Incidental Mutation 'IGL02641:Ufc1'
ID301718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ufc1
Ensembl Gene ENSMUSG00000062963
Gene Nameubiquitin-fold modifier conjugating enzyme 1
SynonymsESTM29, 1110021H02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.744) question?
Stock #IGL02641
Quality Score
Status
Chromosome1
Chromosomal Location171288563-171295024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 171290191 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000137977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000144576] [ENSMUST00000149187]
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 benign
Transcript: ENSMUST00000080001
AA Change: D50G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: D50G

DomainStartEndE-ValueType
Pfam:UFC1 4 164 1.3e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111302
AA Change: D50G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: D50G

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 noncoding transcript
Transcript: ENSMUST00000127101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138974
Predicted Effect probably damaging
Transcript: ENSMUST00000144576
AA Change: D50G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
AA Change: D50G

DomainStartEndE-ValueType
Pfam:UFC1 4 91 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147176
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 noncoding transcript
Transcript: ENSMUST00000152621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153164
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
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A T 4: 124,610,717 M14K unknown Het
Arhgap24 T C 5: 102,892,520 V441A probably damaging Het
Cdv3 G T 9: 103,364,024 Q115K probably damaging Het
Clstn1 G T 4: 149,629,511 G207C probably null Het
Col28a1 A T 6: 8,014,794 Y870* probably null Het
Creb3 A C 4: 43,563,311 H136P probably benign Het
Dcaf17 G A 2: 71,082,031 C320Y probably damaging Het
Fbl T C 7: 28,175,046 S66P probably damaging Het
Fgfrl1 C A 5: 108,705,865 S279R probably damaging Het
Gdpgp1 C T 7: 80,239,048 R276* probably null Het
Hcfc2 A G 10: 82,702,549 Y140C probably damaging Het
Ighg3 A G 12: 113,360,198 I190T unknown Het
Itgav T C 2: 83,768,345 probably benign Het
Lce1c C A 3: 92,680,538 probably benign Het
Ldoc1 G A X: 61,709,813 C35Y probably damaging Het
Lrp10 T A 14: 54,468,611 C419* probably null Het
Micall2 T C 5: 139,719,339 D80G probably damaging Het
Olfr1444 T A 19: 12,862,202 C142* probably null Het
Pde3b C T 7: 114,530,817 T869I probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pkhd1 G A 1: 20,558,752 T657I possibly damaging Het
Pnisr A G 4: 21,860,908 N197S probably benign Het
Rpl21-ps4 G A 14: 11,227,661 noncoding transcript Het
Rtn4rl1 A C 11: 75,265,824 T361P probably damaging Het
Spaca9 C A 2: 28,695,951 E34* probably null Het
Trip10 T A 17: 57,262,411 D478E probably benign Het
Tsc22d2 A G 3: 58,416,155 D156G probably damaging Het
Vmn1r202 T G 13: 22,502,104 I48L probably benign Het
Vmn2r111 A T 17: 22,573,224 V17E possibly damaging Het
Vps13a T A 19: 16,698,821 M1263L probably benign Het
Other mutations in Ufc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0452:Ufc1 UTSW 1 171289954 unclassified probably benign
R1226:Ufc1 UTSW 1 171289237 missense probably benign
R2314:Ufc1 UTSW 1 171289248 missense probably damaging 1.00
R3821:Ufc1 UTSW 1 171289599 unclassified probably benign
R4642:Ufc1 UTSW 1 171289894 missense probably benign 0.27
R4855:Ufc1 UTSW 1 171294802 utr 5 prime probably benign
R5390:Ufc1 UTSW 1 171290173 missense probably damaging 1.00
R6382:Ufc1 UTSW 1 171294675 missense probably damaging 1.00
R6419:Ufc1 UTSW 1 171288956 missense probably damaging 1.00
R7905:Ufc1 UTSW 1 171289935 missense probably damaging 0.99
R8794:Ufc1 UTSW 1 171289522 missense probably damaging 0.98
Posted On2015-04-16