Incidental Mutation 'R4642:Ufc1'
| ID |
351670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufc1
|
| Ensembl Gene |
ENSMUSG00000062963 |
| Gene Name |
ubiquitin-fold modifier conjugating enzyme 1 |
| Synonyms |
ESTM29, 1110021H02Rik |
| MMRRC Submission |
041904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.785)
|
| Stock # |
R4642 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171116137-171122575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171117467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 82
(I82T)
|
| 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: I82T
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: I82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
164 |
1.3e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111302
AA Change: I82T
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: I82T
| 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 benign
Transcript: ENSMUST00000144576
AA Change: I82T
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
AA Change: I82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
91 |
2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152621
|
| 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 |
|
| Meta Mutation Damage Score |
0.2712 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (46/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,415,982 (GRCm39) |
T387A |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
| Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,672,610 (GRCm39) |
R313H |
probably benign |
Het |
| Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
T |
1: 59,597,273 (GRCm39) |
E434D |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
| Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
| Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
A |
T |
3: 22,242,584 (GRCm39) |
N38I |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
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 |
|
|
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 |
|
|
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'- CACCAGGATTCTAGGCACAGAG -3'
(R):5'- TGGCTTGAGCAATCTGGTATC -3'
Sequencing Primer
(F):5'- TTCTAGGCACAGAGATTAGCAACTC -3'
(R):5'- GCTTGAGCAATCTGGTATCTCATAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation