Incidental Mutation 'IGL03236:Utp6'
| ID |
414071 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Utp6
|
| Ensembl Gene |
ENSMUSG00000035575 |
| Gene Name |
UTP6 small subunit processome component |
| Synonyms |
HCA66, 4732497O03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL03236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 79851567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043152]
[ENSMUST00000108241]
|
| AlphaFold |
Q8VCY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043152
|
| SMART Domains |
Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
25 |
63 |
5e-11 |
BLAST |
|
HAT
|
87 |
119 |
6.33e2 |
SMART |
|
HAT
|
121 |
153 |
5.54e-1 |
SMART |
|
HAT
|
156 |
188 |
2.41e-1 |
SMART |
|
HAT
|
305 |
336 |
4.13e0 |
SMART |
|
Blast:HAT
|
350 |
382 |
1e-11 |
BLAST |
|
Blast:HAT
|
418 |
451 |
2e-9 |
BLAST |
|
Blast:HAT
|
454 |
487 |
3e-12 |
BLAST |
|
HAT
|
489 |
521 |
8.05e0 |
SMART |
|
HAT
|
525 |
558 |
9.13e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108241
|
| SMART Domains |
Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
25 |
63 |
5e-11 |
BLAST |
|
HAT
|
87 |
119 |
6.33e2 |
SMART |
|
HAT
|
121 |
153 |
5.54e-1 |
SMART |
|
HAT
|
156 |
188 |
2.41e-1 |
SMART |
|
HAT
|
305 |
336 |
4.13e0 |
SMART |
|
Blast:HAT
|
350 |
382 |
1e-11 |
BLAST |
|
Blast:HAT
|
418 |
451 |
2e-9 |
BLAST |
|
Blast:HAT
|
454 |
487 |
3e-12 |
BLAST |
|
HAT
|
489 |
521 |
8.05e0 |
SMART |
|
HAT
|
525 |
558 |
9.13e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146127
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
| Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
| Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
| Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
| Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
| Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
| Other mutations in Utp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Utp6
|
APN |
11 |
79,846,531 (GRCm39) |
nonsense |
probably null |
|
|
IGL02889:Utp6
|
APN |
11 |
79,839,896 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03028:Utp6
|
APN |
11 |
79,844,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03040:Utp6
|
APN |
11 |
79,826,939 (GRCm39) |
splice site |
probably benign |
|
|
IGL03084:Utp6
|
APN |
11 |
79,853,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4382001:Utp6
|
UTSW |
11 |
79,853,099 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0082:Utp6
|
UTSW |
11 |
79,844,457 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0140:Utp6
|
UTSW |
11 |
79,847,551 (GRCm39) |
splice site |
probably benign |
|
|
R0962:Utp6
|
UTSW |
11 |
79,832,694 (GRCm39) |
splice site |
probably benign |
|
|
R1485:Utp6
|
UTSW |
11 |
79,839,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2376:Utp6
|
UTSW |
11 |
79,846,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2380:Utp6
|
UTSW |
11 |
79,826,831 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4065:Utp6
|
UTSW |
11 |
79,837,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Utp6
|
UTSW |
11 |
79,839,836 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5774:Utp6
|
UTSW |
11 |
79,844,424 (GRCm39) |
missense |
probably benign |
|
|
R6842:Utp6
|
UTSW |
11 |
79,831,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7507:Utp6
|
UTSW |
11 |
79,833,012 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7793:Utp6
|
UTSW |
11 |
79,828,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8349:Utp6
|
UTSW |
11 |
79,836,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8449:Utp6
|
UTSW |
11 |
79,836,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8856:Utp6
|
UTSW |
11 |
79,842,455 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8930:Utp6
|
UTSW |
11 |
79,834,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8932:Utp6
|
UTSW |
11 |
79,834,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9282:Utp6
|
UTSW |
11 |
79,826,851 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Utp6
|
UTSW |
11 |
79,826,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Utp6
|
UTSW |
11 |
79,832,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation