Incidental Mutation 'R2176:Utf1'
ID 236881
Institutional Source Beutler Lab
Gene Symbol Utf1
Ensembl Gene ENSMUSG00000047751
Gene Name undifferentiated embryonic cell transcription factor 1
Synonyms
MMRRC Submission 040178-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # R2176 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139523769-139525025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139523920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
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 possibly damaging
Transcript: ENSMUST00000168457
AA Change: E45G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128848
Gene: ENSMUSG00000047751
AA Change: E45G

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
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T A 5: 121,657,649 (GRCm39) Y548F probably benign Het
Armc9 T C 1: 86,127,614 (GRCm39) L83P probably damaging Het
BC051665 A T 13: 60,932,344 (GRCm39) probably benign Het
Casp3 A G 8: 47,082,791 (GRCm39) N3S probably damaging Het
Ccdc174 G A 6: 91,865,070 (GRCm39) M109I probably benign Het
Ccr6 T A 17: 8,475,073 (GRCm39) F93I probably damaging Het
Clvs2 T C 10: 33,471,811 (GRCm39) S165G probably damaging Het
Cntnap5c T C 17: 58,320,941 (GRCm39) V171A probably benign Het
Dennd5a C A 7: 109,504,327 (GRCm39) probably null Het
Dock2 T A 11: 34,586,044 (GRCm39) Y546F probably benign Het
Fat2 A G 11: 55,158,401 (GRCm39) probably null Het
Focad T A 4: 88,197,481 (GRCm39) Y625N unknown Het
Fyb1 A G 15: 6,609,435 (GRCm39) K3E probably damaging Het
Gm14496 G A 2: 181,633,130 (GRCm39) D38N probably benign Het
Gm20403 T C 12: 55,033,155 (GRCm39) T54A probably benign Het
Gm9830 A G 9: 44,375,556 (GRCm39) noncoding transcript Het
Hectd1 A T 12: 51,792,277 (GRCm39) S2487R probably damaging Het
Il5ra A G 6: 106,715,233 (GRCm39) L175S probably benign Het
Inhca A G 9: 103,136,566 (GRCm39) probably benign Het
Itgav C T 2: 83,633,599 (GRCm39) R983C probably damaging Het
Kcna10 T C 3: 107,102,032 (GRCm39) V221A probably damaging Het
Kif13b G A 14: 64,907,120 (GRCm39) V35I probably benign Het
Kif6 G A 17: 50,062,258 (GRCm39) E473K probably damaging Het
Mfsd14a T C 3: 116,426,042 (GRCm39) T452A probably benign Het
Mllt1 A G 17: 57,204,398 (GRCm39) S382P probably benign Het
Myo15b T C 11: 115,757,398 (GRCm39) W1083R probably damaging Het
Nell2 T C 15: 95,333,038 (GRCm39) I174V probably damaging Het
Noct G A 3: 51,157,117 (GRCm39) probably null Het
Nvl A T 1: 180,962,639 (GRCm39) probably benign Het
Ofcc1 T C 13: 40,250,595 (GRCm39) S574G probably benign Het
Or10a3m G A 7: 108,313,339 (GRCm39) V248I probably damaging Het
Or11h4 T C 14: 50,973,681 (GRCm39) M313V probably benign Het
Or4a75 A T 2: 89,447,924 (GRCm39) M204K possibly damaging Het
Pip5k1a A T 3: 94,972,807 (GRCm39) S415T probably damaging Het
Pkhd1 G A 1: 20,623,741 (GRCm39) P785S probably damaging Het
Plcg2 A G 8: 118,339,733 (GRCm39) Y1048C probably damaging Het
Ppp3cb A T 14: 20,570,720 (GRCm39) V337E probably benign Het
Prkg2 T C 5: 99,114,368 (GRCm39) probably benign Het
Prl7a2 T G 13: 27,843,089 (GRCm39) Y238S probably benign Het
Psg28 T A 7: 18,161,804 (GRCm39) D233V probably damaging Het
Rad50 A G 11: 53,589,036 (GRCm39) C221R probably benign Het
Rgl3 A G 9: 21,887,254 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,014 (GRCm39) probably benign Het
Ror1 C A 4: 100,299,071 (GRCm39) R815S probably damaging Het
Rrp1b C A 17: 32,275,534 (GRCm39) D360E probably benign Het
Ryr3 T C 2: 112,496,680 (GRCm39) Q3682R possibly damaging Het
Sdr42e1 A T 8: 118,389,616 (GRCm39) F342I possibly damaging Het
Setd5 A G 6: 113,128,114 (GRCm39) R1337G probably benign Het
Siglecf T C 7: 43,001,140 (GRCm39) V36A probably damaging Het
Slc4a5 G A 6: 83,239,542 (GRCm39) G152D probably damaging Het
Sptbn4 T G 7: 27,063,587 (GRCm39) M2280L probably benign Het
Syngr2 T C 11: 117,703,406 (GRCm39) I74T probably damaging Het
Tm9sf1 T C 14: 55,878,866 (GRCm39) I175M possibly damaging Het
Tmc3 A G 7: 83,258,516 (GRCm39) E502G probably damaging Het
Tph1 T A 7: 46,311,463 (GRCm39) D88V possibly damaging Het
Tpr A G 1: 150,295,691 (GRCm39) K979E possibly damaging Het
Usp47 A G 7: 111,691,934 (GRCm39) T799A probably benign Het
Vmn1r208 A T 13: 22,956,772 (GRCm39) C242S probably damaging Het
Wrnip1 T C 13: 33,004,223 (GRCm39) I498T probably damaging Het
Ypel2 T A 11: 86,862,699 (GRCm39) H18L probably benign Het
Zan T G 5: 137,420,110 (GRCm39) D2849A unknown Het
Zfp647 A T 15: 76,795,860 (GRCm39) F267I probably damaging Het
Zfp786 G T 6: 47,797,905 (GRCm39) H344Q possibly damaging Het
Zswim3 G T 2: 164,662,614 (GRCm39) A365S probably benign Het
Zswim5 T C 4: 116,830,238 (GRCm39) W538R probably damaging Het
Other mutations in Utf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02510:Utf1 APN 7 139,523,929 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGGGTCCCTAAGGAAAGGAC -3'
(R):5'- TTGAGGAACTTGTAGCGACGG -3'

Sequencing Primer
(F):5'- TCGCAACGACCAGGTTCAG -3'
(R):5'- AACTTGCTGACGGGCCAG -3'
Posted On 2014-10-02