Incidental Mutation 'R5390:Ufc1'
| ID |
425501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufc1
|
| Ensembl Gene |
ENSMUSG00000062963 |
| Gene Name |
ubiquitin-fold modifier conjugating enzyme 1 |
| Synonyms |
ESTM29, 1110021H02Rik |
| MMRRC Submission |
042962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.811)
|
| Stock # |
R5390 (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 171117746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 56
(L56R)
|
| 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: L56R
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: L56R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
164 |
1.3e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111302
AA Change: L56R
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: L56R
| 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 |
noncoding transcript
Transcript: ENSMUST00000138974
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144576
AA Change: L56R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
AA Change: L56R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
91 |
2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
| BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
| Clec4g |
C |
A |
8: 3,768,441 (GRCm39) |
V97L |
probably benign |
Het |
| Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
| Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
| Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
| Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
| H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,984,909 (GRCm39) |
L20Q |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
| Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
| Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
| Or1j1 |
C |
T |
2: 36,702,444 (GRCm39) |
R220H |
probably benign |
Het |
| Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
| Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
T |
15: 79,173,893 (GRCm39) |
S590T |
possibly damaging |
Het |
| Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,279 (GRCm39) |
T676A |
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
| Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
| Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
| Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- TGCTTAGGTCATCAAACTGCAAG -3'
(R):5'- ACTACCCTTGGCTCCAGTG -3'
Sequencing Primer
(F):5'- TGCAAGACTCCCATGTCAGGAATTAG -3'
(R):5'- CATGTCAAGGTTTCTCTGTGTAGCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation