Incidental Mutation 'R5164:Ufm1'
ID 395582
Institutional Source Beutler Lab
Gene Symbol Ufm1
Ensembl Gene ENSMUSG00000027746
Gene Name ubiquitin-fold modifier 1
Synonyms 1810045K17Rik
MMRRC Submission 042745-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5164 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 53760797-53771228 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to C at 53765348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029309] [ENSMUST00000122330] [ENSMUST00000146598]
AlphaFold P61961
PDB Structure Solution Structure of Mouse Hypothetical 9.1 kDa Protein, A Ubiquitin-like Fold [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000029309
SMART Domains Protein: ENSMUSP00000029309
Gene: ENSMUSG00000027746

DomainStartEndE-ValueType
Pfam:Ufm1 2 55 5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122330
SMART Domains Protein: ENSMUSP00000112586
Gene: ENSMUSG00000027746

DomainStartEndE-ValueType
Pfam:Ufm1 2 77 8.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146598
SMART Domains Protein: ENSMUSP00000118478
Gene: ENSMUSG00000027746

DomainStartEndE-ValueType
Pfam:Ufm1 3 77 1.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152414
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,583,793 (GRCm39) H4637Q probably benign Het
Akap6 A G 12: 53,189,249 (GRCm39) H2221R probably benign Het
Arsj A T 3: 126,231,808 (GRCm39) M185L probably benign Het
Ccdc177 T C 12: 80,805,336 (GRCm39) T313A unknown Het
Cdkal1 A T 13: 29,809,702 (GRCm39) L214H probably damaging Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Cfap65 T C 1: 74,965,675 (GRCm39) K445R probably damaging Het
Chrnb3 T A 8: 27,884,160 (GRCm39) I299N probably damaging Het
Cse1l C A 2: 166,786,348 (GRCm39) D826E probably benign Het
Cwf19l2 T C 9: 3,475,511 (GRCm39) V816A probably damaging Het
Dnah5 A T 15: 28,408,438 (GRCm39) E3474D probably benign Het
Dock5 A T 14: 68,055,110 (GRCm39) Y585* probably null Het
Ebf2 T C 14: 67,627,970 (GRCm39) S322P possibly damaging Het
Epha8 T C 4: 136,672,983 (GRCm39) E267G possibly damaging Het
Fkbp5 A G 17: 28,656,964 (GRCm39) probably null Het
Gbp4 T A 5: 105,284,743 (GRCm39) K49* probably null Het
Gramd4 A T 15: 85,985,032 (GRCm39) T98S probably benign Het
Hectd1 C A 12: 51,874,272 (GRCm39) M1I probably null Het
Hsd17b8 A G 17: 34,245,952 (GRCm39) probably benign Het
Hycc2 T C 1: 58,574,597 (GRCm39) T315A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Keg1 A G 19: 12,692,044 (GRCm39) probably benign Het
Lilra6 A T 7: 3,917,880 (GRCm39) V88E probably damaging Het
Mast1 A G 8: 85,640,147 (GRCm39) probably benign Het
Mdn1 A G 4: 32,759,011 (GRCm39) probably null Het
Nrdc C T 4: 108,896,914 (GRCm39) T511I probably damaging Het
Odad4 G A 11: 100,462,346 (GRCm39) W506* probably null Het
Or4c106 T A 2: 88,682,914 (GRCm39) L207I probably benign Het
Or5p6 G A 7: 107,631,487 (GRCm39) T21I possibly damaging Het
Or8k24 T C 2: 86,215,815 (GRCm39) T316A probably benign Het
Pms1 A G 1: 53,246,799 (GRCm39) V301A probably damaging Het
Pnisr A T 4: 21,859,237 (GRCm39) Q144L possibly damaging Het
Pp2d1 G T 17: 53,815,098 (GRCm39) T542K probably benign Het
Ppargc1b A T 18: 61,435,715 (GRCm39) C922S probably damaging Het
Ptprd T C 4: 76,018,995 (GRCm39) probably null Het
Runx3 T C 4: 134,848,441 (GRCm39) S9P possibly damaging Het
Serpina1b A G 12: 103,698,346 (GRCm39) S168P probably benign Het
Slc14a2 G A 18: 78,200,487 (GRCm39) A722V probably damaging Het
Slc23a2 T A 2: 131,917,370 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,243,886 (GRCm39) probably null Het
Tcf20 A G 15: 82,740,804 (GRCm39) S216P probably damaging Het
Tpst1 T A 5: 130,130,842 (GRCm39) I104N probably damaging Het
Unkl A G 17: 25,432,083 (GRCm39) probably null Het
Usf3 T C 16: 44,038,543 (GRCm39) S1008P probably damaging Het
Ythdf3 T C 3: 16,237,677 (GRCm39) V6A possibly damaging Het
Zc3h3 A T 15: 75,648,875 (GRCm39) S752R probably benign Het
Zfp268 T C 4: 145,348,775 (GRCm39) Y71H probably damaging Het
Other mutations in Ufm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:Ufm1 UTSW 3 53,766,617 (GRCm39) missense probably benign 0.34
R0458:Ufm1 UTSW 3 53,768,655 (GRCm39) missense probably damaging 1.00
R2042:Ufm1 UTSW 3 53,766,702 (GRCm39) splice site probably benign
R5809:Ufm1 UTSW 3 53,765,303 (GRCm39) utr 3 prime probably benign
R6989:Ufm1 UTSW 3 53,765,402 (GRCm39) missense probably damaging 0.96
R8825:Ufm1 UTSW 3 53,771,093 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGTCACCACAGTGTGACCTG -3'
(R):5'- GGCCACCATCCGAGATGAAATC -3'

Sequencing Primer
(F):5'- GTGTCGTACCCTCCACTCAAAGG -3'
(R):5'- GAGATGAAATCGGGACATCCTCC -3'
Posted On 2016-06-21