Incidental Mutation 'IGL02756:Usf2'
ID306461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usf2
Ensembl Gene ENSMUSG00000058239
Gene Nameupstream transcription factor 2
SynonymsUsf-2, bHLHb12
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.486) question?
Stock #IGL02756
Quality Score
Status
Chromosome7
Chromosomal Location30945248-30956803 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 30946992 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 134 (C134*)
Ref Sequence ENSEMBL: ENSMUSP00000132833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058860] [ENSMUST00000062620] [ENSMUST00000108119] [ENSMUST00000162228] [ENSMUST00000170699] [ENSMUST00000172417]
Predicted Effect probably null
Transcript: ENSMUST00000058860
AA Change: C265*
SMART Domains Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
AA Change: C265*

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 241 296 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062620
SMART Domains Protein: ENSMUSP00000055404
Gene: ENSMUSG00000050440

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Hepcidin 32 83 3.7e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108119
AA Change: C198*
SMART Domains Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
AA Change: C198*

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 174 229 1.36e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162228
AA Change: C238*
SMART Domains Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
AA Change: C238*

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 214 269 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169496
Predicted Effect probably null
Transcript: ENSMUST00000170442
AA Change: C219*
SMART Domains Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
AA Change: C219*

DomainStartEndE-ValueType
low complexity region 41 65 N/A INTRINSIC
HLH 196 243 1.83e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171338
Predicted Effect probably null
Transcript: ENSMUST00000172417
AA Change: C134*
SMART Domains Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239
AA Change: C134*

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 110 165 1.36e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206970
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mutants are 20-40% smaller at birth and > 50% die postnatally, possibly because they are unable to nurse. In survivors, a proportionate dwarfism is maintained into adulthood. Males are usually infertile and die before 6 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,165,108 D54V probably damaging Het
Adamts18 C A 8: 113,714,344 probably benign Het
Angptl3 T A 4: 99,031,162 L53Q probably damaging Het
Apc A G 18: 34,314,535 T1461A probably damaging Het
Arl11 T A 14: 61,311,086 V115D probably damaging Het
Cabp4 C A 19: 4,138,561 V173L possibly damaging Het
Casq1 T A 1: 172,215,105 D230V probably damaging Het
Cdc42bpa A G 1: 180,109,259 I821V possibly damaging Het
Cfap65 T C 1: 74,905,080 Y1494C probably benign Het
Chd1 T A 17: 15,730,807 S215T probably damaging Het
Csf2rb2 T C 15: 78,284,849 E593G possibly damaging Het
Cstf1 A G 2: 172,375,875 D136G probably damaging Het
Ddx19b T C 8: 111,011,278 probably benign Het
Dido1 A T 2: 180,661,923 L1396Q probably benign Het
Ermn A G 2: 58,047,812 I263T probably damaging Het
F12 T A 13: 55,421,067 Q294L possibly damaging Het
Far2 A T 6: 148,157,391 I192F probably damaging Het
Fshb T A 2: 107,058,873 I29F probably damaging Het
Gcgr T A 11: 120,536,985 Y251N probably benign Het
Gpr158 A G 2: 21,827,079 I997V possibly damaging Het
Gprc5d A G 6: 135,116,615 V98A probably damaging Het
H2-T23 T C 17: 36,031,688 E186G probably damaging Het
Khdrbs3 C T 15: 69,024,836 T115I probably benign Het
Kifap3 C T 1: 163,862,028 T527M probably damaging Het
Mfsd2a C T 4: 122,948,539 A512T probably benign Het
Mmp9 A G 2: 164,949,315 D135G probably benign Het
Mylk T C 16: 34,963,646 V1394A probably benign Het
Nek9 A C 12: 85,311,336 probably null Het
Olfr1008 T C 2: 85,690,058 S210P probably damaging Het
Olfr638 T C 7: 104,003,659 I128T probably damaging Het
P2rx2 T A 5: 110,342,410 probably benign Het
P4htm A G 9: 108,579,778 L410P probably damaging Het
Pik3c2a A T 7: 116,364,513 W921R probably benign Het
Pnisr T C 4: 21,862,175 F288L probably benign Het
Ppp4r3a C T 12: 101,058,323 probably null Het
Prss34 T C 17: 25,299,277 S144P probably damaging Het
Qrsl1 T C 10: 43,882,114 T328A probably benign Het
Rab33b A T 3: 51,484,524 T65S probably damaging Het
Rdh8 A G 9: 20,825,341 S235G possibly damaging Het
Rrp12 T C 19: 41,896,061 K6R probably benign Het
Sec24a T C 11: 51,696,733 D1025G probably benign Het
Sgo2a T G 1: 58,016,350 N564K probably damaging Het
Slc43a3 A T 2: 84,944,268 M130L probably benign Het
Soat1 T C 1: 156,446,575 I89V probably benign Het
St3gal5 A G 6: 72,149,173 D307G probably null Het
Stxbp3-ps C T 19: 9,557,829 noncoding transcript Het
Tacr2 A G 10: 62,261,690 probably benign Het
Tg C T 15: 66,734,586 T193I probably benign Het
Tnik A G 3: 28,542,030 T191A probably damaging Het
Trim27 T C 13: 21,190,086 probably benign Het
Usp14 A G 18: 10,001,769 probably null Het
Usp47 T C 7: 112,093,063 S911P possibly damaging Het
Vmn1r73 T A 7: 11,756,647 S131T possibly damaging Het
Vmn2r80 T C 10: 79,194,311 I657T probably damaging Het
Zfp935 A T 13: 62,454,887 C166* probably null Het
Other mutations in Usf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02990:Usf2 APN 7 30955307 missense probably benign
R0332:Usf2 UTSW 7 30955179 missense possibly damaging 0.95
R0513:Usf2 UTSW 7 30954736 unclassified probably benign
R1827:Usf2 UTSW 7 30955340 missense probably damaging 0.96
R1946:Usf2 UTSW 7 30956238 missense probably null
R2190:Usf2 UTSW 7 30955181 missense probably damaging 1.00
R3783:Usf2 UTSW 7 30955831 missense probably benign
R4744:Usf2 UTSW 7 30954772 missense probably damaging 1.00
R6372:Usf2 UTSW 7 30955313 nonsense probably null
Posted On2015-04-16