Incidental Mutation 'R6710:Utp3'
ID |
529090 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp3
|
Ensembl Gene |
ENSMUSG00000070697 |
Gene Name |
UTP3 small subunit processome component |
Synonyms |
Crlz1, 2400011K09Rik |
MMRRC Submission |
044828-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R6710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
88702321-88703949 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88703823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 451
(Y451H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090413]
|
AlphaFold |
Q9JI13 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090413
AA Change: Y451H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087896 Gene: ENSMUSG00000070697 AA Change: Y451H
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
low complexity region
|
66 |
80 |
N/A |
INTRINSIC |
low complexity region
|
86 |
114 |
N/A |
INTRINSIC |
coiled coil region
|
141 |
176 |
N/A |
INTRINSIC |
Pfam:Sas10_Utp3
|
226 |
306 |
5.1e-21 |
PFAM |
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
Pfam:Sas10
|
395 |
468 |
1e-31 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
probably damaging |
Het |
|
Other mutations in Utp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01512:Utp3
|
APN |
5 |
88,703,803 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02818:Utp3
|
APN |
5 |
88,703,267 (GRCm39) |
nonsense |
probably null |
|
IGL03115:Utp3
|
APN |
5 |
88,703,179 (GRCm39) |
missense |
possibly damaging |
0.65 |
PIT4515001:Utp3
|
UTSW |
5 |
88,702,564 (GRCm39) |
missense |
probably benign |
0.01 |
R4535:Utp3
|
UTSW |
5 |
88,703,458 (GRCm39) |
missense |
probably benign |
|
R7143:Utp3
|
UTSW |
5 |
88,702,376 (GRCm39) |
start gained |
probably benign |
|
R7188:Utp3
|
UTSW |
5 |
88,702,621 (GRCm39) |
missense |
probably benign |
0.08 |
R7295:Utp3
|
UTSW |
5 |
88,702,376 (GRCm39) |
start gained |
probably benign |
|
R7297:Utp3
|
UTSW |
5 |
88,702,376 (GRCm39) |
start gained |
probably benign |
|
R7459:Utp3
|
UTSW |
5 |
88,703,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Utp3
|
UTSW |
5 |
88,702,755 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGGCTGCTCTCAAGTACT -3'
(R):5'- AACCCCTAATTCCCTGCTGA -3'
Sequencing Primer
(F):5'- GGCTGCTCTCAAGTACTATAAGG -3'
(R):5'- TCCCTGCTGACAACAAATTTTAAAC -3'
|
Posted On |
2018-07-24 |