Incidental Mutation 'IGL01971:Utp23'
| ID |
182552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Utp23
|
| Ensembl Gene |
ENSMUSG00000022313 |
| Gene Name |
UTP23 small subunit processome component |
| Synonyms |
1700010I21Rik, D530033C11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL01971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
51740837-51748018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 51745671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 57
(A57E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059599]
[ENSMUST00000136129]
[ENSMUST00000137116]
[ENSMUST00000161651]
|
| AlphaFold |
Q9CX11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059599
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136129
AA Change: A57E
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124832
Gene: ENSMUSG00000022313
AA Change: A57E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fcf1
|
1 |
44 |
4.7e-12 |
PFAM |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137116
AA Change: A163E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119261
Gene: ENSMUSG00000022313
AA Change: A163E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fcf1
|
51 |
149 |
2.5e-32 |
PFAM |
|
low complexity region
|
191 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000161651
|
| SMART Domains |
Protein: ENSMUSP00000124157
Gene: ENSMUSG00000022313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227812
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
| Ankmy2 |
A |
T |
12: 36,243,792 (GRCm39) |
K336* |
probably null |
Het |
| Areg |
A |
G |
5: 91,288,870 (GRCm39) |
T59A |
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,064 (GRCm39) |
I409N |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
G |
A |
8: 125,070,081 (GRCm39) |
V499M |
probably benign |
Het |
| Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,967,999 (GRCm39) |
V636A |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
| Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
probably benign |
Het |
|
| Other mutations in Utp23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02159:Utp23
|
APN |
15 |
51,745,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Utp23
|
UTSW |
15 |
51,745,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0703:Utp23
|
UTSW |
15 |
51,745,752 (GRCm39) |
small deletion |
probably benign |
|
|
R0714:Utp23
|
UTSW |
15 |
51,745,665 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5000:Utp23
|
UTSW |
15 |
51,745,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Utp23
|
UTSW |
15 |
51,741,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Utp23
|
UTSW |
15 |
51,745,598 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8497:Utp23
|
UTSW |
15 |
51,745,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation