Incidental Mutation 'IGL02510:Utf1'
ID 296507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utf1
Ensembl Gene ENSMUSG00000047751
Gene Name undifferentiated embryonic cell transcription factor 1
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # IGL02510
Quality Score
Status
Chromosome 7
Chromosomal Location 139523769-139525025 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 139523929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 48 (S48*)
Ref Sequence ENSEMBL: ENSMUSP00000128848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000168457]
AlphaFold Q6J1H4
Predicted Effect probably benign
Transcript: ENSMUST00000053445
SMART Domains Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129

DomainStartEndE-ValueType
KIND 37 217 4.66e-65 SMART
Blast:KIND 381 454 2e-10 BLAST
KIND 456 620 1.22e-50 SMART
low complexity region 658 670 N/A INTRINSIC
low complexity region 755 771 N/A INTRINSIC
low complexity region 792 801 N/A INTRINSIC
low complexity region 949 965 N/A INTRINSIC
coiled coil region 1121 1151 N/A INTRINSIC
Pfam:RasGEF_N 1242 1341 2.2e-17 PFAM
Pfam:RasGEF 1464 1672 3.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156941
Predicted Effect probably null
Transcript: ENSMUST00000168457
AA Change: S48*
SMART Domains Protein: ENSMUSP00000128848
Gene: ENSMUSG00000047751
AA Change: S48*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Myb_DNA-bind_4 60 139 1e-9 PFAM
low complexity region 156 194 N/A INTRINSIC
low complexity region 218 231 N/A INTRINSIC
SCOP:d1e7la2 246 314 1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210154
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation and background sensitive neo- and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,078,959 (GRCm39) S193N probably benign Het
Arrdc1 C A 2: 24,825,112 (GRCm39) V16F probably damaging Het
Bhmt1b A G 18: 87,775,653 (GRCm39) Q392R probably benign Het
Bsx A T 9: 40,785,517 (GRCm39) Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 (GRCm39) T253A probably benign Het
Cdkl3 T C 11: 51,902,097 (GRCm39) L102P probably damaging Het
Cgnl1 G T 9: 71,632,639 (GRCm39) N237K probably benign Het
Cldn14 T A 16: 93,716,844 (GRCm39) M1L probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Col7a1 C A 9: 108,802,299 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhrs2 G A 14: 55,473,532 (GRCm39) V64M probably damaging Het
Disp3 G A 4: 148,337,158 (GRCm39) H886Y probably benign Het
Dst G A 1: 34,268,332 (GRCm39) probably null Het
Fnbp4 T C 2: 90,581,819 (GRCm39) V215A probably benign Het
Fzd9 A G 5: 135,278,469 (GRCm39) L472P probably damaging Het
Hpd C T 5: 123,319,973 (GRCm39) R15Q possibly damaging Het
Htra2 A G 6: 83,028,592 (GRCm39) V412A probably damaging Het
Ift80 A G 3: 68,805,876 (GRCm39) F722S probably benign Het
Kcnq2 T C 2: 180,723,154 (GRCm39) T741A probably benign Het
Kl A C 5: 150,912,466 (GRCm39) E738D probably damaging Het
Klra4 T A 6: 130,036,506 (GRCm39) I178L probably damaging Het
Klra9 T C 6: 130,168,185 (GRCm39) E27G probably benign Het
Kntc1 T C 5: 123,957,125 (GRCm39) Y2145H probably benign Het
Mbd5 T A 2: 49,147,041 (GRCm39) M417K probably benign Het
Med31 C T 11: 72,102,882 (GRCm39) M75I probably benign Het
Mpeg1 A T 19: 12,438,788 (GRCm39) D82V probably damaging Het
Msto1 A G 3: 88,817,652 (GRCm39) Y439H probably damaging Het
Or1e17 G A 11: 73,831,831 (GRCm39) G253E probably damaging Het
Or1j15 T C 2: 36,458,693 (GRCm39) S28P possibly damaging Het
Or2av9 T C 11: 58,381,365 (GRCm39) Y72C probably damaging Het
Or5p64 T A 7: 107,855,348 (GRCm39) probably benign Het
Prtg G A 9: 72,798,151 (GRCm39) V706M probably damaging Het
Sfxn2 G T 19: 46,576,711 (GRCm39) A186S probably benign Het
Slc12a5 A T 2: 164,824,728 (GRCm39) probably benign Het
Slc7a3 T C X: 100,126,439 (GRCm39) E222G probably benign Het
Stox1 A T 10: 62,499,826 (GRCm39) H911Q probably benign Het
Sult3a2 A T 10: 33,642,435 (GRCm39) N289K probably benign Het
Supt20 A G 3: 54,622,945 (GRCm39) probably benign Het
Tchh A G 3: 93,351,385 (GRCm39) E275G unknown Het
Tectb A T 19: 55,179,943 (GRCm39) N263I probably damaging Het
Tsga10 C T 1: 37,800,066 (GRCm39) R608Q possibly damaging Het
Ttyh3 A G 5: 140,615,219 (GRCm39) Y390H probably damaging Het
Zfp358 G A 8: 3,546,786 (GRCm39) G456D probably benign Het
Zup1 A G 10: 33,806,150 (GRCm39) probably null Het
Other mutations in Utf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02988:Utf1 UTSW 7 139,523,875 (GRCm39) missense possibly damaging 0.92
R1813:Utf1 UTSW 7 139,524,213 (GRCm39) missense probably damaging 0.96
R1896:Utf1 UTSW 7 139,524,213 (GRCm39) missense probably damaging 0.96
R2079:Utf1 UTSW 7 139,524,808 (GRCm39) nonsense probably null
R2176:Utf1 UTSW 7 139,523,920 (GRCm39) missense possibly damaging 0.92
R5052:Utf1 UTSW 7 139,524,814 (GRCm39) unclassified probably benign
R5554:Utf1 UTSW 7 139,523,859 (GRCm39) missense probably benign
R5754:Utf1 UTSW 7 139,524,704 (GRCm39) unclassified probably benign
R7503:Utf1 UTSW 7 139,524,046 (GRCm39) missense probably damaging 0.99
R7910:Utf1 UTSW 7 139,524,704 (GRCm39) unclassified probably benign
Posted On 2015-04-16