Incidental Mutation 'R0712:Ubald2'
| ID |
62792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubald2
|
| Ensembl Gene |
ENSMUSG00000050628 |
| Gene Name |
UBA-like domain containing 2 |
| Synonyms |
1110014K08Rik, D030012E24Rik, Fam100b |
| MMRRC Submission |
038895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R0712 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116324920-116329903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116325401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 46
(F46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057676]
|
| AlphaFold |
Q8BQH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057676
AA Change: F46S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058894
Gene: ENSMUSG00000050628
AA Change: F46S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
11 |
53 |
1.8e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144310
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd1 |
G |
A |
X: 72,774,471 (GRCm39) |
V489M |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,291,594 (GRCm39) |
V78E |
probably benign |
Het |
| Atp2b4 |
T |
C |
1: 133,658,216 (GRCm39) |
K565E |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,768,837 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
A |
G |
2: 165,012,576 (GRCm39) |
Y170H |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,647 (GRCm39) |
K45I |
probably damaging |
Het |
| Dnaaf4 |
G |
T |
9: 72,867,939 (GRCm39) |
G67* |
probably null |
Het |
| Hdac8 |
T |
A |
X: 101,543,524 (GRCm39) |
M67L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,086,037 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,205,297 (GRCm39) |
Y380* |
probably null |
Het |
| Mastl |
A |
G |
2: 23,041,005 (GRCm39) |
Y106H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,940,271 (GRCm39) |
E5210G |
possibly damaging |
Het |
| Or12d2 |
T |
A |
17: 37,624,975 (GRCm39) |
H100L |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,726 (GRCm39) |
V20A |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,581,830 (GRCm39) |
Y21C |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,257 (GRCm39) |
E130G |
probably benign |
Het |
| Rnmt |
G |
A |
18: 68,440,859 (GRCm39) |
|
probably null |
Het |
| Stk11ip |
T |
A |
1: 75,504,091 (GRCm39) |
L277Q |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,907 (GRCm39) |
S238P |
probably damaging |
Het |
| Tex264 |
A |
C |
9: 106,536,431 (GRCm39) |
L242R |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,140 (GRCm39) |
V463A |
probably benign |
Het |
|
| Other mutations in Ubald2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
ubiquity
|
UTSW |
11 |
116,325,443 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1652:Ubald2
|
UTSW |
11 |
116,325,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Ubald2
|
UTSW |
11 |
116,325,211 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6477:Ubald2
|
UTSW |
11 |
116,325,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7063:Ubald2
|
UTSW |
11 |
116,325,443 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTCGGTGAACACGGACGAG -3'
(R):5'- ATCGCAACATCCTGCTGGAAGC -3'
Sequencing Primer
(F):5'- CATGATCAACCAGTTCGTGC -3'
(R):5'- GCGCTCTTTCCTGGAAGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation