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 |