Incidental Mutation 'R8794:Ufc1'
ID 671076
Institutional Source Beutler Lab
Gene Symbol Ufc1
Ensembl Gene ENSMUSG00000062963
Gene Name ubiquitin-fold modifier conjugating enzyme 1
Synonyms ESTM29, 1110021H02Rik
MMRRC Submission 068723-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R8794 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171116137-171122575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171117095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 110 (Y110H)
Ref Sequence ENSEMBL: ENSMUSP00000078914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000144576] [ENSMUST00000149187]
AlphaFold Q9CR09
Predicted Effect probably benign
Transcript: ENSMUST00000065941
SMART Domains Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 150 160 N/A INTRINSIC
Pfam:UCH 211 556 9.4e-66 PFAM
Pfam:UCH_1 212 538 9.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080001
AA Change: Y110H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: Y110H

DomainStartEndE-ValueType
Pfam:UFC1 4 164 1.3e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111302
AA Change: Y110H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: Y110H

DomainStartEndE-ValueType
Pfam:UFC1 6 160 1.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111305
SMART Domains Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 150 160 N/A INTRINSIC
Pfam:UCH 211 556 9.4e-66 PFAM
Pfam:UCH_1 212 538 9.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111306
SMART Domains Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 150 160 N/A INTRINSIC
Pfam:UCH 211 559 4.1e-60 PFAM
Pfam:UCH_1 215 541 3.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144576
SMART Domains Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963

DomainStartEndE-ValueType
Pfam:UFC1 4 91 2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149187
SMART Domains Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 150 160 N/A INTRINSIC
Pfam:UCH 211 438 1e-36 PFAM
Pfam:UCH_1 212 436 2.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174720
SMART Domains Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 21 36 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
Pfam:UCH 77 162 4.6e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (86/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,939 (GRCm39) V498D unknown Het
Actn1 C T 12: 80,245,754 (GRCm39) probably benign Het
Actrt2 T C 4: 154,751,176 (GRCm39) E320G probably damaging Het
Adamts7 C T 9: 90,076,239 (GRCm39) Q1265* probably null Het
Adra1a A G 14: 66,875,064 (GRCm39) N13S probably benign Het
Alpk3 G T 7: 80,707,403 (GRCm39) R9L unknown Het
Ankrd42 A G 7: 92,263,674 (GRCm39) F225L probably benign Het
C3 T C 17: 57,528,011 (GRCm39) E736G probably benign Het
Ccng1 A G 11: 40,644,826 (GRCm39) S24P probably benign Het
Cdc42bpa A T 1: 179,894,816 (GRCm39) N332I probably damaging Het
Cep131 G A 11: 119,972,074 (GRCm39) P90S probably benign Het
Chd8 A G 14: 52,441,904 (GRCm39) S2154P probably damaging Het
Cilp A G 9: 65,186,535 (GRCm39) S877G probably benign Het
Clic6 T A 16: 92,324,987 (GRCm39) S382T possibly damaging Het
Coq8a G T 1: 180,006,773 (GRCm39) P85Q probably benign Het
Creb3l4 A G 3: 90,145,225 (GRCm39) I309T probably benign Het
Cux2 T C 5: 122,007,306 (GRCm39) E785G probably benign Het
Cyfip2 A G 11: 46,144,800 (GRCm39) F685L possibly damaging Het
Epha6 T C 16: 60,026,035 (GRCm39) D469G probably benign Het
Erc1 A T 6: 119,607,616 (GRCm39) V962E probably damaging Het
Esrrb A T 12: 86,517,038 (GRCm39) S57C probably damaging Het
Fam169a A G 13: 97,250,628 (GRCm39) T320A possibly damaging Het
Farsb C T 1: 78,401,678 (GRCm39) probably benign Het
Frem3 T C 8: 81,338,907 (GRCm39) V400A probably damaging Het
Frem3 A T 8: 81,342,851 (GRCm39) M1715L probably benign Het
Frmpd1 A G 4: 45,279,632 (GRCm39) T786A probably benign Het
Gapvd1 A T 2: 34,594,330 (GRCm39) S886T possibly damaging Het
Gba2 A G 4: 43,568,077 (GRCm39) S737P probably damaging Het
Gm525 A G 11: 88,979,479 (GRCm39) N85S probably damaging Het
Gnpda1 T A 18: 38,465,091 (GRCm39) D175V probably benign Het
Heatr5b T C 17: 79,123,015 (GRCm39) I655V probably benign Het
Hmcn1 G A 1: 150,591,469 (GRCm39) T1910I probably benign Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ier2 A T 8: 85,389,096 (GRCm39) D95E probably damaging Het
Ifi208 A G 1: 173,523,370 (GRCm39) R547G possibly damaging Het
Itih3 T A 14: 30,634,854 (GRCm39) S639C possibly damaging Het
Kif19b A G 5: 140,461,785 (GRCm39) E529G probably damaging Het
Marchf7 G A 2: 60,074,015 (GRCm39) probably null Het
Mep1b A C 18: 21,224,325 (GRCm39) T373P probably damaging Het
Mlh3 G A 12: 85,282,497 (GRCm39) P1379S probably damaging Het
Nav3 T A 10: 109,605,032 (GRCm39) K1014* probably null Het
Nme1 A T 11: 93,851,658 (GRCm39) F78I probably benign Het
Nos3 T A 5: 24,576,745 (GRCm39) V458D probably damaging Het
Noxa1 A G 2: 24,984,852 (GRCm39) F29L probably benign Het
Nrcam G A 12: 44,624,958 (GRCm39) G1055D probably benign Het
Nutf2 A T 8: 106,602,171 (GRCm39) probably benign Het
Oog3 A G 4: 143,884,556 (GRCm39) I460T probably benign Het
Or4b1b A T 2: 90,112,150 (GRCm39) Y256* probably null Het
Or4c113 T C 2: 88,885,477 (GRCm39) M98V probably benign Het
Or5p78 A T 7: 108,211,580 (GRCm39) D22V probably benign Het
Or7e175 A T 9: 20,048,630 (GRCm39) M73L possibly damaging Het
Pde2a A T 7: 101,155,136 (GRCm39) Y559F possibly damaging Het
Pde6d G A 1: 86,475,209 (GRCm39) Q61* probably null Het
Pdpr A G 8: 111,852,240 (GRCm39) T536A possibly damaging Het
Pias4 T A 10: 80,999,846 (GRCm39) K69M probably damaging Het
Pigo A T 4: 43,023,787 (GRCm39) D188E possibly damaging Het
Pik3r2 A G 8: 71,224,007 (GRCm39) V270A probably benign Het
Plod2 T A 9: 92,482,801 (GRCm39) W456R probably damaging Het
Pmpcb T C 5: 21,961,832 (GRCm39) V450A probably benign Het
Poln G A 5: 34,286,871 (GRCm39) T99I possibly damaging Het
Prg2 A G 2: 84,812,404 (GRCm39) D38G possibly damaging Het
Psmd7 A C 8: 108,310,831 (GRCm39) Y138D probably damaging Het
Ptprk T A 10: 28,139,504 (GRCm39) Y76* probably null Het
Ranbp2 T A 10: 58,328,414 (GRCm39) V2810E probably damaging Het
Rgma A T 7: 73,067,648 (GRCm39) H411L probably damaging Het
Sapcd1 T C 17: 35,246,814 (GRCm39) T25A probably damaging Het
Serpinb6e T C 13: 34,024,977 (GRCm39) I105V possibly damaging Het
Serpinb9f A T 13: 33,513,396 (GRCm39) T158S probably benign Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Skint6 A T 4: 113,049,869 (GRCm39) S265R possibly damaging Het
Slc23a2 A T 2: 131,902,629 (GRCm39) F524L probably benign Het
Slc2a13 C A 15: 91,234,302 (GRCm39) G345C probably damaging Het
Sp110 A G 1: 85,511,231 (GRCm39) probably null Het
Srcin1 A G 11: 97,439,803 (GRCm39) V109A probably benign Het
Tfcp2l1 A G 1: 118,560,118 (GRCm39) N70S probably damaging Het
Tmem30c T A 16: 57,090,553 (GRCm39) H218L probably benign Het
Tmprss11d G A 5: 86,486,680 (GRCm39) T70I probably damaging Het
Tnpo2 A T 8: 85,765,114 (GRCm39) Q32L probably benign Het
Trav16n A C 14: 53,588,867 (GRCm39) T48P probably damaging Het
Wars2 A G 3: 99,123,888 (GRCm39) K250E probably damaging Het
Wdfy4 G T 14: 32,869,049 (GRCm39) N326K probably benign Het
Xirp2 A T 2: 67,341,557 (GRCm39) E1266V probably damaging Het
Zfp423 A C 8: 88,507,857 (GRCm39) L829R probably damaging Het
Zfp735 A G 11: 73,603,029 (GRCm39) K658E possibly damaging Het
Zscan12 T A 13: 21,547,847 (GRCm39) C10S possibly damaging Het
Zswim3 T A 2: 164,662,687 (GRCm39) M389K probably damaging Het
Other mutations in Ufc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02641:Ufc1 APN 1 171,117,764 (GRCm39) missense probably damaging 1.00
R0452:Ufc1 UTSW 1 171,117,527 (GRCm39) unclassified probably benign
R1226:Ufc1 UTSW 1 171,116,810 (GRCm39) missense probably benign
R2314:Ufc1 UTSW 1 171,116,821 (GRCm39) missense probably damaging 1.00
R3821:Ufc1 UTSW 1 171,117,172 (GRCm39) unclassified probably benign
R4642:Ufc1 UTSW 1 171,117,467 (GRCm39) missense probably benign 0.27
R4855:Ufc1 UTSW 1 171,122,375 (GRCm39) utr 5 prime probably benign
R5390:Ufc1 UTSW 1 171,117,746 (GRCm39) missense probably damaging 1.00
R6382:Ufc1 UTSW 1 171,122,248 (GRCm39) missense probably damaging 1.00
R6419:Ufc1 UTSW 1 171,116,529 (GRCm39) missense probably damaging 1.00
R7905:Ufc1 UTSW 1 171,117,508 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACGTAGAGCAGCCTCTTGG -3'
(R):5'- TACATGCTGCCTGTGGAATC -3'

Sequencing Primer
(F):5'- TAGAGCAGCCTCTTGGGAACAC -3'
(R):5'- CCTGTGGAATCTGCGGAAC -3'
Posted On 2021-04-30