Incidental Mutation 'R1226:Ufc1'
ID |
152212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ufc1
|
Ensembl Gene |
ENSMUSG00000062963 |
Gene Name |
ubiquitin-fold modifier conjugating enzyme 1 |
Synonyms |
ESTM29, 1110021H02Rik |
MMRRC Submission |
039295-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.811)
|
Stock # |
R1226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
171116137-171122575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 171116810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 119
(D119E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106933
(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: D119E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078914 Gene: ENSMUSG00000062963 AA Change: D119E
Domain | Start | End | E-Value | Type |
Pfam:UFC1
|
4 |
164 |
1.3e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111302
AA Change: D119E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106933 Gene: ENSMUSG00000062963 AA Change: D119E
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: ENSMUST00000126729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144576
|
SMART Domains |
Protein: ENSMUSP00000137977 Gene: ENSMUSG00000062963
Domain | Start | End | E-Value | Type |
Pfam:UFC1
|
4 |
91 |
2e-45 |
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Abcd2 |
G |
T |
15: 91,075,246 (GRCm39) |
A189E |
probably benign |
Het |
Ahcy |
T |
C |
2: 154,906,817 (GRCm39) |
T159A |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,669,560 (GRCm39) |
V84A |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,832,748 (GRCm39) |
T1036M |
probably benign |
Het |
Ccdc187 |
G |
T |
2: 26,166,133 (GRCm39) |
S765R |
probably damaging |
Het |
Cfap210 |
A |
G |
2: 69,617,553 (GRCm39) |
M76T |
possibly damaging |
Het |
Chd1l |
G |
A |
3: 97,469,941 (GRCm39) |
R862* |
probably null |
Het |
Crmp1 |
A |
G |
5: 37,430,778 (GRCm39) |
D71G |
probably damaging |
Het |
Ctif |
CTGTGTCCGGTGT |
CTGT |
18: 75,654,650 (GRCm39) |
|
probably benign |
Het |
Ctsb |
A |
C |
14: 63,379,189 (GRCm39) |
Y267S |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,290,164 (GRCm39) |
I239N |
possibly damaging |
Het |
Dna2 |
T |
C |
10: 62,796,203 (GRCm39) |
V544A |
possibly damaging |
Het |
Dnhd1 |
T |
A |
7: 105,346,106 (GRCm39) |
F2364Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,811,355 (GRCm39) |
E2558V |
probably damaging |
Het |
Gm10061 |
A |
C |
16: 88,948,169 (GRCm39) |
Y48S |
unknown |
Het |
Herc1 |
T |
A |
9: 66,323,545 (GRCm39) |
M1353K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lin7a |
T |
C |
10: 107,107,780 (GRCm39) |
V20A |
probably benign |
Het |
Lsr |
T |
A |
7: 30,671,308 (GRCm39) |
I142F |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,964,285 (GRCm39) |
T275I |
possibly damaging |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Mrpl32 |
A |
G |
13: 14,786,096 (GRCm39) |
I74T |
probably benign |
Het |
Nek11 |
C |
T |
9: 105,270,091 (GRCm39) |
V44I |
probably damaging |
Het |
Noa1 |
A |
G |
5: 77,455,402 (GRCm39) |
V438A |
possibly damaging |
Het |
Or5an1c |
A |
C |
19: 12,218,950 (GRCm39) |
I25R |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,266 (GRCm39) |
C108Y |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,313 (GRCm39) |
L701P |
probably damaging |
Het |
Pde11a |
G |
A |
2: 75,988,698 (GRCm39) |
S481L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,606,091 (GRCm39) |
R3* |
probably null |
Het |
Reln |
A |
G |
5: 22,115,864 (GRCm39) |
L3048P |
probably damaging |
Het |
Slc6a11 |
T |
A |
6: 114,171,624 (GRCm39) |
I265N |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,248,656 (GRCm39) |
S636P |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,028,172 (GRCm39) |
I44V |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,937,523 (GRCm39) |
E1175V |
possibly damaging |
Het |
Tnxb |
A |
C |
17: 34,907,903 (GRCm39) |
T1316P |
probably damaging |
Het |
Vmn1r220 |
A |
G |
13: 23,368,294 (GRCm39) |
F134S |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,354,560 (GRCm39) |
S1404P |
probably damaging |
Het |
Zfp866 |
A |
G |
8: 70,218,940 (GRCm39) |
F227L |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,374,408 (GRCm39) |
H535Q |
probably benign |
Het |
|
Other mutations in Ufc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGTTACTGTCACAGTCCATGCC -3'
(R):5'- CTCCTCTGTCAAGCCTGAGCAAAG -3'
Sequencing Primer
(F):5'- GTCACAGTCCATGCCTCTTG -3'
(R):5'- AGGCTGCTCTACGTTAAGACTG -3'
|
Posted On |
2014-01-29 |