Incidental Mutation 'R1527:Ufd1'
| ID |
166310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufd1
|
| Ensembl Gene |
ENSMUSG00000005262 |
| Gene Name |
ubiquitin recognition factor in ER-associated degradation 1 |
| Synonyms |
Ufd1l, Ufd1 |
| MMRRC Submission |
039567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18630529-18654011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18633661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 29
(S29P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000028]
[ENSMUST00000005394]
[ENSMUST00000096990]
[ENSMUST00000115578]
[ENSMUST00000115585]
[ENSMUST00000163695]
[ENSMUST00000172013]
[ENSMUST00000168822]
[ENSMUST00000171789]
|
| AlphaFold |
P70362 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000028
|
| SMART Domains |
Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
19 |
564 |
1.6e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005394
AA Change: S29P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: S29P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
18 |
194 |
2.1e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096990
|
| SMART Domains |
Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
18 |
74 |
7.9e-24 |
PFAM |
|
Pfam:CDC45
|
73 |
520 |
4.5e-138 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115578
AA Change: S29P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: S29P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
19 |
194 |
6.1e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115585
|
| SMART Domains |
Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
18 |
136 |
5.7e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163695
AA Change: S29P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262
AA Change: S29P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
18 |
70 |
3.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164795
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172013
AA Change: S29P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262
AA Change: S29P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YUJ|A
|
11 |
36 |
2e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171789
AA Change: S29P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232311
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable with no obvious heart defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
| Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
| Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
| Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,123 (GRCm39) |
S245P |
probably damaging |
Het |
| Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,463 (GRCm39) |
D1553G |
probably benign |
Het |
| Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
| Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
A |
T |
11: 74,744,674 (GRCm39) |
C848* |
probably null |
Het |
| Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
| Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
| Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
| Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ufd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Ufd1
|
APN |
16 |
18,646,468 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00944:Ufd1
|
APN |
16 |
18,643,781 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01104:Ufd1
|
APN |
16 |
18,633,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Ufd1
|
APN |
16 |
18,639,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03381:Ufd1
|
APN |
16 |
18,644,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Ufd1
|
UTSW |
16 |
18,642,035 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
BB011:Ufd1
|
UTSW |
16 |
18,642,035 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0611:Ufd1
|
UTSW |
16 |
18,633,626 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0730:Ufd1
|
UTSW |
16 |
18,633,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1755:Ufd1
|
UTSW |
16 |
18,642,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Ufd1
|
UTSW |
16 |
18,644,528 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4747:Ufd1
|
UTSW |
16 |
18,639,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5532:Ufd1
|
UTSW |
16 |
18,636,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Ufd1
|
UTSW |
16 |
18,645,850 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7303:Ufd1
|
UTSW |
16 |
18,636,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7348:Ufd1
|
UTSW |
16 |
18,634,635 (GRCm39) |
intron |
probably benign |
|
|
R7657:Ufd1
|
UTSW |
16 |
18,636,713 (GRCm39) |
missense |
probably benign |
|
|
R7913:Ufd1
|
UTSW |
16 |
18,633,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7924:Ufd1
|
UTSW |
16 |
18,642,035 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8389:Ufd1
|
UTSW |
16 |
18,639,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9369:Ufd1
|
UTSW |
16 |
18,634,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9508:Ufd1
|
UTSW |
16 |
18,643,802 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1177:Ufd1
|
UTSW |
16 |
18,642,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCGAGGTGGTCAAAAGAACATTC -3'
(R):5'- TCTGGTGCCCACATGCAAACTAAG -3'
Sequencing Primer
(F):5'- ACGCACTGATGACTTGCTATG -3'
(R):5'- CAAACTAAGGGCTATAGAAGGCTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation