcript: ENSMUST00000161241
AA Change: V50D

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641
AA Change: V50D

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 possibly damaging
Transcript: ENSMUST00000167546
AA Change: V50D

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641
AA Change: V50D

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: ENSMUST00000171362
SMART Domains Protein: ENSMUSP00000132771
Gene: ENSMUSG00000103711

DomainStartEndE-ValueType
RHOD 25 133 2.05e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp G A 16: 56,440,867 (GRCm39) V701M unknown Het
Adam2 G A 14: 66,267,238 (GRCm39) P674S probably benign Het
Adam24 T A 8: 41,133,674 (GRCm39) Y381N probably damaging Het
Adgrv1 A G 13: 81,251,491 (GRCm39) S6209P probably damaging Het
Aox4 A T 1: 58,285,028 (GRCm39) K593N possibly damaging Het
Aqp3 A G 4: 41,093,640 (GRCm39) V258A possibly damaging Het
Atg16l1 T A 1: 87,707,906 (GRCm39) F390I possibly damaging Het
B4galt6 T A 18: 20,825,509 (GRCm39) Y239F possibly damaging Het
Cmtr2 T C 8: 110,948,977 (GRCm39) M429T probably benign Het
Col5a2 C G 1: 45,478,029 (GRCm39) probably null Het
Dcc T C 18: 71,815,249 (GRCm39) D375G possibly damaging Het
Dnah14 T C 1: 181,642,077 (GRCm39) Y31H Het
Fam131a G A 16: 20,520,243 (GRCm39) R232H possibly damaging Het
Fam186a A G 15: 99,839,879 (GRCm39) Y2122H probably damaging Het
Focad A T 4: 88,115,059 (GRCm39) I421F unknown Het
Fscb T G 12: 64,520,097 (GRCm39) E456D possibly damaging Het
Furin C A 7: 80,040,846 (GRCm39) S664I probably benign Het
Ganc A G 2: 120,290,381 (GRCm39) E906G probably benign Het
Gdf5 C G 2: 155,783,915 (GRCm39) D346H probably damaging Het
Golga4 T C 9: 118,385,893 (GRCm39) L1005P probably damaging Het
Ifit1bl1 T C 19: 34,571,908 (GRCm39) N183S probably benign Het
Itpr1 T A 6: 108,370,984 (GRCm39) F1084I probably damaging Het
Katnal1 A T 5: 148,831,021 (GRCm39) Y184* probably null Het
Lrrc37a A G 11: 103,391,633 (GRCm39) I1264T probably benign Het
Map3k2 T A 18: 32,342,805 (GRCm39) M234K probably damaging Het
Mcm3ap T A 10: 76,342,352 (GRCm39) V1615E probably damaging Het
Mkrn2 A G 6: 115,591,534 (GRCm39) probably null Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nradd T A 9: 110,450,751 (GRCm39) Q142L possibly damaging Het
Ophn1 G A X: 97,622,145 (GRCm39) T668M probably benign Het
Or56b35 T C 7: 104,963,781 (GRCm39) I190T probably benign Het
Pdzd7 A G 19: 45,028,622 (GRCm39) F174L probably damaging Het
Pi4k2b C T 5: 52,900,879 (GRCm39) T99I probably benign Het
Pigv A T 4: 133,391,973 (GRCm39) V399D probably damaging Het
Pla2g4a C A 1: 149,747,207 (GRCm39) L326F probably damaging Het
Psmg1 T C 16: 95,790,717 (GRCm39) I73M probably damaging Het
Rcl1 T C 19: 29,093,170 (GRCm39) S62P probably damaging Het
Slc23a4 T A 6: 34,955,861 (GRCm39) I58F probably damaging Het
Slc36a2 G T 11: 55,060,837 (GRCm39) T191K probably benign Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tbc1d30 T C 10: 121,142,128 (GRCm39) probably null Het
Tbc1d4 A G 14: 101,845,616 (GRCm39) V94A possibly damaging Het
Tdrd5 T C 1: 156,105,030 (GRCm39) Y532C probably benign Het
Tll2 T A 19: 41,074,772 (GRCm39) I931L probably benign Het
Tlr3 T C 8: 45,851,643 (GRCm39) N418S probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tshr T A 12: 91,474,518 (GRCm39) M164K possibly damaging Het
Ttc21b A G 2: 66,056,349 (GRCm39) V679A possibly damaging Het
Ttn A G 2: 76,730,861 (GRCm39) Y4951H unknown Het
Utp6 A T 11: 79,826,851 (GRCm39) M575K probably benign Het
Vmn1r197 A T 13: 22,512,608 (GRCm39) R176S possibly damaging Het
Vmn2r104 A T 17: 20,261,098 (GRCm39) F442I probably damaging Het
Vmn2r94 A G 17: 18,497,751 (GRCm39) F7S possibly damaging Het
Vps41 G T 13: 19,013,401 (GRCm39) E340* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACCGTGTGTCTTTTAAGTGCC -3'
(R):5'- GACTCAGCAACTGTCCCTTGTC -3'

Sequencing Primer
(F):5'- GTCTTTTAAGTGCCATGCAAGTAG -3'
(R):5'- AGGCTTTAGCATATCCAGCC -3'
Posted On 2022-03-25