Incidental Mutation 'IGL02641:Ufc1'
ID |
301718 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ufc1
|
Ensembl Gene |
ENSMUSG00000062963 |
Gene Name |
ubiquitin-fold modifier conjugating enzyme 1 |
Synonyms |
ESTM29, 1110021H02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.811)
|
Stock # |
IGL02641
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171116137-171122575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 171117764 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9CR09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065941
|
SMART Domains |
Protein: ENSMUSP00000064002 Gene: ENSMUSG00000053483
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:UFC1
|
6 |
160 |
1.3e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111305
|
SMART Domains |
Protein: ENSMUSP00000106936 Gene: ENSMUSG00000053483
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Domain | Start | End | E-Value | Type |
Pfam:UFC1
|
4 |
91 |
2e-45 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149187
|
SMART Domains |
Protein: ENSMUSP00000120161 Gene: ENSMUSG00000053483
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
T |
4: 124,504,510 (GRCm39) |
M14K |
unknown |
Het |
Arhgap24 |
T |
C |
5: 103,040,386 (GRCm39) |
V441A |
probably damaging |
Het |
Cdv3 |
G |
T |
9: 103,241,223 (GRCm39) |
Q115K |
probably damaging |
Het |
Clstn1 |
G |
T |
4: 149,713,968 (GRCm39) |
G207C |
probably null |
Het |
Col28a1 |
A |
T |
6: 8,014,794 (GRCm39) |
Y870* |
probably null |
Het |
Creb3 |
A |
C |
4: 43,563,311 (GRCm39) |
H136P |
probably benign |
Het |
Dcaf17 |
G |
A |
2: 70,912,375 (GRCm39) |
C320Y |
probably damaging |
Het |
Fbl |
T |
C |
7: 27,874,471 (GRCm39) |
S66P |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,731 (GRCm39) |
S279R |
probably damaging |
Het |
Gdpgp1 |
C |
T |
7: 79,888,796 (GRCm39) |
R276* |
probably null |
Het |
Hcfc2 |
A |
G |
10: 82,538,383 (GRCm39) |
Y140C |
probably damaging |
Het |
Ighg3 |
A |
G |
12: 113,323,818 (GRCm39) |
I190T |
unknown |
Het |
Itgav |
T |
C |
2: 83,598,689 (GRCm39) |
|
probably benign |
Het |
Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
Ldoc1 |
G |
A |
X: 60,753,419 (GRCm39) |
C35Y |
probably damaging |
Het |
Lrp10 |
T |
A |
14: 54,706,068 (GRCm39) |
C419* |
probably null |
Het |
Micall2 |
T |
C |
5: 139,705,094 (GRCm39) |
D80G |
probably damaging |
Het |
Or5b21 |
T |
A |
19: 12,839,566 (GRCm39) |
C142* |
probably null |
Het |
Pde3b |
C |
T |
7: 114,130,052 (GRCm39) |
T869I |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
G |
A |
1: 20,628,976 (GRCm39) |
T657I |
possibly damaging |
Het |
Pnisr |
A |
G |
4: 21,860,908 (GRCm39) |
N197S |
probably benign |
Het |
Rpl21-ps4 |
G |
A |
14: 11,227,661 (GRCm38) |
|
noncoding transcript |
Het |
Rtn4rl1 |
A |
C |
11: 75,156,650 (GRCm39) |
T361P |
probably damaging |
Het |
Spaca9 |
C |
A |
2: 28,585,963 (GRCm39) |
E34* |
probably null |
Het |
Trip10 |
T |
A |
17: 57,569,411 (GRCm39) |
D478E |
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,323,576 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn1r202 |
T |
G |
13: 22,686,274 (GRCm39) |
I48L |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,792,205 (GRCm39) |
V17E |
possibly damaging |
Het |
Vps13a |
T |
A |
19: 16,676,185 (GRCm39) |
M1263L |
probably benign |
Het |
|
Other mutations in Ufc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8794:Ufc1
|
UTSW |
1 |
171,117,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |